Laureate Professor Rodney Scott

Laureate Professor Rodney Scott

Laureate Professor

School of Biomedical Sciences and Pharmacy (Medical Genetics)

Mining your genes

Geneticist Professor Rodney Scott and computer scientist Professor Pablo Moscato come from disparate academic backgrounds, but they share a common purpose. The leading researchers are blending their respective knowledge with the aim of making personalised medicine a reality.

Scott and Moscato are co-directors of the University of Newcastle's forward-thinking Centre for Bioinformatics, Biomarker Discovery and Information-Based Medicine. As one of only two research sites  in Australia that directly link bioinformatics with clinical research practice, it is at the forefront of the emerging field of developing patient-tailored treatments based on genetic analysis.

Both researchers bring considerable expertise to the collaboration. Scott has been working in the field of hereditary diseases for 20 years, and has attracted global recognition for his genetic research, particularly in the areas of breast and bowel cancers.

Moscato began his influential work in computer science in the late 1980s as a member of the Caltech parallel computing group – supercomputing pioneers based at the California Institute of Technology. While there, he developed in collaboration with another researcher a computer optimisation strategy known as a memetic algorithm, now widely used in computation-based applications in many areas of Science and Technology.

What has drawn them together is the need for more efficient ways of processing and appropriately interpret the mass of genetic research data being collected by medical researchers. Working alongside this is the tantalising prospect of being able to use computer profiling technology to customise treatments for individual patients.

"Since I have been working in genetics there has been an explosion of knowledge and huge advances in the technology that can be used to identify risk factors associated with disease," Scott says.

"Technology allows us to acquire a huge amount of data but a bottleneck is created by the analysis, because there is physically so much data to sift through.

"Bioinformatics is providing a mechanism whereby we can reduce the complexity of research data, manage it and interpret it."

Scott and Moscato first collaborated in 2006 when Moscato applied his statistical and computational skills to analysing data associated with the rare genetic disorder xeroderma pigmentosum, a trigger for childhood skin cancer. Scott was impressed with the results and the University, recognising the potential for this valuable interdisciplinary research, approved the investigators' request to set up the centre.

University medical and bioinformatics researchers have since successfully worked together on the interpretation of genetic data relating not only to cancer but a range of conditions including stroke, multiple sclerosis, macular degeneration, Alzheimer's Disease and lung disease.

"When I came to the University in 2002 there was a lot of strength on the clinical side of medical research but not a lot of work underway in bioinformatics," Moscato says.

"I established the Newcastle Bioinformatics Initiative with the support of the university in 2002. On my lead, and with ARC support, Newcastle has been the only NSW node of the ARC Centre of Excellence in Bioinformatics since 2003.

"Now, in some areas, particularly in supercomputing based approaches to interrogate these datasets, we are clearly leading this research field in Australia."

Moscato is pushing the boundaries of molecular interrogation techniques, looking for ways to provide more sophisticated information, including a forensic analysis of data that seeks to explain, rather than dismiss, even minor statistical anomalies. He has developed a method based on Information Theory to track the progession of cancer and Alzheimer's Disease in the brain.

"It is a unifying theory, the Entropic Hallmark," he says.

"A medical researcher can come to us with data that contains a number of variables and our methods are able to highlight the possibilities," he says. "We seek to open new working hypotheses, rather than just give a straightforward reading of the data."

For example, detailed analysis of data over a number of years by his team has led to the identification of what they believe to be the 'genetic signature' of two new subtypes of breast cancer.  If validated, the research could lead to new approaches to treatment.

The "final quest", Moscato says, is personalising medicine.

"With cancer, for instance, we are moving away from the approach that there is a silver bullet cure," he says.

"There are thousands of drugs that can be used to treat cancers. That presents a huge number of possible combinations for treatment. Only with sophisticated computer analysis can you screen all of the combinations according to a patient's specific gene characteristics."

Scott picks up the theme: "What we are aiming to achieve is user-friendly programs that can be applied at the clinical level; programs that will efficiently and effectively analyse the data and deliver meaningful information describing a person's risk factors and suggesting optimal treatment."

Professor Rodney Scott and Professor Pablo Moscato research in collaboration with the Hunter Medical Research Institute's (HMRI) Information Based Medicine Program. HMRI is a partnership between the University, Hunter New England Local Health District and the community.

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Rodney Scott

Mining your genes

A successful collaboration between Professor Rodney Scott and Pablo Moscato is using medical science and computer analysis to unlock the mysteries of cancer and other diseases.

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Career Summary

Biography

Inherited forms of cancer have been my main interest for around 20 years. The research I have been involved first focused on the identification of genes associated with with inherited forms of colorectal cancer and breast cancer.

The research area proved to be extremely successful as it really set the scene for our current understanding of the genetic basis of malignancy. Since the identification of genetic susceptibilities my research interests have focused on better defining these inherited entities such that more appropriate intervention strategies can be developed. Initially, much emphasis was placed on recognising genotype/phenotype correlations with disease and as such the research I have undertaken has done much to define such relationships.

More recently, the role of modifier genes in disease penetrance has been a major thematic area and data forthcoming from these studies indicates that there are additional disease susceptibilities that are important in assessing individual risk on a genetic background of high risk. This research is now beginning to be translated to the general population as it represents the first tentative move towards determining cancer risk in the general population. With increasing emphasis on disease prevention it is to be expected that this research will continue to flourish.

My research career took off in Switzerland where I consolidated a centre dedicated to the study of inherited predispositions to cancer. During this period of my research career I was heavily involved in the identification of genetic predispositions to breast cancer and bowel cancer and through my activities supervised 4 PhD students who have since had excellent careers in medical research. The research that I am focused on is consistent with two of Australia's national priorities, healthy aging and a healthy start to life.

Research Expertise
Expertise in the genetic basis of disease especially in relation to the development of malignancy.

Teaching Expertise
Expertise in the teaching of medical genetics.

Administrative Expertise
I have been on numerous State and National committees that are involved in ensuring the delivery of genetic services to the public. I have also served on ethics committees and a variety of other administrative committees.

Collaborations
The genetics of bowel cancer, Genetic variation and its relationship to disease, The genetics of breast cancer.


Qualifications

  • Privat Dozent - German equivalent to DSc, University of Basel
  • Bachelor of Science (Honours), University of Western Australia
  • PhD, University of Western Australia

Keywords

  • Cancer Genetics
  • Colorectal cancer
  • DNA Repair
  • DNA repair
  • Developmental
  • Gene environment interaction
  • Genetics
  • Medical
  • Molecular
  • breast cancer
  • evolution
  • family studies
  • genetic epidemiology
  • homeostasis
  • human
  • modifier genes

Languages

  • German (Fluent)

Fields of Research

Code Description Percentage
110399 Clinical Sciences not elsewhere classified 20
111299 Oncology and Carcinogenesis not elsewhere classified 40
060499 Genetics not elsewhere classified 40

Professional Experience

Academic appointment

Dates Title Organisation / Department
1/06/2005 -  Scientific Advisor Cancer Institute NSW
1/06/2005 -  Member gene technology technical advisory committee Gene Technology Regulator, Federal Government
Australia
1/01/2003 -  Chair of the Board of Censors for Molecular Genetics Human Genetics Society of Australasia (HGSA)
Australia
1/01/2002 -  Founding Member International Hereditary Cancer Center
Poland
1/01/2002 - 1/12/2003 Member of the Working Group on Human Gene Patents Australian Health Ministers' Advisory Council (AHMAC)
Australia
1/04/2000 -  Visiting Professor of Cancer Genetics Pomeranian Academy of Medicine
Department of Pathology and Genetics
Poland
1/01/1990 - 1/07/1997 Research Group Leader University Clinics Basel
Department of Research and Teaching
Switzerland

Membership

Dates Title Organisation / Department
Member - Royal College of Pathologists of Australasia Royal College of Pathologists of Australasia
Member of the Management Committee Ramaciotti Centre for Gene Function Analysis
Australia
Secretary - NSWOG (Familial Cancer) Cancer Institute of NSW NSWOG (Familial Cancer) Cancer Institute of NSW
Australia
Member of the DNA Working Party NSW Department of Health
Editor-in-Chief Hereditary Cancer in Clinical Practice
Australia
Member - International Network for Cancer Treatment and Research (INCTR) International Network for Cancer Treatment and Research (INCTR)
Australia
Member of the Genetic Services Advisory Committee NSW Department of Health
Examiner - Royal College of Pathologists of Australasia Royal College of Pathologists of Australasia

Professional appointment

Dates Title Organisation / Department
1/08/1997 -  Director of Genetics Hunter Area Pathology Service
Health
Australia

Awards

Recipient

Year Award
2002 Commentary on newly identified genes in breast cancer
The Lancet (Journal)

Research Award

Year Award
2009 Researcher of the Year
Hunter Medical Research Institute (HMRI)
2004 Research Excellence in Cancer Research
Cancer Council NSW
1994 Susanne Huggenberger-Bishoff Stiftung Prize for Cancer Genetics
Huggenberger-Bischoff Stiftung zur Krebsforschung (Huggenberger-Bischoff Foundation for Cancer Research)

Invitations

External Examiner

Year Title / Rationale
2006 Polymorphism analysis in breast cancer
Organisation: Georgian National Science Foundation
2006 Histology of tumours derived from early onset cancer cases
Organisation: Georgian National Science Foundation

External Reviewer - Programs

Year Title / Rationale
2000 Genetic studies on colorectal cancer
Organisation: Canadian Medical Research Council

Participant

Year Title / Rationale
2007 The role of DNA repair genes in cancer
Organisation: Regional Conference on Molecular Medicine From Molecular Mechanisms to Clinical Practice
2007 Molecular epidemiology of colorectal cancer
Organisation: Regional Conference on Molecular Medicine From Molecular Mechanisms to Clinical Practice
2007 The Genetic basis of early familial colorectal cancer
Organisation: Australasian Association of Clinical Biochemists
2006 Future considerations for genetic testing
Organisation: IMPACT and AIDIT meeting
2004 Translation of medical research into clinical practice or From Bench to Bedside
Organisation: The Hunter Medical Research Institute Inaugural Cancer Conference
2003 Molecular Genetics: What is it being used for and where is it taking us
Organisation: . Australian Institute of Medical Science
2002 European inaugural conference on tissue banking 'Cogene'.
Organisation: European Union
2001 Attenuated Familial Adenomatous Polyposis.
Organisation: UICC Familial Cancer Project and International Oncology Conference, Beijing
1996 BRCA1 mutations and early onset breast cancer
Organisation: 3rd European Cancer Center (EUCC) Symposium. Kaiser Augst
1995 Identification of persons eligible for gene therapy: Limitations and expectations
Organisation: 5th. Basler Radio-Oncology Conference, Basel
1993 Hereditary conditions in which a loss of heterozygosity may be important
Organisation: 23rd. Annual Meeting of the European Environmental Mutagen Society, Barcelona. September 1993.
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Publications

For publications that are currently unpublished or in-press, details are shown in italics.


Chapter (7 outputs)

Year Citation Altmetrics Link
2015 Riveros C, Vimieiro R, Holliday EG, Oldmeadow C, Wang JJ, Mitchell P, et al., 'Identification of genome-wide SNP-SNP and SNP-clinical Boolean interactions in Age-related Macular Degeneration', Epistasis: Methods and Protocols, Springer, New York 217-255 (2015) [B1]
DOI 10.1007/978-1-4939-2155-3_12
Citations Scopus - 2
Co-authors Pablo Moscato, John Attia, Liz Holliday, Carlos Riveros, Christopher Oldmeadow
2015 Jaworska-Bieniek K, Lener M, Muszynska M, Serrano-Fernández P, Sukiennicki G, Durda K, et al., 'Selenium and Cancer', Selenium : Chemistry, Analysis, Function and Effects, Royal Society of Chemistry, London 377-390 (2015) [B1]
DOI 10.1039/9781782622215-00377
2014 Attia JR, Holliday EG, Ioannidis JPA, Thakkinstian A, McEvoy M, Scott RJ, et al., 'How to use an article about genetic association', Users' Guides to the Medical Literature: Essentials of Evidence-Based Clinical Practice 3e, McGraw Hill Professional, USA (2014)
Co-authors John Attia, Liz Holliday
2012 Scott RJ, Reeves S, Talseth-Palmer B, 'The Role of Modifier Genes in Lynch Syndrome', Colorectal Cancer Biology, InTech, Croatia 37-58 (2012)
2012 Scott R, Reeves SG, Talseth-Palmer B, 'The role of modifier genes in Lynch Syndrome', Colorectal Cancer Biology From Genes To Tumor, InTech, Slovenia 37-58 (2012) [B1]
DOI 10.5772/1163
Co-authors Bente Talseth-Palmer
2009 Scott R, Lubinski J, 'Genetic epidemiology studies in hereditary non-polyposis colorectal cancer', Cancer Epidemiology, Humana Press, New York 89-102 (2009) [B1]
DOI 10.1007/978-1-60327-492-0_4
Citations Scopus - 4
2008 Mendes ADS, Scott R, Moscato PA, 'Microarrays - Identifying molecular portraits in prostrate tumors with different gleason patterns', Clinical Bioinformatics, Humana Press, New York 131-151 (2008) [B1]
DOI 10.1007/978-1-60327-148-6
Citations Scopus - 17
Co-authors Alexandre Mendes, Pablo Moscato
Show 4 more chapters

Journal article (515 outputs)

Year Citation Altmetrics Link
2017 de Vries PS, Sabater-Lleal M, Chasman DI, Trompet S, Ahluwalia TS, Teumer A, et al., 'Comparison of HapMap and 1000 Genomes Reference Panels in a Large-Scale Genome-Wide Association Study.', PLoS One, 12 e0167742 (2017)
DOI 10.1371/journal.pone.0167742
Co-authors John Attia, Christopher Oldmeadow, Mark Mcevoy, Liz Holliday
2017 Warren HR, Evangelou E, Cabrera CP, Gao H, Ren M, Mifsud B, et al., 'Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk', NATURE GENETICS, 49 403-415 (2017)
DOI 10.1038/ng.3768
Citations Web of Science - 5
Co-authors Liz Holliday, Christopher Oldmeadow
2017 Hansen MF, Johansen J, Sylvander AE, Bjørnevoll I, Talseth-Palmer BA, Lavik LAS, et al., 'Use of multigene-panel identifies pathogenic variants in several CRC-predisposing genes in patients previously tested for Lynch Syndrome.', Clin Genet, (2017)
DOI 10.1111/cge.12994
Citations Scopus - 1
Co-authors Bente Talseth-Palmer
2017 Pan X, Bowman M, Scott RJ, Fitter J, Smith R, Zakar T, 'Promoter methylation pattern controls corticotropin releasing hormone gene activity in human trophoblasts', PLoS ONE, 12 (2017)

© 2017 Pan et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reprod... [more]

© 2017 Pan et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Placental CRH production increases with advancing pregnancy in women and its course predicts gestational length. We hypothesized that CRH gene expression in the placenta is epigenetically controlled setting gestational trajectories characteristic of normal and pathological pregnancies. Here we determined histone modification and DNA methylation levels and DNA methylation patterns at the CRH promoter in primary trophoblast cultures by chromatin immunoprecipitation combined with clonal bisulfite sequencing and identified the transcriptionally active epialleles that associate with particular histone modifications and transcription factors during syncytialisation and cAMP-stimulation. CRH gene expression increased during syncytial differentiation and cAMP stimulation, which was associated with increased activating and decreased repressive histone modification levels at the prom oter. DNA methylation levels remained unchanged. The nine CpGs of the CRH proximal promoter were partially and allele-independently methylated displaying many ( > 100) epialleles. RNA-polymerase-II (Pol-II) bound only to three particular epialleles in cAMP-stimulated cells, while phospho-cAMP response element-binding protein (pCREB) bound to only one epiallele, which was different from those selected by Pol-II. Binding of TATA-binding protein increased during syncytial differentiation preferentially at epialleles compatible with Pol-II and pCREB binding. Histone-3 acetylation was detected only at epialleles targeted by Pol-II and pCREB, while gene activating histone-4 acetylation and histone-3-lysine-4 trimethylation occurred at CRH epialleles not associated with Pol-II or pCREB. The suppressive histone-3-lysine-27 trimethyl and±lysine-9 trimethyl modifications showed little or no epiallele preference. The epiallele selectivity of activating histone modifications and transcription factor binding demonstrates the epigenetic and functional diversity of the CRH gene in trophoblasts, which is controlled predominantly by the patterns, not the overall extent, of promoter methylation. We propose that conditions impacting on epiallele distribution influence the number of transcriptionally active CRH gene copies in the trophoblast cell population determining the gestational trajectory of placental CRH production in normal and pathological pregnancies.

DOI 10.1371/journal.pone.0170671
Co-authors Roger Smith, John Fitter, Maria Bowman
2017 Gromowski T, Gapska P, Scott RJ, Kaklewski K, Marciniak W, Durda K, et al., 'Serum 25(OH)D concentration, common variants of the VDR gene and lung cancer occurrence.', Int J Cancer, 141 336-341 (2017)
DOI 10.1002/ijc.30740
2017 Burnard S, Lechner-Scott J, Scott RJ, 'EBV and MS: Major cause, minor contribution or red-herring?', Multiple Sclerosis and Related Disorders, 16 24-30 (2017)
DOI 10.1016/j.msard.2017.06.002
Co-authors Jeannette Lechner-Scott
2017 Schmiegel W, Scott RJ, Dooley S, Lewis W, Meldrum CJ, Pockney P, et al., 'Blood-based detection of RAS mutations to guide anti-EGFR therapy in colorectal cancer patients: concordance of results from circulating tumor DNA and tissue-based RAS testing.', Mol Oncol, 11 208-219 (2017)
DOI 10.1002/1878-0261.12023
Co-authors Peter Pockney
2017 Delforce SJ, Lumbers ER, Corbisier de Meaultsart C, Wang Y, Proietto A, Otton G, et al., 'Expression of renin-angiotensin system (RAS) components in endometrial cancer.', Endocr Connect, 6 9-19 (2017)
DOI 10.1530/EC-16-0082
Co-authors Nikki Verrills, Kirsty Pringle
2017 Najdawi F, Crook A, Maidens J, McEvoy C, Fellowes A, Pickett J, et al., 'Lessons learnt from implementation of a Lynch syndrome screening program for patients with gynaecological malignancy', Pathology, (2017)
DOI 10.1016/j.pathol.2017.05.004
2017 Atkinson RJ, Fulham WR, Michie PT, Ward PB, Todd J, Stain H, et al., 'Electrophysiological, cognitive and clinical profiles of at-risk mental state: The longitudinal minds in transition (MinT) study', PLoS ONE, 12 (2017)

© 2017 Atkinson et al.This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and re... [more]

© 2017 Atkinson et al.This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. The onset of schizophrenia is typically preceded by a prodromal period lasting several years during which sub-threshold symptoms may be identified retrospectively. Clinical interviews are currently used to identify individuals who have an ultra-high risk (UHR) of developing a psychotic illness with a view to provision of interventions that prevent, delay or reduce severity of future mental health issues. The utility of bio-markers as an adjunct in the identification of UHR individuals is not yet established. Several event-related potential measures, especially mismatch-negativity (MMN), have been identified as potential biomarkers for schizophrenia. In this 12-month longitudinal study, demographic, clinical and neuropsychological data were acquired from 102 anti-psychotic naive UHR and 61 healthy controls, of whom 80 UHR and 58 controls provided valid EEG data during a passive auditory task at baseline. Despite widespread differences between UHR and controls on demographic, clinical and neuropsychological measures, MMN and P3a did not differ between these groups. Of 67 UHR at the 12-month follow-up, 7 (10%) had transitioned to a psychotic illness. The statistical power to detect differences between those who did or did not transition was limited by the lower than expected transition rate. ERPs did not predict transition, with trends in the opposite direction to that predicted. In exploratory analysis, the strongest predictors of transition were measures of verbal memory and subjective emotional disturbance.

DOI 10.1371/journal.pone.0171657
Co-authors Pat Michie, Carmel Loughland, Helen Stain, Renate Thienel, Ulrich Schall, Juanita Todd
2017 Dymerska D, Golebiewska K, Kuswik M, Rudnicka H, Scott RJ, Billings R, et al., 'New EPCAM founder deletion in Polish population.', Clin Genet, (2017)
DOI 10.1111/cge.13026
2017 McLaughlin RL, Schijven D, Van Rheenen W, Van Eijk KR, O'Brien M, Kahn RS, et al., 'Genetic correlation between amyotrophic lateral sclerosis and schizophrenia', Nature Communications, 8 (2017)

© 2017 The Author(s). We have previously shown higher-than-expected rates of schizophrenia in relatives of patients with amyotrophic lateral sclerosis (ALS), suggesting an aetiol... [more]

© 2017 The Author(s). We have previously shown higher-than-expected rates of schizophrenia in relatives of patients with amyotrophic lateral sclerosis (ALS), suggesting an aetiological relationship between the diseases. Here, we investigate the genetic relationship between ALS and schizophrenia using genome-wide association study data from over 100,000 unique individuals. Using linkage disequilibrium score regression, we estimate the genetic correlation between ALS and schizophrenia to be 14.3% (7.05-21.6; P=1 × 10 -4 ) with schizophrenia polygenic risk scores explaining up to 0.12% of the variance in ALS (P=8.4 × 10 -7 ). A modest increase in comorbidity of ALS and schizophrenia is expected given these findings (odds ratio 1.08-1.26) but this would require very large studies to observe epidemiologically. We identify five potential novel ALS-associated loci using conditional false discovery rate analysis. It is likely that shared neurobiological mechanisms between these two disorders will engender novel hypotheses in future preclinical and clinical studies.

DOI 10.1038/ncomms14774
Co-authors Carmel Loughland, Ulrich Schall, Frans Henskens, Pat Michie
2017 Daneshi N, Holliday E, Hancock S, Schneider JJ, Scott RJ, Attia J, Milward EA, 'Prevalence of clinically actionable genotypes and medication exposure of older adults in the community', PHARMACOGENOMICS & PERSONALIZED MEDICINE, 10 17-27 (2017)
DOI 10.2147/PGPM.S123719
Co-authors Liz Milward, Jennifer Schneider, Liz Holliday, John Attia
2017 Abdullah N, Abdul Murad NA, Mohd Haniff EA, Syafruddin SE, Attia J, Oldmeadow C, et al., 'Predicting type 2 diabetes using genetic and environmental risk factors in a multi-ethnic Malaysian cohort.', Public Health, 149 31-38 (2017)
DOI 10.1016/j.puhe.2017.04.003
Co-authors Christopher Oldmeadow, Liz Holliday, John Attia
2017 Maltby VE, Lea RA, Sanders KA, White N, Benton MC, Scott RJ, Lechner-Scott J, 'Differential methylation at MHC in CD4(+) T cells is associated with multiple sclerosis independently of HLA-DRB1.', Clin Epigenetics, 9 71 (2017)
DOI 10.1186/s13148-017-0371-1
Co-authors Vicki E Maltby
2017 Smith-Anttila CJA, Bensing S, Alimohammadi M, Dalin F, Oscarson M, Zhang M-D, et al., 'Identification of endothelin-converting enzyme-2 as an autoantigen in autoimmune polyendocrine syndrome type 1.', Autoimmunity, 1-9 (2017)
DOI 10.1080/08916934.2017.1332183
2016 Kamien B, Dadd T, Buckman M, Ronan A, Dudding T, Meldrum C, et al., 'Somatic-Gonadal Mosaicism Causing Sotos Syndrome', AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 170 3360-3362 (2016)
DOI 10.1002/ajmg.a.37867
Co-authors T Dudding
2016 Chen MM, O'Mara TA, Thompson DJ, Painter JN, Attia J, Black A, et al., 'GWAS meta-analysis of 16 852 women identifies new susceptibility locus for endometrial cancer', HUMAN MOLECULAR GENETICS, 25 2612-2620 (2016) [C1]
DOI 10.1093/hmg/ddw092
Co-authors Liz Holliday, Mark Mcevoy, John Attia
2016 Painter JN, O'Mara TA, Marquart L, Webb PM, Attia J, Medland SE, et al., 'Genetic risk score mendelian randomization shows that obesity measured as body mass index, but not waist:hip ratio, is causal for endometrial cancer', Cancer Epidemiology Biomarkers and Prevention, 25 1503-1510 (2016) [C1]

Background: The strongest known risk factor for endometrial cancer is obesity. To determine whether SNPs associated with increased body mass index (BMI) or waist-hip ratio (WHR) a... [more]

Background: The strongest known risk factor for endometrial cancer is obesity. To determine whether SNPs associated with increased body mass index (BMI) or waist-hip ratio (WHR) are associated with endometrial cancer risk, independent of measured BMI, we investigated relationships between 77 BMI and 47 WHR SNPs and endometrial cancer in 6,609 cases and 37,926 country-matched controls. Methods: Logistic regression analysis and fixed effects metaanalysis were used to test for associations between endometrial cancer risk and (i) individual BMI orWHRSNPs, (ii) a combined weighted genetic risk score (wGRS) for BMI or WHR. Causality of BMI for endometrial cancer was assessed using Mendelian randomization, with BMIwGRS as instrumental variable. Results: The BMIwGRS was significantly associated with endometrial cancer risk (P -= 3.4 × 10-17). Scaling the effect of the BMIwGRS on endometrial cancer risk by its effect on BMI, the endometrial cancer OR per 5 kg/m2 of genetically predicted BMI was 2.06 [95% confidence interval (CI), 1.89-2.21] , larger than the observed effect of BMI on endometrial cancer risk (OR-=1.55; 95% CI, 1.44-1.68, per 5 kg/m2). The association attenuated but remained significant after adjusting for BMI (OR -= 1.22; 95% CI, 1.10-1.39; P -= 5.3 × 10-4). There was evidence of directional pleiotropy (P -= 1.5 × 10-4). BMI SNP rs2075650 was associated with endometrial cancer at study-wide significance (P < 4.0 × 10-4), independent of BMI. Endometrial cancer was not significantly associated with individual WHR SNPs or the WHRwGRS. Conclusions: BMI, but not WHR, is causally associated with endometrial cancer risk, with evidence that some BMI-associated SNPs alter endometrial cancer risk via mechanisms other than measurable BMI. Impact: The causal association between BMI SNPs and endometrial cancer has possible implications for endometrial cancer risk modeling.

DOI 10.1158/1055-9965.EPI-16-0147
Citations Web of Science - 1
Co-authors Mark Mcevoy, John Attia, Liz Holliday
2016 Okbay A, Baselmans BML, De Neve JE, Turley P, Nivard MG, Fontana MA, et al., 'Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses', Nature Genetics, 48 624-633 (2016) [C1]

© 2016 Nature America, Inc. Very few genetic variants have been associated with depression and neuroticism, likely because of limitations on sample size in previous studies. Subj... [more]

© 2016 Nature America, Inc. Very few genetic variants have been associated with depression and neuroticism, likely because of limitations on sample size in previous studies. Subjective well-being, a phenotype that is genetically correlated with both of these traits, has not yet been studied with genome-wide data. We conducted genome-wide association studies of three phenotypes: subjective well-being (n = 298,420), depressive symptoms (n = 161,460), and neuroticism (n = 170,911). We identify 3 variants associated with subjective well-being, 2 variants associated with depressive symptoms, and 11 variants associated with neuroticism, including 2 inversion polymorphisms. The two loci associated with depressive symptoms replicate in an independent depression sample. Joint analyses that exploit the high genetic correlations between the phenotypes (P = 0.8) strengthen the overall credibility of the findings and allow us to identify additional variants. Across our phenotypes, loci regulating expression in central nervous system and adrenal or pancreas tissues are strongly enriched for association.

DOI 10.1038/ng.3552
Citations Scopus - 38Web of Science - 36
Co-authors John Attia, Liz Holliday, Christopher Oldmeadow
2016 Cheng THT, Thompson DJ, O'Mara TA, Painter JN, Glubb DM, Flach S, et al., 'Five endometrial cancer risk loci identified through genome-wide association analysis', Nature Genetics, 48 667-674 (2016) [C1]

© 2016 Nature America, Inc.We conducted a meta-analysis of three endometrial cancer genome-wide association studies (GWAS) and two follow-up phases totaling 7,737 endometrial can... [more]

© 2016 Nature America, Inc.We conducted a meta-analysis of three endometrial cancer genome-wide association studies (GWAS) and two follow-up phases totaling 7,737 endometrial cancer cases and 37,144 controls of European ancestry. Genome-wide imputation and meta-analysis identified five new risk loci of genome-wide significance at likely regulatory regions on chromosomes 13q22.1 (rs11841589, near KLF5), 6q22.31 (rs13328298, in LOC643623 and near HEY2 and NCOA7), 8q24.21 (rs4733613, telomeric to MYC), 15q15.1 (rs937213, in EIF2AK4, near BMF) and 14q32.33 (rs2498796, in AKT1, near SIVA1). We also found a second independent 8q24.21 signal (rs17232730). Functional studies of the 13q22.1 locus showed that rs9600103 (pairwise r 2 = 0.98 with rs11841589) is located in a region of active chromatin that interacts with the KLF5 promoter region. The rs9600103[T] allele that is protective in endometrial cancer suppressed gene expression in vitro, suggesting that regulation of the expression of KLF5, a gene linked to uterine development, is implicated in tumorigenesis. These findings provide enhanced insight into the genetic and biological basis of endometrial cancer.

DOI 10.1038/ng.3562
Citations Scopus - 7Web of Science - 6
Co-authors Mark Mcevoy, Liz Holliday, John Attia
2016 Lener MR, Scott RJ, Kluzniak W, Baszuk P, Cybulski C, Wiechowska-Kozlowska A, et al., 'Do founder mutations characteristic of some cancer sites also predispose to pancreatic cancer?', International Journal of Cancer, 139 601-606 (2016) [C1]

© 2016 UICC. Understanding of the etiology and risk of pancreatic cancer (PaCa) is still poorly understood. This study evaluated the prevalence of 10 Polish founder mutations in ... [more]

© 2016 UICC. Understanding of the etiology and risk of pancreatic cancer (PaCa) is still poorly understood. This study evaluated the prevalence of 10 Polish founder mutations in four genes among PaCa patients and assessed their possible association with the risk of disease in Poland. In the study 383 PaCa patients and 4,000 control subjects were genotyped for founder mutations in: BRCA1 (5382insC, 4153delA, C61G), CHEK2 (1100delC, IVS2 + 1G > A, del5395, I157T), NBS1 (657del5) and PALB2 (509-510delGA, 172-175delTTGT). A statistically significant association between the 657del5 mutation and an increased risk of pancreatic cancer was observed for NBS1 gene. The Slavic NBS1 gene mutation (657delACAAA) was detected in 8 of 383 (2.09%) unselected cases compared with 22 of 4,000 (0.55%) controls (OR: 3.80, p = 0.002). The PALB2 509-510delGA and 172-175delTTGT mutations combined were seen in 2 (0.52%) unselected cases of PaCa and in 8 (0.20%) of 4,000 controls (OR: 2.61, p = 0.49). For BRCA1, the three mutations combined were detected in 4 of 383 (1.04%) PaCa patients and in 17 of 4,000 (0.42%) controls (OR: 2.46, p = 0.20). CHEK2 mutations were not associated with the risk of pancreatic cancer (OR: 1.11, p = 0.72). The founder mutation in NBS1 (657del5) was associated with an increased risk of PaCa in heterozygous carriers, indicating that this mutation appears to predispose to cancer of the pancreas. By identifying pancreatic cancer risk groups, founder mutation testing in Poland should be considered for people at risk for PaCa.

DOI 10.1002/ijc.30116
Citations Scopus - 2Web of Science - 1
2016 Purrington KS, Visscher DW, Wang C, Yannoukakos D, Hamann U, Nevanlinna H, et al., 'Genes associated with histopathologic features of triple negative breast tumors predict molecular subtypes', Breast Cancer Research and Treatment, 157 117-131 (2016) [C1]

© 2016, Springer Science+Business Media New York. Distinct subtypes of triple negative (TN) breast cancer have been identified by tumor expression profiling. However, little is k... [more]

© 2016, Springer Science+Business Media New York. Distinct subtypes of triple negative (TN) breast cancer have been identified by tumor expression profiling. However, little is known about the relationship between histopathologic features of TN tumors, which reflect aspects of both tumor behavior and tumor microenvironment, and molecular TN subtypes. The histopathologic features of TN tumors were assessed by central review and 593 TN tumors were subjected to whole genome expression profiling using the Illumina Whole Genome DASL array. TN molecular subtypes were defined based on gene expression data associated with histopathologic features of TN tumors. Gene expression analysis yielded signatures for four TN subtypes (basal-like, androgen receptor positive, immune, and stromal) consistent with previous studies. Expression analysis also identified genes significantly associated with the 12 histological features of TN tumors. Development of signatures using these markers of histopathological features resulted in six distinct TN subtype signatures, including an additional basal-like and stromal signature. The additional basal-like subtype was distinguished by elevated expression of cell motility and glucose metabolism genes and reduced expression of immune signaling genes, whereas the additional stromal subtype was distinguished by elevated expression of immunomodulatory pathway genes. Histopathologic features that reflect heterogeneity in tumor architecture, cell structure, and tumor microenvironment are related to TN subtype. Accounting for histopathologic features in the development of gene expression signatures, six major subtypes of TN breast cancer were identified.

DOI 10.1007/s10549-016-3775-2
Citations Scopus - 3Web of Science - 2
2016 Hungate EA, Vora SR, Gamazon ER, Moriyama T, Best T, Hulur I, et al., 'A variant at 9p21.3 functionally implicates CDKN2B in paediatric B-cell precursor acute lymphoblastic leukaemia aetiology.', Nature communications, 7 10635 (2016) [C1]
Citations Scopus - 3Web of Science - 2
2016 Johnson EC, Bjelland DW, Howrigan DP, Abdellaoui A, Breen G, Borglum A, et al., 'No Reliable Association between Runs of Homozygosity and Schizophrenia in a Well-Powered Replication Study', PLOS Genetics, 12 e1006343-e1006343 (2016) [C1]
DOI 10.1371/journal.pgen.1006343
Co-authors Frans Henskens, Carmel Loughland, Ulrich Schall, Pat Michie
2016 De Vries PS, Chasman DI, Sabater-Lleal M, Chen MH, Huffman JE, Steri M, et al., 'A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration', Human Molecular Genetics, 25 358-370 (2016) [C1]

© The Author 2015. Published by Oxford University Press.Genome-wide association studies have previously identified 23 genetic loci associated with circulating fibrinogen concentr... [more]

© The Author 2015. Published by Oxford University Press.Genome-wide association studies have previously identified 23 genetic loci associated with circulating fibrinogen concentration. These studies used HapMap imputation and did not examine the X-chromosome. 1000 Genomes imputation provides better coverage of uncommon variants, and includes indels.We conducted a genome-wide association analysis of 34 studies imputed to the 1000 Genomes Project reference panel and including ~120 000 participants of European ancestry (95 806 participants with data on the X-chromosome). Approximately 10.7 million single-nucleotide polymorphisms and 1.2 million indelswere examined.We identified 41 genome-wide significant fibrinogen loci; of which, 18were newly identified. Therewere no genome-wide significant signals on the X-chromosome. The lead variants of five significant loci were indels. We further identified six additional independent signals, including three rare variants, at two previously characterized loci: FGB and IRF1. Together the 41 loci explain 3% of the variance in plasma fibrinogen concentration.

DOI 10.1093/hmg/ddv454
Citations Scopus - 5Web of Science - 4
Co-authors John Attia, Christopher Oldmeadow, Mark Mcevoy, Liz Holliday
2016 McKenzie R, Scott RJ, Otton G, Scurry J, 'Early changes of endometrial neoplasia revealed by loss of mismatch repair gene protein expression in a patient diagnosed with Lynch syndrome', PATHOLOGY, 48 78-80 (2016)
DOI 10.1016/j.pathol.2015.11.003
2016 Thompson ER, Rowley SM, Li N, McInerny S, Devereux L, Wong-Brown MW, et al., 'Panel testing for familial breast cancer: Calibrating the tension between research and clinical care', Journal of Clinical Oncology, 34 1455-1459 (2016) [C1]

© 2016 by American Society of Clinical Oncology. Purpose Gene panel sequencing is revolutionizing germline risk assessment for hereditary breast cancer. Despite scant evidence su... [more]

© 2016 by American Society of Clinical Oncology. Purpose Gene panel sequencing is revolutionizing germline risk assessment for hereditary breast cancer. Despite scant evidence supporting the role of many of these genes in breast cancer predisposition, results are often reported to families as the definitive explanation for their family history. We assessed the frequency of mutations in 18 genes included in hereditary breast cancer panels among index cases from families with breast cancer and matched population controls. Patients and Methods Cases (n= 2,000) were predominantly breast cancer-affected women referredto specialized Familial Cancer Centers on the basis of a strong family history of breast cancer and BRCA1 and BRCA2 wild type. Controls (n = 1,997) were cancer-free women from the LifePool study. Sequencing data were filtered for known pathogenic or novel loss-of-function mutations. Results Excluding 19 mutations identified in BRCA1 and BRCA2 among the cases and controls, a total of 78 cases (3.9%) and 33 controls (1.6%) were found to carry potentially actionable mutations. A significant excess of mutations was only observed for PALB2 (26 cases, four controls) and TP53 (five cases, zero controls), whereas no mutations were identified in STK11. Among the remaining genes, loss-of function mutations were rare, with similar frequency between cases and controls. Conclusion The frequency ofmutations in most breast cancer panel genes among individuals selected for possible hereditary breast cancer is low and, in many cases, similar or even lower than that observed among cancer-free population controls. Although multigene panels can significantly aid in cancer risk management and expedite clinical translation of new genes, they equally have the potential to provide clinical misinformation and harm at the individual level if the data are not interpreted cautiously.

DOI 10.1200/JCO.2015.63.7454
Citations Scopus - 20Web of Science - 18
Co-authors Michelle Wong-Brown
2016 Binder MD, Fox AD, Merlo D, Johnson LJ, Giuffrida L, Calvert SE, et al., 'Common and Low Frequency Variants in MERTK Are Independently Associated with Multiple Sclerosis Susceptibility with Discordant Association Dependent upon HLA-DRB1*15:01 Status', PLoS Genetics, 12 (2016) [C1]

© 2016 Binder et al.Multiple Sclerosis (MS) is a chronic inflammatory demyelinating disease of the central nervous system. The risk of developing MS is strongly influenced by gen... [more]

© 2016 Binder et al.Multiple Sclerosis (MS) is a chronic inflammatory demyelinating disease of the central nervous system. The risk of developing MS is strongly influenced by genetic predisposition, and over 100 loci have been established as associated with susceptibility. However, the biologically relevant variants underlying disease risk have not been defined for the vast majority of these loci, limiting the power of these genetic studies to define new avenues of research for the development of MS therapeutics. It is therefore crucial that candidate MS susceptibility loci are carefully investigated to identify the biological mechanism linking genetic polymorphism at a given gene to the increased chance of developing MS. MERTK has been established as an MS susceptibility gene and is part of a family of receptor tyrosine kinases known to be involved in the pathogenesis of demyelinating disease. In this study we have refined the association of MERTK with MS risk to independent signals from both common and low frequency variants. One of the associated variants was also found to be linked with increased expression of MERTK in monocytes and higher expression of MERTK was associated with either increased or decreased risk of developing MS, dependent upon HLA-DRB1*15:01 status. This discordant association potentially extended beyond MS susceptibility to alterations in disease course in established MS. This study provides clear evidence that distinct polymorphisms within MERTK are associated with MS susceptibility, one of which has the potential to alter MERTK transcription, which in turn can alter both susceptibility and disease course in MS patients.

DOI 10.1371/journal.pgen.1005853
Citations Scopus - 2
Co-authors Pablo Moscato, Jeannette Lechner-Scott
2016 Sanders KA, Benton MC, Lea RA, Maltby VE, Agland S, Griffin N, et al., 'Next-generation sequencing reveals broad down-regulation of microRNAs in secondary progressive multiple sclerosis CD4+T cells', CLINICAL EPIGENETICS, 8 (2016) [C1]
DOI 10.1186/s13148-016-0253-y
Citations Scopus - 2Web of Science - 2
Co-authors Vicki E Maltby, Jeannette Lechner-Scott
2016 Lener MR, Scott RJ, Wiechowska-Kozlowska A, Serrano-Fernández P, Baszuk P, Jaworska-Bieniek K, et al., 'Serum concentrations of selenium and copper in patients diagnosed with pancreatic cancer', Cancer Research and Treatment, 48 1056-1064 (2016) [C1]

© 2016 by the Korean Cancer Association. Purpose Understanding of the etiology and pathogenesis of pancreatic cancer (PaCa) is still insufficient. This study evaluated the associ... [more]

© 2016 by the Korean Cancer Association. Purpose Understanding of the etiology and pathogenesis of pancreatic cancer (PaCa) is still insufficient. This study evaluated the associations between concentrations of selenium (Se) and copper (Cu) in the serum of PaCa patients. Materials and Methods The study included 100 PaCa patients and 100 control subjects from the same geographical region in Poland. To determine the average concentration of Se, Cu, and ratio Cu:Se in the Polish population, assay for Se and Cu was performed in 480 healthy individuals. Serum levels of Se and Cu were measured using inductively coupled plasma mass spectrometry. Results In the control group, the average Se level was 76 µg/L and Cu 1,098 µg/L. The average Se level among PaCa patients was 60 µg/L and the mean Cu level was 1,432 µg/L. The threshold point at which any decrease in Se concentration was associated with PaCa was 67.45 µg/L. The threshold point of Cu level above which there was an increase in the prevalence of PaCa was 1,214.58 µg/L. In addition, a positive relationship was observed between increasing survival time and Se plasma level. Conclusion This retrospective study suggests that low levels of Se and high levels of Cu might influence development of PaCa and that higher levels of Se are associated with longer survival in patients with PaCa. The results suggest that determining the level of Se and Cu could be incorporated into a risk stratification scheme for the selection and surveillance control examination to complement existing screening and diagnostic procedures.

DOI 10.4143/crt.2015.282
Citations Scopus - 1Web of Science - 1
2016 Painter JN, Kaufmann S, O'Mara TA, Hillman KM, Sivakumaran H, Darabi H, et al., 'A Common Variant at the 14q32 Endometrial Cancer Risk Locus Activates AKT1 through YY1 Binding', American Journal of Human Genetics, 98 1159-1169 (2016) [C1]

© 2016 American Society of Human Genetics. A recent meta-analysis of multiple genome-wide association and follow-up endometrial cancer case-control datasets identified a novel ge... [more]

© 2016 American Society of Human Genetics. A recent meta-analysis of multiple genome-wide association and follow-up endometrial cancer case-control datasets identified a novel genetic risk locus for this disease at chromosome 14q32.33. To prioritize the functional SNP(s) and target gene(s) at this locus, we employed an in silico fine-mapping approach using genotyped and imputed SNP data for 6,608 endometrial cancer cases and 37,925 controls of European ancestry. Association and functional analyses provide evidence that the best candidate causal SNP is rs2494737. Multiple experimental analyses show that SNP rs2494737 maps to a silencer element located within AKT1, a member of the PI3K/AKT/MTOR intracellular signaling pathway activated in endometrial tumors. The rs2494737 risk A allele creates a YY1 transcription factor-binding site and abrogates the silencer activity in luciferase assays, an effect mimicked by transfection of YY1 siRNA. Our findings suggest YY1 is a positive regulator of AKT1, mediating the stimulatory effects of rs2494737 increasing endometrial cancer risk. Identification of an endometrial cancer risk allele within a member of the PI3K/AKT signaling pathway, more commonly activated in tumors by somatic alterations, raises the possibility that well tolerated inhibitors targeting this pathway could be candidates for evaluation as chemopreventive agents in individuals at high risk of developing endometrial cancer.

DOI 10.1016/j.ajhg.2016.04.012
2016 Sjursen W, McPhillips M, Scott RJ, Talseth-Palmer BA, 'Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations.', Molecular genetics & genomic medicine, 4 223-231 (2016) [C1]
Co-authors Bente Talseth-Palmer
2016 Groen K, Maltby VE, Sanders KA, Scott RJ, Tajouri L, Lechner-Scott J, 'Erythrocytes in multiple sclerosis - forgotten contributors to the pathophysiology?', Multiple Sclerosis Journal¿Experimental, Translational and Clinical, 2 2055217316649981-2055217316649981 (2016) [C1]
DOI 10.1177/2055217316649981
Co-authors Vicki E Maltby, Jeannette Lechner-Scott
2016 Wu JQ, Green MJ, Gardiner EJ, Tooney PA, Scott RJ, Carr VJ, Cairns MJ, 'Altered neural signaling and immune pathways in peripheral blood mononuclear cells of schizophrenia patients with cognitive impairment: A transcriptome analysis', Brain, Behavior, and Immunity, 53 194-206 (2016) [C1]

© 2015 Elsevier Inc.Cognitive deficits are a core feature of schizophrenia and contribute significantly to functional disability. We investigated the molecular pathways associate... [more]

© 2015 Elsevier Inc.Cognitive deficits are a core feature of schizophrenia and contribute significantly to functional disability. We investigated the molecular pathways associated with schizophrenia (SZ; n = 47) cases representing both 'cognitive deficit' (CD; n = 22) and 'cognitively spared' (CS; n = 25) subtypes of schizophrenia (based on latent class analysis of 9 cognitive performance indicators), compared with 49 healthy controls displaying 'normal' cognition. This was accomplished using gene-set analysis of transcriptome data derived from peripheral blood mononuclear cells (PBMCs). We detected 27 significantly altered pathways (19 pathways up-regulated and 8 down-regulated) in the combined SZ group and a further 6 pathways up-regulated in the CS group and 5 altered pathways (4 down-regulated and 1 up-regulated) in the CD group. The transcriptome profiling in SZ and cognitive subtypes were characterized by the up-regulated pathways involved in immune dysfunction (e.g., antigen presentation in SZ), energy metabolism (e.g., oxidative phosphorylation), and down-regulation of the pathways involved in neuronal signaling (e.g., WNT in SZ/CD and ERBB in SZ). When we looked for pathways that differentiated the two cognitive subtypes we found that the WNT signaling was significantly down-regulated (FDR < 0.05) in the CD group in accordance with the combined SZ cohort, whereas it was unaffected in the CS group. This suggested suppression of WNT signaling was a defining feature of cognitive decline in schizophrenia. The WNT pathway plays a role in both the development/function of the central nervous system and peripheral tissues, therefore its alteration in PBMCs may be indicative of an important genomic axis relevant to cognition in the neuropathology of schizophrenia.

DOI 10.1016/j.bbi.2015.12.010
Citations Scopus - 3Web of Science - 2
Co-authors Paul Tooney, Murray Cairns
2016 Walker MM, Keely SJ, Scott RJ, Talley NJ, 'Genetics, Mucosal Inflammation, and the Environment in Post-Infectious Chronic Gut Syndromes', The American Journal of Gastroenterology Supplements, 3 46-51 (2016) [C1]
DOI 10.1038/ajgsup.2016.14
Co-authors Nicholas Talley, Marjorie Walker, Simon Keely
2016 Hess JL, Tylee DS, Barve R, de Jong S, Ophoff RA, Kumarasinghe N, et al., 'Transcriptome-wide mega-analyses reveal joint dysregulation of immunologic genes and transcription regulators in brain and blood in schizophrenia', Schizophrenia Research, 176 114-124 (2016) [C1]

© 2016 The application of microarray technology in schizophrenia research was heralded as paradigm-shifting, as it allowed for high-throughput assessment of cell and tissue funct... [more]

© 2016 The application of microarray technology in schizophrenia research was heralded as paradigm-shifting, as it allowed for high-throughput assessment of cell and tissue function. This technology was widely adopted, initially in studies of postmortem brain tissue, and later in studies of peripheral blood. The collective body of schizophrenia microarray literature contains apparent inconsistencies between studies, with failures to replicate top hits, in part due to small sample sizes, cohort-specific effects, differences in array types, and other confounders. In an attempt to summarize existing studies of schizophrenia cases and non-related comparison subjects, we performed two mega-analyses of a combined set of microarray data from postmortem prefrontal cortices (n = 315) and from ex-vivo blood tissues (n = 578). We adjusted regression models per gene to remove non-significant covariates, providing best-estimates of transcripts dysregulated in schizophrenia. We also examined dysregulation of functionally related gene sets and gene co-expression modules, and assessed enrichment of cell types and genetic risk factors. The identities of the most significantly dysregulated genes were largely distinct for each tissue, but the findings indicated common emergent biological functions (e.g. immunity) and regulatory factors (e.g., predicted targets of transcription factors and miRNA species across tissues). Our network-based analyses converged upon similar patterns of heightened innate immune gene expression in both brain and blood in schizophrenia. We also constructed generalizable machine-learning classifiers using the blood-based microarray data. Our study provides an informative atlas for future pathophysiologic and biomarker studies of schizophrenia.

DOI 10.1016/j.schres.2016.07.006
Citations Scopus - 3Web of Science - 1
Co-authors Brian Kelly, Murray Cairns, Ulrich Schall, Paul Tooney
2016 Morten BC, Scott RJ, Avery-Kiejda KA, 'Comparison of three different methods for determining cell proliferation in breast cancer cell lines', Journal of Visualized Experiments, 2016 (2016) [C1]

© 2016 Journal of Visualized Experiments. Measuring cell proliferation can be performed by a number of different methods, each with varying levels of sensitivity, reproducibility... [more]

© 2016 Journal of Visualized Experiments. Measuring cell proliferation can be performed by a number of different methods, each with varying levels of sensitivity, reproducibility and compatibility with high-throughput formatting. This protocol describes the use of three different methods for measuring cell proliferation in vitro including conventional hemocytometer counting chamber, a luminescence-based assay that utilizes the change in the metabolic activity of viable cells as a measure of the relative number of cells, and a multi-mode cell imager that measures cell number using a counting algorithm. Each method presents its own advantages and disadvantages for the measurement of cell proliferation, including time, cost and high-throughput compatibility. This protocol demonstrates that each method could accurately measure cell proliferation over time, and was sensitive to detect growth at differing cellular densities. Additionally, measurement of cell proliferation using a cell imager was able to provide further information such as morphology, confluence and allowed for a continual monitoring of cell proliferation over time. In conclusion, each method is capable of measuring cell proliferation, but the chosen method is user-dependent.

DOI 10.3791/54350
Co-authors Kelly Kiejda
2016 Hauberg ME, Roussos P, Grove J, Børglum AD, Mattheisen M, 'Analyzing the Role of MicroRNAs in Schizophrenia in the Context of Common Genetic Risk Variants', JAMA Psychiatry, 73 369-369 (2016) [C1]
DOI 10.1001/jamapsychiatry.2015.3018
Co-authors Frans Henskens, Brian Kelly, Carmel Loughland, Pat Michie, Paul Tooney, Ulrich Schall, Murray Cairns
2016 Morten BC, Scott RJ, Avery-Kiejda KA, 'Comparison of the QuantiGene 2.0 assay and real-time RT-PCR in the detection of p53 isoform mRNA expression in formalin-fixed paraffin-embedded tissues- A preliminary study', PLoS ONE, 11 (2016) [C1]

© 2016 Morten et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and rep... [more]

© 2016 Morten et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. p53 is expressed as multiple smaller isoforms whose functions in cancer are not well understood. The p53 isoforms demonstrate abnormal expression in different cancers, suggesting they are important in modulating the function of full-length p53 (FLp53). The quantification of relative mRNA expression has routinely been performed using real-time PCR (qPCR). However, there are serious limitations when detecting p53 isoforms using this method, particularly for formalin-fixed paraffin-embedded (FFPE) tissues. The use of FFPE tumours would be advantageous to correlate expression of p53 isoforms with important clinical features of cancer. One alternative method of RNA detection is the hybridization-based QuantiGene 2.0 Assay, which has been shown to be advantageous for the detection of RNA from FFPE tissues. In this pilot study, we compared the QuantiGene 2.0 Assay to qPCR for the detection of FLp53 and its isoform ¿40p53 in matched fresh frozen (FF) and FFPE breast tumours. FLp53 mRNA expression was detected using qPCR in FF and FFPE tissues, but ¿40p53 mRNA was only detectable in FF tissues. Similar results were obtained for the QuantiGene 2.0 Assay. FLp53 relative mRNA expression was shown to be strongly correlated between the two methods (R 2 = 0.9927, p = 0.0031) in FF tissues, however ¿40p53 was not (R 2 = 0.4429, p = 0.3345). When comparing the different methods for the detection of FLp53 mRNA from FFPE and FF samples, no correlation (R 2 = 0.0002, p = 0.9863) was shown using the QuantiGene 2.0 Assay, and in contrast, the level of expression was highly correlated between the two tissues using qPCR (R 2 = 0.8753, p = 0.0644). These results suggest that both the QuantiGene 2.0 Assay and qPCR methods are inadequate for the quantification of ¿40p53 mRNA in FFPE tissues. Therefore, alternative methods of RNA detection and quantification are required to study the relative expression of ¿40p53 in FFPE samples.

DOI 10.1371/journal.pone.0165930
Co-authors Kelly Kiejda
2016 Johnson NA, Kypri K, Latter J, Attia J, McEvoy M, Dunlop A, Scott R, 'Genetic feedback to reduce alcohol consumption in hospital outpatients with risky drinking: Feasibility and acceptability', Public Health Research and Practice, 26 (2016) [C1]

© 2016 Johnson et al. Objective: There have been no trials in healthcare settings of genetic susceptibility feedback in relation to alcohol consumption. The purpose of this study... [more]

© 2016 Johnson et al. Objective: There have been no trials in healthcare settings of genetic susceptibility feedback in relation to alcohol consumption. The purpose of this study was to determine the feasibility and acceptability of conducting a full-scale randomised trial estimating the effect of personalised genetic susceptibility feedback on alcohol consumption in hospital outpatients with risky drinking. Methods: Outpatients =18 years of age who reported drinking more than 14 standard drinks in the past week or in a typical week were asked to provide a saliva sample for genetic testing. Genetic susceptibility feedback was posted to participants 6 months after recruitment. The co-primary outcomes were the proportion of participants who (i) provided a saliva sample that could be genotyped, and (ii) spoke with a genetic counsellor. Secondary outcomes included changes in patients' weekly alcohol consumption; scores on scales measuring readiness to change, importance of changing and confidence in ability to change drinking habits; knowledge about which cancers are alcohol-attributable; and acceptability of the saliva collection procedure and the genetic-feedback intervention. McNemar's test and paired t-tests were used to test for differences between baseline and follow-up in proportions and means, respectively. Results: Of 100 participants who provided a saliva sample, 93 had adequate DNA for at least one genotyping assay. Three participants spoke to a genetic counsellor. Patients' readiness to change their drinking, their views on the importance of changing and their stated confidence in their ability to change increased between baseline and follow-up. There was no increase in patients' knowledge about alcohol-attributable cancers nor any reduction in how much alcohol they drank 4 months after receiving the feedback. Most participants (80%) were somewhat comfortable or very comfortable with the process used to collect saliva, 84% understood the genetic feedback, 54% found it useful, 10% had sought support to reduce their drinking after receiving the feedback, and 37% reported that the feedback would affect how much they drink in the future. Conclusion: Results of this study suggest it would be feasible to conduct a methodologically robust trial estimating the effect of genetic susceptibility feedback on alcohol consumption in hospital outpatients with risky drinking.

DOI 10.17061/phrp2641645
Co-authors Kypros Kypri, Natalie Johnson, Joanna Latter, John Attia, Mark Mcevoy, A Dunlop
2016 Wong SQ, Scott R, Fox SB, 'KRAS mutation testing in colorectal cancer: the model for molecular pathology testing in the future', COLORECTAL CANCER, 5 73-80 (2016) [C1]
DOI 10.2217/crc-2015-0009
2016 Southey MC, Goldgar DE, Winqvist R, Pylkäs K, Couch F, Tischkowitz M, et al., 'PALB2, CHEK2 and ATM rare variants and cancer risk: Data from COGS', Journal of Medical Genetics, 53 800-811 (2016) [C1]

Background The rarity of mutations in PALB2, CHEK2 and ATM make it difficult to estimate precisely associated cancer risks. Population-based family studies have provided evidence ... [more]

Background The rarity of mutations in PALB2, CHEK2 and ATM make it difficult to estimate precisely associated cancer risks. Population-based family studies have provided evidence that at least some of these mutations are associated with breast cancer risk as high as those associated with rare BRCA2 mutations. We aimed to estimate the relative risks associated with specific rare variants in PALB2, CHEK2 and ATM via a multicentre case-control study. Methods We genotyped 10 rare mutations using the custom iCOGS array: PALB2 c.1592delT, c.2816T > G and c.3113G > A, CHEK2 c.349A > G, c.538C > T, c.715G > A, c.1036C > T, c.1312G > T, and c.1343T > G and ATM c.7271T > G. We assessed associations with breast cancer risk (42 671 cases and 42 164 controls), as well as prostate (22 301 cases and 22 320 controls) and ovarian (14 542 cases and 23 491 controls) cancer risk, for each variant. Results For European women, strong evidence of association with breast cancer risk was observed for PALB2 c.1592delT OR 3.44 (95% CI 1.39 to 8.52, p=7.1×10-5), PALB2 c.3113G > A OR 4.21 (95% CI 1.84 to 9.60, p=6.9×10-8) and ATM c.7271T > G OR 11.0 (95% CI 1.42 to 85.7, p=0.0012). We also found evidence of association with breast cancer risk for three variants in CHEK2, c.349A > G OR 2.26 (95% CI 1.29 to 3.95), c.1036C > T OR 5.06 (95% CI 1.09 to 23.5) and c.538C > T OR 1.33 (95% CI 1.05 to 1.67) (p=0.017). Evidence for prostate cancer risk was observed for CHEK2 c.1343T > G OR 3.03 (95% CI 1.53 to 6.03, p=0.0006) for African men and CHEK2 c.1312G > T OR 2.21 (95% CI 1.06 to 4.63, p=0.030) for European men. No evidence of association with ovarian cancer was found for any of these variants. Conclusions This report adds to accumulating evidence that at least some variants in these genes are associated with an increased risk of breast cancer that is clinically important.

DOI 10.1136/jmedgenet-2016-103839
Citations Scopus - 6Web of Science - 4
2016 Tan AG, Kifley A, Mitchell P, Rochtchina E, Flood VM, Cumming RG, et al., 'Associations between methylenetetrahydrofolate reductase polymorphisms, serum homocysteine levels, and incident cortical cataract', JAMA Ophthalmology, 134 522-528 (2016) [C1]

Copyright 2016 American Medical Association. All rights reserved. IMPORTANCE Methylenetetrahydrofolate reductase (MTHFR) polymorphisms have been shown to influence homocysteine le... [more]

Copyright 2016 American Medical Association. All rights reserved. IMPORTANCE Methylenetetrahydrofolate reductase (MTHFR) polymorphisms have been shown to influence homocysteine levels; homocysteine has been implicated as a cataractogenic stressor. OBJECTIVE To investigate the associations of MTHFR polymorphisms and serum homocysteine levels with incident cortical cataract in an older population. DESIGN, SETTING, AND PARTICIPANTS From 1992 to 1994, a population-based cohort study, the Blue Mountains Eye Study, was conducted with 3654 residents (82.4%of eligible participants) of the Blue Mountains region aged 49 years and older. At the second (1997-1999, 5-year follow-up) and third (2002-2004, 10-year follow-up) surveys, 2334 (75.8% of survivors) and 1952 (76.7%of survivors) were examined, respectively. For this report, the second survey serves as baseline when homocysteine levels were assessed, and 5-year incidence of cataract refers to incidence estimated from the second to the third survey. After excluding participants with no follow-up data or DNA or who had previous cortical cataract or cataract surgery, 757 participants were included in gene and environment analyses. This current project on associations with cataract was designed initially March 19, 2013, and completed April 14, 2014. Cataract was assessed using the Wisconsin Cataract Grading system. Two MTHFR polymorphisms, C677T (rs1801133) and A1298C (rs1801131), were included. Serum homocysteine levels were assessed following standard methods. MAIN OUTCOMES AND MEASURES Logistic regression modelswere used to estimate odds ratios (ORs) and 95%confidence intervals for incident cortical cataract, after adjusting for age, sex, smoking status, hypertension, diabetes, education, andmyopia. Path analysis was performed to explore a possible pathway of MTHFR polymorphisms via homocysteine levels to cortical cataract. RESULTS The mean (SD) age of the 1726 participants in the Blue Mountains Eye Study 2 cohort with normal homocysteine levels was 68.3 (8.1) years and 73.2 (8.5) years for those with elevated homocysteine levels. Both the C677T polymorphism (CT/TT vs CC: OR = 1.50; 95%CI = 1.01-2.23) and elevated homocysteine levels ( > 15 ìmol/L: OR = 2.24; 95% CI = 1.38-3.63) were independently associated with increased risk of cortical cataract. Path analysis showed that the genetic effect on cortical cataract was partially mediated via homocysteine levels. Combined CT/TT genotypes and elevated homocysteine levels were associated with a 3-fold risk of cortical cataract (OR = 3.74; 95%CI = 1.79-7.80). The synergy index of both exposures was 1.34 (95%CI = 0.44-4.01). CONCLUSIONS AND RELEVANCE MTHFR polymorphism and elevated homocysteine levels contributed separately and jointly to increased risk of cortical cataract. If these findings are confirmed, homocysteine levels may be a therapeutic target to reduce risk of cortical cataract in persons carrying genetic risk.

DOI 10.1001/jamaophthalmol.2016.0167
Citations Scopus - 1
Co-authors Liz Holliday
2016 Easton DF, Lesueur F, Decker B, Michailidou K, Li J, Allen J, et al., 'No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing', JOURNAL OF MEDICAL GENETICS, 53 298-309 (2016)
DOI 10.1136/jmedgenet-2015-103529
Citations Scopus - 15Web of Science - 11
Co-authors Michelle Wong-Brown
2016 Franke B, Stein JL, Ripke S, Anttila V, Hibar DP, van Hulzen KJE, et al., 'Genetic influences on schizophrenia and subcortical brain volumes: large-scale proof of concept', Nature Neuroscience, 19 420-431 (2016) [C1]
DOI 10.1038/nn.4228
Citations Scopus - 20
Co-authors Brian Kelly, Frans Henskens, Pat Michie, Paul Tooney, Ulrich Schall, Murray Cairns, Carmel Loughland
2016 Schall U, scott RJ, tooney P, 'Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects', Nature Genetics, (2016)
DOI 10.1038/ng.3725
Citations Scopus - 7Web of Science - 5
Co-authors Frans Henskens, Carmel Loughland, Paul Tooney, Pat Michie, Ulrich Schall, Murray Cairns, Brian Kelly
2016 Wong-Brown M, McPhillips M, Gleeson M, Spigelman AD, Meldrum CJ, Dooley S, Scott RJ, 'When is a mutation not a mutation: the case of the c.594-2A>C splice variant in a woman harbouring another BRCA1 mutation in trans.', Hered Cancer Clin Pract, 14 6 (2016) [C1]
DOI 10.1186/s13053-015-0045-y
Co-authors Michelle Wong-Brown
2016 Bolton KA, Avery-Kiejda KA, Holliday EG, Attia J, Bowden NA, Scott RJ, 'A polymorphic repeat in the IGF1 promoter influences the risk of endometrial cancer', ENDOCRINE CONNECTIONS, 5 115-122 (2016) [C1]
DOI 10.1530/EC-16-0003
Citations Web of Science - 1
Co-authors John Attia, Nikola Bowden, Liz Holliday, Kelly Kiejda
2016 Li N, Thompson ER, Rowley SM, McInerny S, Devereux L, Goode D, et al., 'Reevaluation of RINT1 as a breast cancer predisposition gene', Breast Cancer Research and Treatment, 159 385-392 (2016) [C1]
DOI 10.1007/s10549-016-3944-3
Citations Scopus - 2Web of Science - 2
Co-authors Michelle Wong-Brown
2016 Thompson DJ, O'Mara TA, Glubb DM, Painter JN, Cheng T, Folkerd E, et al., 'CYP19A1 fine-mapping and Mendelian randomization: Estradiol is causal for endometrial cancer', Endocrine-Related Cancer, 23 77-91 (2016) [C1]

© 2016 The authors.Candidate gene studies have reported CYP19A1 variants to be associated with endometrial cancerandwith estradiol (E2) concentrations.We analyzed2937singlenucleo... [more]

© 2016 The authors.Candidate gene studies have reported CYP19A1 variants to be associated with endometrial cancerandwith estradiol (E2) concentrations.We analyzed2937singlenucleotidepolymorphisms (SNPs) in 6608 endometrial cancer cases and 37 925 controls and report the first genome widesignificant association between endometrial cancer and a CYP19A1 SNP (rs727479 in intron 2, P=4.8×10-11). SNP rs727479 was also among those most strongly associated with circulating E2 concentrations in 2767 post-menopausal controls (P=7.4×10-8). The observed endometrial cancer odds ratio per rs727479 A-allele (1.15, CI=1.11-1.21) is compatible with that predicted by theobservedeffectonE2 concentrations (1.09, CI=1.03-1.21), consistentwith the hypothesis that endometrial cancer risk is driven by E2. From 28 candidate-causal SNPs, 12 co-located with three putative gene-regulatory elements and their risk alleles associated with higher CYP19A1 expression in bioinformatical analyses. For both phenotypes, the associationswith rs727479 were stronger amongwomen with a higher BMI (PinteractionZ0.034 and 0.066 respectively), suggesting a biologically plausible gene-environment interaction.

DOI 10.1530/ERC-15-0386
Citations Scopus - 7Web of Science - 7
Co-authors John Attia, Mark Mcevoy, Liz Holliday
2016 Sekar A, Bialas AR, de Rivera H, Davis A, Hammond TR, Kamitaki N, et al., 'Schizophrenia risk from complex variation of complement component 4', Nature, 530 177-183 (2016) [C1]
DOI 10.1038/nature16549
Co-authors Brian Kelly, Ulrich Schall, Pat Michie, Frans Henskens, Paul Tooney, Murray Cairns, Carmel Loughland
2016 Morten BC, Wong-Brown MW, Scott RJ, Avery-Kiejda KA, 'The presence of the intron 3 16 bp duplication polymorphism of p53 (rs17878362) in breast cancer is associated with a low ¿40p53:p53 ratio and better outcome', Carcinogenesis, 37 81-86 (2016) [C1]

© The Author 2015. Published by Oxford University Press. All rights reserved.Breast cancer is the most common female cancer, but it has relatively low rates of p53 mutations, sug... [more]

© The Author 2015. Published by Oxford University Press. All rights reserved.Breast cancer is the most common female cancer, but it has relatively low rates of p53 mutations, suggesting other mechanisms are responsible for p53 inactivation. We have shown that the p53 isoform, ¿40p53, is highly expressed in breast cancer, where it may contribute to p53 inactivation. ¿40p53 can be produced by alternative splicing of p53 in intron 2 and this is regulated by the formation of G-quadruplex structures in p53 intron 3, from which the nucleotides forming these structures overlap with a common polymorphism, rs17878362. rs17878362 alters p53 splicing to decrease fully spliced p53 messenger RNA (mRNA) in vitro following ionizing radiation and this in turn alters ¿40p53:p53. Hence, the presence of rs17878362 may be important in regulating ¿40p53:p53 in breast cancer. This study aimed to determine if rs17878362 was associated with altered ¿40p53 and p53 expression and outcome in breast cancer. We sequenced p53 in breast tumours from 139 patients and compared this with ¿40p53 and p53 mRNA expression. We found that the ratio of ¿40p53:p53 was significantly lower in tumours homozygous for the polymorphic A2 allele compared with those who were wild-type (A1/A1). Furthermore, there was a lower proportion of breast cancers carrying the A2 allele from patients who subsequently developed metastasis compared with those that did not. Finally, we show that patients whose tumours carried the polymorphic A2 allele had significantly better disease-free survival. These results show that rs17878362 is associated with a low ¿40p53:p53 ratio in breast cancer and that this is associated with better outcome.

DOI 10.1093/carcin/bgv164
Citations Scopus - 2Web of Science - 2
Co-authors Kelly Kiejda, Michelle Wong-Brown
2016 Grimson S, Cox AJ, Pringle KG, Burns C, Lumbers ER, Blackwell CC, Scott RJ, 'The prevalence of unique SNPs in the renin-angiotensin system highlights the need for pharmacogenetics in Indigenous Australians', Clinical and Experimental Pharmacology and Physiology, 43 157-160 (2016) [C1]

© 2016 John Wiley & Sons Australia, Ltd.Genetic differences between ethnic populations affect susceptibility to disease and efficacy of drugs. This study examined and compared th... [more]

© 2016 John Wiley & Sons Australia, Ltd.Genetic differences between ethnic populations affect susceptibility to disease and efficacy of drugs. This study examined and compared the prevalence of single nucleotide polymorphisms (SNPs) in genes of the renin-angiotensin system (RAS) in a desert community of Indigenous Australians and in non-Indigenous Australians. The polymorphisms were angiotensinogen, AGT G-217A (rs5049); AGT G+174A (rs4762); Angiotensin II type 1 receptor, AGTR1 A+1166C (rs5186); angiotensin converting enzyme, ACE A-240T (rs4291), ACE T-93C (rs4292); renin, REN T+1142C (rs5706). They were measured using allelic discrimination assays. The prevalence of REN T+1142C SNP was similar in the two populations; 99% were homozygous for the T allele. All other SNPs were differently distributed between the two populations (P < 0.0001). In non-Indigenous Australians, the A allele at position 204 of ACE rs4291 was prevalent (61.8%) whereas in the Indigenous Australians the A allele was less prevalent (28%). For rs4292, the C allele had a prevalence of 37.9% in non-Indigenous Australians but in Indigenous Australians the prevalence was only 1%. No Indigenous individuals were homozygous for the C allele of AGTR1 (rs5186). Thus the prevalence of RAS SNPs in this Indigenous Australian desert community was different from non-Indigenous Australians as was the prevalence of cytokine SNPs (as shown in a previous study). These differences may affect susceptibility to chronic renal and cardiovascular disease and may alter the efficacy of drugs used to inhibit the RAS. These studies highlight the need to study the pharmacogenetics of drug absorption, distribution, metabolism and excretion in Indigenous Australians for safe prescribing guidelines.

DOI 10.1111/1440-1681.12525
Co-authors Kirsty Pringle, Caroline Blackwell
2016 Masson AL, Talseth-Palmer BA, Evans TJ, McElduff P, Spigelman AD, Hannan GN, Scott RJ, 'Copy number variants associated with 18p11.32, DCC and the promoter 1B region of APC in colorectal polyposis patients', Meta Gene, 7 95-104 (2016) [C1]

© 2016 .Familial Adenomatous Polyposis (FAP) is the second most common inherited predisposition to colorectal cancer (CRC) associated with the development of hundreds to thousand... [more]

© 2016 .Familial Adenomatous Polyposis (FAP) is the second most common inherited predisposition to colorectal cancer (CRC) associated with the development of hundreds to thousands of adenomas in the colon and rectum. Mutations in APC are found in ~. 80% polyposis patients with FAP. In the remaining 20% no genetic diagnosis can be provided suggesting other genes or mechanisms that render APC inactive may be responsible. Copy number variants (CNVs) remain to be investigated in FAP and may account for disease in a proportion of polyposis patients. A cohort of 56 polyposis patients and 40 controls were screened for CNVs using the 2.7M microarray (Affymetrix) with data analysed using ChAS (Affymetrix). A total of 142 CNVs were identified unique to the polyposis cohort suggesting their involvement in CRC risk. We specifically identified CNVs in four unrelated polyposis patients among CRC susceptibility genes APC, DCC, MLH1 and CTNNB1 which are likely to have contributed to disease development in these patients. A recurrent deletion was observed at position 18p11.32 in 9% of the patients screened that was of particular interest. Further investigation is necessary to fully understand the role of these variants in CRC risk given the high prevalence among the patients screened.

DOI 10.1016/j.mgene.2015.12.005
Citations Scopus - 1Web of Science - 1
Co-authors Bente Talseth-Palmer, Patrick Mcelduff
2016 Ibrahim-Verbaas CA, Bressler J, Debette S, Schuur M, Smith AV, Bis JC, et al., 'GWAS for executive function and processing speed suggests involvement of the CADM2 gene', Molecular Psychiatry, 21 189-197 (2016) [C1]

© 2016 Macmillan Publishers Limited All rights reserved.To identify common variants contributing to normal variation in two specific domains of cognitive functioning, we conducte... [more]

© 2016 Macmillan Publishers Limited All rights reserved.To identify common variants contributing to normal variation in two specific domains of cognitive functioning, we conducted a genome-wide association study (GWAS) of executive functioning and information processing speed in non-demented older adults from the CHARGE (Cohorts for Heart and Aging Research in Genomic Epidemiology) consortium. Neuropsychological testing was available for 5429-32 070 subjects of European ancestry aged 45 years or older, free of dementia and clinical stroke at the time of cognitive testing from 20 cohorts in the discovery phase. We analyzed performance on the Trail Making Test parts A and B, the Letter Digit Substitution Test (LDST), the Digit Symbol Substitution Task (DSST), semantic and phonemic fluency tests, and the Stroop Color and Word Test. Replication was sought in 1311-21860 subjects from 20 independent cohorts. A significant association was observed in the discovery cohorts for the single-nucleotide polymorphism (SNP) rs17518584 (discovery P-value=3.12 × 10 -8) and in the joint discovery and replication meta-analysis (P-value=3.28 × 10 -9 after adjustment for age, gender and education) in an intron of the gene cell adhesion molecule 2 (CADM2) for performance on the LDST/DSST. Rs17518584 is located about 170 kb upstream of the transcription start site of the major transcript for the CADM2 gene, but is within an intron of a variant transcript that includes an alternative first exon. The variant is associated with expression of CADM2 in the cingulate cortex (P-value=4 × 10 -4). The protein encoded by CADM2 is involved in glutamate signaling (P-value=7.22 × 10 -15), gamma-aminobutyric acid (GABA) transport (P-value=1.36 × 10 -11) and neuron cell-cell adhesion (P-value=1.48 × 10 -13). Our findings suggest that genetic variation in the CADM2 gene is associated with individual differences in information processing speed.

DOI 10.1038/mp.2015.37
Citations Scopus - 9Web of Science - 6
Co-authors Christopher Oldmeadow, Peter Schofield, John Attia, Liz Holliday
2016 Talseth-Palmer BA, Bauer DC, Sjursen W, Evans TJ, Mcphillips M, Proietto A, et al., 'Targeted next-generation sequencing of 22 mismatch repair genes identifies Lynch syndrome families', Cancer Medicine, 5 929-941 (2016) [C1]

© 2016 Published by John Wiley & Sons Ltd.Causative germline mutations in mismatch repair (MMR) genes can only be identified in ~50% of families with a clinical diagnosis of the ... [more]

© 2016 Published by John Wiley & Sons Ltd.Causative germline mutations in mismatch repair (MMR) genes can only be identified in ~50% of families with a clinical diagnosis of the inherited colorectal cancer (CRC) syndrome hereditary nonpolyposis colorectal cancer (HNPCC)/Lynch syndrome (LS). Identification of these patients are critical as they are at substantially increased risk of developing multiple primary tumors, mainly colorectal and endometrial cancer (EC), occurring at a young age. This demonstrates the need to develop new and/or more thorough mutation detection approaches. Next-generation sequencing (NGS) was used to screen 22 genes involved in the DNA MMR pathway in constitutional DNA from 14 HNPCC and 12 sporadic EC patients, plus 2 positive controls. Several softwares were used for analysis and functional annotation. We identified 5 exonic indel variants, 42 exonic nonsynonymous single-nucleotide variants (SNVs) and 1 intronic variant of significance. Three of these variants were class 5 (pathogenic) or class 4 (likely pathogenic), 5 were class 3 (uncertain clinical relevance) and 40 were classified as variants of unknown clinical significance. In conclusion, we have identified two LS families from the sporadic EC patients, one without a family history of cancer, supporting the notion for universal MMR screening of EC patients. In addition, we have detected three novel class 3 variants in EC cases. We have, in addition discovered a polygenic interaction which is the most likely cause of cancer development in a HNPCC patient that could explain previous inconsistent results reported on an intronic EXO1 variant.

DOI 10.1002/cam4.628
Citations Scopus - 2Web of Science - 2
Co-authors Bente Talseth-Palmer
2016 Bolton KA, Holliday EG, Attia J, Bowden NA, Avery-Kiejda KA, Scott RJ, 'A novel polymorphic repeat in the upstream regulatory region of the estrogen-induced gene EIG121 is not associated with the risk of developing breast or endometrial cancer', BMC Research Notes, 9 (2016) [C1]

© 2016 The Author(s). Background: The estrogen-induced gene 121 (EIG121) has been associated with breast and endometrial cancers, but its mechanism of action remains unknown. In ... [more]

© 2016 The Author(s). Background: The estrogen-induced gene 121 (EIG121) has been associated with breast and endometrial cancers, but its mechanism of action remains unknown. In a genome-wide search for tandem repeats, we found that EIG121 contains a short tandem repeat (STR) in its upstream regulatory region which has the potential to alter gene expression. The presence of this STR has not previously been analysed in relation to breast or endometrial cancer risk. Results: In this study, the lengths of this STR were determined by PCR, fragment analysis and sequencing using DNA from 223 breast cancer patients, 204 endometrial cancer patients and 220 healthy controls to determine if they were associated with the risk of developing breast or endometrial cancer. We found this repeat to be highly variable with the number of copies of the AG motif ranging from 27 to 72 and having a bimodal distribution. No statistically significant association was identified between the length of this STR and the risk of developing breast or endometrial cancer or age at diagnosis. Conclusions: The STR in the upstream regulatory region of EIG121 is highly polymorphic, but is not associated with the risk of developing breast or endometrial cancer in the cohorts analysed here. While this polymorphic STR in the regulatory region of EIG121 appears to have no impact on the risk of developing breast or endometrial cancer, its association with disease recurrence or overall survival remains to be determined.

DOI 10.1186/s13104-016-2086-3
Citations Scopus - 1
Co-authors Nikola Bowden, John Attia, Kelly Kiejda, Liz Holliday
2016 Bigdeli TB, Ripke S, Bacanu S-A, Lee SH, Wray NR, Gejman PV, et al., 'Genome-wide association study reveals greater polygenic loading for schizophrenia in cases with a family history of illness', American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 171 276-289 (2016) [C1]
DOI 10.1002/ajmg.b.32402
Co-authors Carmel Loughland, Ulrich Schall, Pat Michie, Frans Henskens
2016 Lubinski J, Scott RJ, Sijmons R, Theissen SM, 'Thank you to all our manuscript reviewers in 2015.', Hered Cancer Clin Pract, 14 7 (2016)
DOI 10.1186/s13053-016-0047-4
2016 Pringle KG, Delforce SJ, Wang Y, Ashton KA, Proietto A, Otton G, et al., 'Renin-angiotensin system gene polymorphisms and endometrial cancer', ENDOCRINE CONNECTIONS, 5 128-135 (2016) [C1]
DOI 10.1530/EC-15-0112
Citations Web of Science - 1
Co-authors Kirsty Pringle, Caroline Blackwell
2016 Guo ST, Chi MN, Yang RH, Guo XY, Zan LK, Wang CY, et al., 'INPP4B is an oncogenic regulator in human colon cancer', Oncogene, 35 3049-3061 (2016) [C1]

© 2016 Macmillan Publishers Limited. All rights reserved. Inositol polyphosphate 4-phosphatase type II (INPP4B) negatively regulates phosphatidylinositol 3-kinase signaling and i... [more]

© 2016 Macmillan Publishers Limited. All rights reserved. Inositol polyphosphate 4-phosphatase type II (INPP4B) negatively regulates phosphatidylinositol 3-kinase signaling and is a tumor suppressor in some types of cancers. However, we have found that it is frequently upregulated in human colon cancer cells. Here we show that silencing of INPP4B blocks activation of Akt and serum-and glucocorticoid-regulated kinase 3 (SGK3), inhibits colon cancer cell proliferation and retards colon cancer xenograft growth. Conversely, overexpression of INPP4B increases proliferation and triggers anchorage-independent growth of normal colon epithelial cells. Moreover, we demonstrate that the effect of INPP4B on Akt and SGK3 is associated with inactivation of phosphate and tensin homolog through its protein phosphatase activity and that the increase in INPP4B is due to Ets-1-mediated transcriptional upregulation in colon cancer cells. Collectively, these results suggest that INPP4B may function as an oncogenic driver in colon cancer, with potential implications for targeting INPP4B as a novel approach to treat this disease.

DOI 10.1038/onc.2015.361
Citations Scopus - 5Web of Science - 3
Co-authors Chenchen Jiang, Xu Zhang, Hubert Hondermarck, Lei Jin, Stephen Ackland, Rick Thorne
2016 Pattaro C, Teumer A, Gorski M, Chu AY, Li M, Mijatovic V, et al., 'Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function', NATURE COMMUNICATIONS, 7 (2016) [C1]
DOI 10.1038/ncomms10023
Citations Scopus - 31Web of Science - 33
Co-authors John Attia, Mark Mcevoy, Liz Holliday
2016 Couch FJ, Kuchenbaecker KB, Michailidou K, Mendoza-Fandino GA, Nord S, Lilyquist J, et al., 'Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer', NATURE COMMUNICATIONS, 7 (2016) [C1]
DOI 10.1038/ncomms11375
Citations Scopus - 8Web of Science - 7
2016 Minelli C, Dean CH, Hind M, Alves AC, Amaral AFS, Siroux V, et al., 'Association of Forced Vital Capacity with the Developmental Gene NCOR2', PLOS ONE, 11 e0147388-e0147388 (2016) [C1]
DOI 10.1371/journal.pone.0147388
Citations Scopus - 2
Co-authors Liz Holliday, Christopher Oldmeadow, John Attia
2016 Srinivasan S, Bettella F, Mattingsdal M, Wang Y, Witoelar A, Schork AJ, et al., 'Genetic Markers of Human Evolution Are Enriched in Schizophrenia', Biological Psychiatry, 80 284-292 (2016) [C1]
DOI 10.1016/j.biopsych.2015.10.009
Co-authors Frans Henskens, Carmel Loughland, Ulrich Schall, Brian Kelly, Pat Michie, Murray Cairns, Paul Tooney
2016 Mehta D, Tropf FC, Gratten J, Bakshi A, Zhu Z, Bacanu SA, et al., 'Evidence for Genetic Overlap Between Schizophrenia and Age at First Birth in Women.', JAMA psychiatry, 73 497-505 (2016) [C1]
Co-authors Pat Michie, Murray Cairns, Frans Henskens, Carmel Loughland, Paul Tooney, Ulrich Schall
2016 Wang Y, Thompson WK, Schork AJ, Holland D, Chen C-H, Bettella F, et al., 'Leveraging Genomic Annotations and Pleiotropic Enrichment for Improved Replication Rates in Schizophrenia GWAS', PLOS Genetics, 12 e1005803-e1005803 (2016) [C1]
DOI 10.1371/journal.pgen.1005803
Co-authors Paul Tooney, Frans Henskens, Carmel Loughland, Pat Michie, Brian Kelly, Murray Cairns, Ulrich Schall
2016 Mathe A, Wong-Brown M, Locke WJ, Stirzaker C, Braye SG, Forbes JF, et al., 'DNA methylation profile of triple negative breast cancer-specific genes comparing lymph node positive patients to lymph node negative patients', SCIENTIFIC REPORTS, 6 (2016) [C1]
DOI 10.1038/srep33435
Co-authors John Forbes, Kelly Kiejda, Michelle Wong-Brown
2016 Mather KA, Thalamuthu A, Oldmeadow C, Song F, Armstrong NJ, Poljak A, et al., 'Genome-wide significant results identified for plasma apolipoprotein H levels in middle-aged and older adults', Scientific Reports, 6 (2016) [C1]

Apolipoprotein H (ApoH) is a multi-functional plasma glycoprotein that has been associated with negative health outcomes. ApoH levels have high heritability. We undertook a genome... [more]

Apolipoprotein H (ApoH) is a multi-functional plasma glycoprotein that has been associated with negative health outcomes. ApoH levels have high heritability. We undertook a genome-wide association study of ApoH levels using the largest sample to date and replicated the results in an independent cohort (total N = 1,255). In the discovery phase, a meta-analysis of two cohorts, the Sydney Memory and Ageing Study (Sydney MAS) and the Older Australian Twins Study (OATS) (n = 942) revealed genome-wide significant results in or near the APOH gene on chromosome 17 (top SNP, rs7211380, p = 1 × 10-11). The results were replicated in an independent cohort, the Hunter Community Study (p < 0.002) (n = 313). Conditional and joint analysis (COJO) confirmed the association of the chromosomal 17 region with ApoH levels. The set of independent SNPs identified by COJO explained 23% of the variance. The relationships between the top SNPs and cardiovascular/lipid/cognition measures and diabetes were assessed in Sydney MAS, with suggestive results observed for diabetes and cognitive performance. However, replication of these results in the smaller OATS cohort was not found. This work provides impetus for future research to better understand the contribution of genetics to ApoH levels and its possible impacts on health.

DOI 10.1038/srep23675
Citations Scopus - 1Web of Science - 2
Co-authors Peter Schofield, John Attia, Christopher Oldmeadow, Mark Mcevoy, Liz Holliday
2015 Dun MD, Chalkley RJ, Faulkner S, Keene S, Avery-Kiejda KA, Scott RJ, et al., 'Proteotranscriptomic profiling of 231-BR breast cancer cells: Identification of potential biomarkers and therapeutic targets for brain metastasis', Molecular and Cellular Proteomics, 14 2316-2330 (2015) [C1]

© 2015 by The American Society for Biochemistry and Molecular Biology, Inc.Brain metastases are a devastating consequence of cancer and currently there are no specific biomarkers... [more]

© 2015 by The American Society for Biochemistry and Molecular Biology, Inc.Brain metastases are a devastating consequence of cancer and currently there are no specific biomarkers or therapeutic targets for risk prediction, diagnosis, and treatment. Here the proteome of the brain metastatic breast cancer cell line 231-BR has been compared with that of the parental cell line MDA-MB-231, which is also metastatic but has no organ selectivity. Using SILAC and nanoLC-MS/MS, 1957 proteins were identified in reciprocal labeling experiments and 1584 were quantified in the two cell lines. A total of 152 proteins were confidently determined to be up- or down-regulated by more than twofold in 231-BR. Of note, 112/152 proteins were decreased as compared with only 40/152 that were increased, suggesting that down-regulation of specific proteins is an important part of the mechanism underlying the ability of breast cancer cells to metastasize to the brain. When matched against transcriptomic data, 43% of individual protein changes were associated with corresponding changes in mRNA, indicating that the transcript level is a limited predictor of protein level. In addition, differential miRNA analyses showed that most miRNA changes in 231-BR were up- (36/45) as compared with down-regulations (9/45). Pathway analysis revealed that proteome changes were mostly related to cell signaling and cell cycle, metabolism and extracellular matrix remodeling. The major protein changes in 231-BR were confirmed by parallel reaction monitoring mass spectrometry and consisted in increases (by more than fivefold) in the matrix metalloproteinase-1, ephrin-B1, stomatin, myc target-1, and decreases (by more than 10-fold) in transglutaminase-2, the S100 calcium-binding protein A4, and L-plastin. The clinicopathological significance of these major proteomic changes to predict the occurrence of brain metastases, and their potential value as therapeutic targets, warrants further investigation.

DOI 10.1074/mcp.M114.046110
Citations Scopus - 8Web of Science - 9
Co-authors Murray Cairns, Matt Dun, Hubert Hondermarck, Kelly Kiejda
2015 Kurlapska A, Serrano-Fernández P, Baszuk P, Gupta S, Starzynska T, Malecka-Panas E, et al., 'Cumulative effects of genetic markers and the detection of advanced colorectal neoplasias by population screening', Clinical Genetics, 88 234-240 (2015) [C1]

© 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.Genetic markers associated with colorectal cancer may be used in population screening for the early identificatio... [more]

© 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.Genetic markers associated with colorectal cancer may be used in population screening for the early identification of patients at elevated risk of disease. We genotyped 3059 individuals with no cancer family history for eight markers previously associated with colorectal cancer. After colonoscopy, the genetic profile of cases with advanced colorectal neoplasia (213) was compared with the rest (2846). rs2066847 and rs6983267 were significantly associated with the risk of advanced colorectal neoplasia but with limited effect on their own [odds ratio (OR) 1.59; 95% confidence interval (CI) 1.02-2.41; p=0.033 and OR 1.45; 95% CI 1.02-2.12; p=0.044, respectively]. Cumulative effects, in contrast, were associated with high risk: the combination of rs2066847, rs6983267, rs4779584, rs3802842 and rs4939827 minimized the number of markers considered, while maximizing the relative size of the carrier group and the risk associated to it, for example, for at least two cumulated risk markers, OR is 2.57 (95% CI 1.50-4.71; corrected p-value 0.0079) and for three or more, OR is 3.57 (95% CI 1.91-6.96; corrected p-value 0.00074). The identification of cumulative models of - otherwise - low-risk markers could be valuable in defining risk groups, within an otherwise low-risk population (no cancer family history).

DOI 10.1111/cge.12481
Citations Web of Science - 2
2015 Stirzaker C, Zotenko E, Song JZ, Qu W, Nair SS, Locke WJ, et al., 'Methylome sequencing in triple-negative breast cancer reveals distinct methylation clusters with prognostic value', Nature Communications, 6 1-11 (2015) [C1]
DOI 10.1038/ncomms6899
Citations Scopus - 32Web of Science - 30
Co-authors Kelly Kiejda, John Forbes
2015 Moscovis SM, Gordon AE, Al Madani OM, Gleeson M, Scott RJ, Hall ST, et al., 'Genetic and environmental factors affecting TNF-a responses in relation to sudden infant death syndrome', Frontiers in Immunology, 6 (2015) [C1]

© 2015 Moscovis, Gordon, Al Madani, Gleeson, Scott, Hall, Burns and Blackwell.Dysregulation of the inflammatory responses has been suggested to contribute to the events leading t... [more]

© 2015 Moscovis, Gordon, Al Madani, Gleeson, Scott, Hall, Burns and Blackwell.Dysregulation of the inflammatory responses has been suggested to contribute to the events leading to sudden infant deaths. Our objectives were (1) to analyze a single nucleotide polymorphism (SNP) associated with high levels of tumor necrosis factor-a (TNF-a) responses, TNF G-308A, in sudden infant death syndrome (SIDS) infants, SIDS and control parents, and ethnic groups with different incidences of SIDS; (2) the effects of two risk factors for SIDS, cigarette smoke and virus infection, on TNF-a responses; and (3) to assess effects of genotype, cigarette smoke, and gender on TNF-a responses to bacterial toxins identified in SIDS infants. TNF G-308A genotypes were determined by real-time polymerase chain reaction for SIDS infants from Australia, Germany, and Hungary; parents of SIDS infants and their controls; and populations with high (Aboriginal Australian), medium (Caucasian), and low (Bangladeshi) SIDS incidences. Leukocytes from Caucasian donors were stimulated in vitro with endotoxin or toxic shock syndrome toxin-1 (TSST-1). TNF-a responses were measured by L929 bioassay (IU/ml) and assessed in relation to genotype, smoking status, and gender. There was a significantly higher proportion of the minor allele AA genotype among Australian SIDS infants (6/24, 24%) compared to 3/62 (4.8%) controls (p = 0.03). There were no significant differences in TNF-a responses by TNF G-308A genotypes when assessed in relation to smoking status or gender. Given the rarity of the TNF G-308A A allele in Caucasian populations, the finding that 24% of the Australian SIDS infants tested had this genotype requires further investigation and cautious interpretation. Although non-smokers with the AA genotype had higher TNFa responses to both TSST-1 and endotoxin, there were too few subjects with this rare allele to obtain statistically valid results. No effects of genotype, smoking, or gender were observed for TNF-a responses to these toxins.

DOI 10.3389/fimmu.2015.00374
Citations Scopus - 3Web of Science - 3
Co-authors Sharron Hall, Caroline Blackwell, Maree Gleeson
2015 Cheng THT, Thompson D, Painter J, O'Mara T, Gorman M, Martin L, et al., 'Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1.', Sci Rep, 5 17369 (2015) [C1]
DOI 10.1038/srep17369
Citations Scopus - 2Web of Science - 2
Co-authors Liz Holliday, John Attia, Mark Mcevoy
2015 Carvajal-Carmona LG, O Mara TA, Painter JN, Lose FA, Dennis J, Michailidou K, et al., 'Candidate locus analysis of the TERT¿CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk', Human Genetics, 134 231-245 (2015) [C1]

© 2014, The Author(s).Several studies have reported associations between multiple cancer types and single-nucleotide polymorphisms (SNPs) on chromosome 5p15, which harbours TERT ... [more]

© 2014, The Author(s).Several studies have reported associations between multiple cancer types and single-nucleotide polymorphisms (SNPs) on chromosome 5p15, which harbours TERT and CLPTM1L, but no such association has been reported with endometrial cancer. To evaluate the role of genetic variants at the TERT¿CLPTM1L region in endometrial cancer risk, we carried out comprehensive fine-mapping analyses of genotyped and imputed SNPs using a custom Illumina iSelect array which includes dense SNP coverage of this region. We examined 396 SNPs (113 genotyped, 283 imputed) in 4,401 endometrial cancer cases and 28,758 controls. Single-SNP and forward/backward logistic regression models suggested evidence for three variants independently associated with endometrial cancer risk (P¿=¿4.9¿×¿10-6 to P¿=¿7.7¿×¿10-5). Only one falls into a haplotype previously associated with other cancer types (rs7705526, in TERT intron 1), and this SNP has been shown to alter TERT promoter activity. One of the novel associations (rs13174814) maps to a second region in the TERT promoter and the other (rs62329728) is in the promoter region of CLPTM1L; neither are correlated with previously reported cancer-associated SNPs. Using TCGA RNASeq data, we found significantly increased expression of both TERT and CLPTM1L in endometrial cancer tissue compared with normal tissue (TERTP¿=¿1.5¿×¿10-18, CLPTM1LP¿=¿1.5¿×¿10-19). Our study thus reports a novel endometrial cancer risk locus and expands the spectrum of cancer types associated with genetic variation at 5p15, further highlighting the importance of this region for cancer susceptibility.

DOI 10.1007/s00439-014-1515-4
Citations Scopus - 10Web of Science - 11
2015 Moscovis SM, Cox A, Hall ST, Burns CJ, Scott RJ, Blackwell CC, 'Effects of gender, cytokine gene polymorphisms and environmental factors on inflammatory responses', Innate Immunity, 21 523-530 (2015) [C1]

© The Author(s) 2014 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.Previous studies have indicated that cytokine gene polymorphisms of Indigenous Australians we... [more]

© The Author(s) 2014 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.Previous studies have indicated that cytokine gene polymorphisms of Indigenous Australians were predominantly associated with strong pro-inflammatory responses. We tested the hypothesis that cells of donors with genetic profiles of inflammatory cytokine single nucleotide polymorphisms (SNPs) similar to Indigenous Australians produce higher pro-inflammatory responses. PBMCs from 14 donors with genetic profiles for a high risk of strong pro-inflammatory responses and 14 with low-risk profiles were stimulated with endotoxin and effects of gender, IFN-¿, cigarette smoke extract (CSE) and testosterone on cytokine responses analysed. Cytokines were calculated from standard curves (Luminex 2.3 software). No significant differences were associated with SNP profile alone. Lower pro-inflammatory responses were observed for cells from males with low- or high-risk profiles. For cells from females with high-risk profiles, anti-inflammatory IL-10 responses were significantly reduced. There was no effect of testosterone levels on responses from males. For females, results from IFN-¿-treated cells showed positive correlations between testosterone levels and IL-1ß responses to endotoxin for both risk groups and TNF-a for the high-risk group. If interactions observed among CSE, IFN-¿, genetic background and testosterone reflect those in vivo, these might contribute to increased incidences of hospitalisations for infectious diseases among Indigenous women.

DOI 10.1177/1753425914553645
Citations Scopus - 2Web of Science - 2
Co-authors Sharron Hall, Caroline Blackwell
2015 Greenop KR, Bailey HD, Miller M, Scott RJ, Attia J, Ashton LJ, et al., 'Breastfeeding and nutrition to 2 years of age and risk of childhood acute lymphoblastic leukemia and brain tumors', Nutrition and Cancer, 67 431-441 (2015) [C1]

© 2015 Taylor & Francis Group, LLC.Acute lymphoblastic leukemia (ALL) and childhood brain tumors (CBT) are 2 of the most common forms of childhood cancer, but little is known of ... [more]

© 2015 Taylor & Francis Group, LLC.Acute lymphoblastic leukemia (ALL) and childhood brain tumors (CBT) are 2 of the most common forms of childhood cancer, but little is known of their etiology. In 2 nationwide case-control studies we investigated whether breastfeeding, age of food introduction, or early diet are associated with the risk of these cancers. Cases aged 0-14 years were identified from Australian pediatric oncology units between 2003 and 2007 (ALL) and 2005 and 2010 (CBT) and population-based controls through nationwide random-digit dialing. Mothers completed questionnaires giving details of infant feeding up to the age of 2 yr. Data from 322 ALL cases, 679 ALL controls, 299 CBT cases, and 733 CBT controls were analysed using unconditional logistic regression. Breastfeeding was associated with a reduced risk of ALL [odds ratio (OR) = 0.52, 95% confidence interval (CI): 0.32, 0.84), regardless of duration. Introduction of artificial formula within 14 days of birth was positively associated with ALL (OR = 1.57, 95% CI: 1.03, 2.37), as was exclusive formula feeding to 6 mo (OR = 1.81, 95% CI: 1.07, 3.05). No associations were seen between breastfeeding or formula use and risk of CBT. Our results suggest that breastfeeding and delayed introduction of artificial formula may reduce the risk of ALL but not CBT.

DOI 10.1080/01635581.2015.998839
Citations Scopus - 7Web of Science - 7
Co-authors John Attia
2015 Wong-Brown MW, Meldrum CJ, Carpenter JE, Clarke CL, Narod SA, Jakubowska A, et al., 'Prevalence of BRCA1 and BRCA2 germline mutations in patients with triple-negative breast cancer', Breast Cancer Research and Treatment, 150 71-80 (2015) [C1]

© 2015, Springer Science+Business Media New York.Triple-negative breast cancers¿(TNBC) lack expression of oestrogen, progesterone and HER2 receptors. The gene expression profile... [more]

© 2015, Springer Science+Business Media New York.Triple-negative breast cancers¿(TNBC) lack expression of oestrogen, progesterone and HER2 receptors. The gene expression profiles of TNBCs are similar to those of breast tumours in women with BRCA1 mutations. Reports to date indicate that up to 20¿% of TNBC patients harbour germline BRCA mutations; however, the prevalence of BRCA mutations in TNBC patients varies widely between countries and from study to study. We studied 774 women with triple-negative breast cancer, diagnosed on average at age 58.0¿years. Samples of genomic DNA were provided by the Australian Breast Cancer Tissue Bank (ABCTB) (439 patients) and by the Department of Genetics and Pathology of the Pomeranian Medical University (335 patients). The entire coding regions and the exon¿intron boundaries of BRCA1 and BRCA2 were amplified and sequenced by next-generation sequencing. We identified a BRCA1 or BRCA2 mutation in 74 of 774 (9.6¿%) triple-negative patients. The mutation prevalence was 9.3¿% in Australia and was 9.9¿% in Poland. In both countries, the mean age of diagnoses of BRCA1 mutation carriers was significantly lower than that of non-carriers, while the age of onset of BRCA2 mutation carriers was similar to that of non-carriers. In the Australian cohort, 59¿% of the mutation-positive patients did not have a family history of breast or ovarian cancer, and would not have qualified for genetic testing. The triple-negative phenotype should be added as a criterion to genetic screening guidelines.

DOI 10.1007/s10549-015-3293-7
Citations Scopus - 29
Co-authors Michelle Wong-Brown
2015 Thompson ER, Gorringe KL, Rowley SM, Wong-Brown MW, McInerny S, Li N, et al., 'Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls', BREAST CANCER RESEARCH, 17 (2015) [C1]
DOI 10.1186/s13058-015-0627-7
Citations Scopus - 5Web of Science - 5
Co-authors Michelle Wong-Brown
2015 O'Brien AR, Saunders NFW, Guo Y, Buske FA, Scott RJ, Bauer DC, 'VariantSpark: population scale clustering of genotype information.', BMC Genomics, 16 1052 (2015) [C1]
DOI 10.1186/s12864-015-2269-7
Citations Scopus - 1Web of Science - 2
2015 Chan JPL, Thalamuthu A, Oldmeadow C, Armstrong NJ, Holliday EG, McEvoy M, et al., 'Genetics of hand grip strength in mid to late life', Age, 37 1-10 (2015) [C1]

© 2015, American Aging Association.Hand grip strength (GS) is a predictor of mortality in older adults and is moderately to highly heritable, but no genetic variants have been co... [more]

© 2015, American Aging Association.Hand grip strength (GS) is a predictor of mortality in older adults and is moderately to highly heritable, but no genetic variants have been consistently identified. We aimed to identify single nucleotide polymorphisms (SNPs) associated with GS in middle-aged to older adults using a genome-wide association study (GWAS). GS was measured using handheld dynamometry in community-dwelling men and women aged 55¿85 from the Hunter Community Study (HCS, N = 2088) and the Sydney Memory and Ageing Study (Sydney MAS, N = 541). Genotyping was undertaken using Affymetrix microarrays with imputation to HapMap2. Analyses were performed using linear regression. No genome-wide significant results were observed in HCS nor were any of the top signals replicated in Sydney MAS. Gene-based analyses in HCS identified two significant genes (ZNF295, C2CD2), but these results were not replicated in Sydney MAS. One out of eight SNPs previously associated with GS, rs550942, located near the CNTF gene, was significantly associated with GS (p = 0.005) in the HCS cohort only. Study differences may explain the lack of consistent results between the studies, including the smaller sample size of the Sydney MAS cohort. Our modest sample size also had limited power to identify variants of small effect. Our results suggest that similar to various other complex traits, many genetic variants of small effect size may influence GS. Future GWAS using larger samples and consistent measures may prove more fruitful at identifying genetic contributors for GS in middle-aged to older adults.

DOI 10.1007/s11357-015-9745-5
Citations Scopus - 1Web of Science - 2
Co-authors Liz Holliday, Christopher Oldmeadow, Mark Mcevoy, John Attia, Roseanne Peel
2015 Greenop KR, Scott RJ, Attia J, Bower C, de Klerk NH, Norris MD, et al., 'Folate Pathway Gene Polymorphisms and Risk of Childhood Brain Tumors: Results from an Australian Case-Control Study', CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION, 24 931-937 (2015) [C1]
DOI 10.1158/1055-9965.EPI-14-1248
Citations Scopus - 2Web of Science - 2
Co-authors John Attia
2015 Maltby VE, Graves MC, Lea RA, Benton MC, Sanders KA, Tajouri L, et al., 'Genome-wide DNA methylation profiling of CD8+T cells shows a distinct epigenetic signature to CD4+T cells in multiple sclerosis patients', CLINICAL EPIGENETICS, 7 (2015) [C1]
DOI 10.1186/s13148-015-0152-7
Citations Scopus - 12Web of Science - 11
Co-authors Jeannette Lechner-Scott, Vicki E Maltby
2015 Milne E, Greenop KR, Scott RJ, Haber M, Norris MD, Attia J, et al., 'Folate pathway gene polymorphisms, maternal folic acid use, and risk of childhood acute lymphoblastic leukemia', Cancer Epidemiology Biomarkers and Prevention, 24 48-56 (2015) [C1]

© 2014 American Association for Cancer Research.Background: Several studies suggest that maternal folic acid supplementation before or during pregnancy protects against childhood... [more]

© 2014 American Association for Cancer Research.Background: Several studies suggest that maternal folic acid supplementation before or during pregnancy protects against childhood acute lymphoblastic leukemia (ALL). We investigated associations between ALL risk and folate pathway gene polymorphisms, and their modification by maternal folic acid supplements, in a population-based case-control study (2003-2007). Methods: All Australian pediatric oncology centers provided cases; controls were recruited by national random digit dialing. Data from 392 cases and 535 controls were included. Seven folate pathway gene polymorphisms (MTHFR 677C>T, MTHFR 1298A>C, MTRR 66A>G, MTR 2756 A>G, MTR 5049 C>A, CBS 844 Ins68, and CBS 2199 T>C) were genotyped in children and their parents. Information on prepregnancy maternal folic acid supplement use was collected. ORs were estimated with unconditional logistic regression adjusted for frequency-matched variables and potential confounders. Case-parent trios were also analyzed. Results: There was some evidence of a reduced risk of ALL among children who had, or whose father had, the MTRR 66GG genotype: ORs 0.60 [95% confidence interval (CI) 0.39-0.91] and 0.64 (95% CI, 0.40-1.03), respectively. The ORs for paternal MTHFR 677CT and TT genotypes were 1.41 (95% CI, 1.02-1.93) and 1.81 (95% CI, 1.06-3.07). ORs varied little by maternal folic acid supplementation. Conclusions: Some folate pathway gene polymorphisms in the child or a parent may influence ALL risk. While biologically plausible, underlying mechanisms for these associations need further elucidation. Impact: Folate pathway polymorphisms may be related to risk of childhood ALL, but larger studies are needed for conclusive results.

DOI 10.1158/1055-9965.EPI-14-0680
Citations Scopus - 3Web of Science - 1
Co-authors John Attia
2015 Davies G, Armstrong N, Bis JC, Bressler J, Chouraki V, Giddaluru S, et al., 'Genetic contributions to variation in general cognitive function: A meta-analysis of genome-wide association studies in the CHARGE consortium (N=53 949)', Molecular Psychiatry, 20 183-192 (2015) [C1]

© 2015 Macmillan Publishers Limited.General cognitive function is substantially heritable across the human life course from adolescence to old age. We investigated the genetic co... [more]

© 2015 Macmillan Publishers Limited.General cognitive function is substantially heritable across the human life course from adolescence to old age. We investigated the genetic contribution to variation in this important, health- and well-being-related trait in middle-aged and older adults. We conducted a meta-analysis of genome-wide association studies of 31 cohorts (N=53 949) in which the participants had undertaken multiple, diverse cognitive tests. A general cognitive function phenotype was tested for, and created in each cohort by principal component analysis. We report 13 genome-wide significant single-nucleotide polymorphism (SNP) associations in three genomic regions, 6q16.1, 14q12 and 19q13.32 (best SNP and closest gene, respectively: rs10457441, P=3.93 × 10-9, MIR2113; rs17522122, P=2.55 × 10-8, AKAP6; rs10119, P=5.67 × 10-9, APOE/TOMM40). We report one gene-based significant association with the HMGN1 gene located on chromosome 21 (P=1 × 10-6). These genes have previously been associated with neuropsychiatric phenotypes. Meta-analysis results are consistent with a polygenic model of inheritance. To estimate SNP-based heritability, the genome-wide complex trait analysis procedure was applied to two large cohorts, the Atherosclerosis Risk in Communities Study (N=6617) and the Health and Retirement Study (N=5976). The proportion of phenotypic variation accounted for by all genotyped common SNPs was 29% (s.e.=5%) and 28% (s.e.=7%), respectively. Using polygenic prediction analysis, ~1.2% of the variance in general cognitive function was predicted in the Generation Scotland cohort (N=5487; P=1.5 × 10-17). In hypothesis-driven tests, there was significant association between general cognitive function and four genes previously associated with Alzheimer's disease: TOMM40, APOE, ABCG1 and MEF2C.

DOI 10.1038/mp.2014.188
Citations Scopus - 62Web of Science - 59
Co-authors Liz Holliday, John Attia, Christopher Oldmeadow, Peter Schofield
2015 Sapkota Y, Attia J, Gordon SD, Henders AK, Holliday EG, Rahmioglu N, et al., 'Genetic burden associated with varying degrees of disease severity in endometriosis', MOLECULAR HUMAN REPRODUCTION, 21 594-602 (2015) [C1]
DOI 10.1093/molehr/gav021
Citations Scopus - 7Web of Science - 7
Co-authors John Attia, Mark Mcevoy, Liz Holliday
2015 Greenop KR, Hinwood AL, Fritschi L, Scott RJ, Attia J, Ashton LJ, et al., 'Vehicle refuelling, use of domestic wood heaters and the risk of childhood brain tumours: Results from an Australian case-control study', Pediatric Blood and Cancer, 62 229-234 (2015) [C1]

© 2014 Wiley Periodicals, Inc.The aetiology of childhood brain tumours (CBT) is largely unknown. Damage to germ cells after parental exposure to airborne carcinogens, such as vol... [more]

© 2014 Wiley Periodicals, Inc.The aetiology of childhood brain tumours (CBT) is largely unknown. Damage to germ cells after parental exposure to airborne carcinogens, such as volatile organic compounds and polycyclic aromatic hydrocarbons is one plausible pathway. This analysis aimed to investigate whether parental refuelling of vehicles or the use of domestic wood heaters in key time periods relating to the child's birth was associated with an increased risk of CBT. Procedure: Cases <15 years of age were recruited through 10 paediatric oncology centres around Australia; controls were recruited through nationwide random-digit dialling, frequency matched to cases on age, sex and State of residence. Exposure to refuelling and wood heaters was ascertained through questionnaires from both parents. Odds ratios (ORs) and confidence intervals (CIs) were estimated using unconditional logistic regression, adjusting for relevant covariates. Results: Data were available for 306 case and 950 control families. Paternal refuelling =4times/month was associated with an increased risk of CBT (OR 1.59, 95% CI: 1.11, 2.29), and a dose-dependent trend was observed (P=0.004). No association was seen for maternal refuelling. Use of closed, but not open, wood heaters before (OR 1.51, 95% CI: 1.05, 2.15) and after (OR 1.44, 95% CI: 1.03, 2.01) the child's birth was associated with increased risk of CBT, but dose-response relationships were weak or absent. Conclusions: Paternal refuelling of vehicles =4times/month and the use of closed wood heaters before the child's birth may increase the risk of CBT. Replication in larger studies is needed.

DOI 10.1002/pbc.25268
Citations Scopus - 1
Co-authors John Attia
2015 Debniak T, Gromowski T, Scott RJ, Gronwald J, Huzarski T, Byrski T, et al., 'Management of ovarian and endometrial cancers in women belonging to HNPCC carrier families: review of the literature and results of cancer risk assessment in Polish HNPCC families', HEREDITARY CANCER IN CLINICAL PRACTICE, 13 (2015) [C1]
DOI 10.1186/s13053-015-0025-2
Citations Scopus - 4Web of Science - 4
2015 Mathe A, Scott RJ, Avery-Kiejda KA, 'MiRNAs and other epigenetic changes as biomarkers in triple negative breast cancer', International Journal of Molecular Sciences, 16 28347-28376 (2015) [C1]

© 2015 by the authors; licensee MDPI, Basel, Switzerland.Triple negative breast cancer (TNBC) is characterised by the lack of receptors for estrogen (ER), progesterone (PR), and ... [more]

© 2015 by the authors; licensee MDPI, Basel, Switzerland.Triple negative breast cancer (TNBC) is characterised by the lack of receptors for estrogen (ER), progesterone (PR), and human epidermal growth factor 2 (HER2). Since it cannot be treated by current endocrine therapies which target these receptors and due to its aggressive nature, it has one of the worst prognoses of all breast cancer subtypes. The only treatments remain chemo- and/or radio-therapy and surgery and because of this, novel biomarkers or treatment targets are urgently required to improve disease outcomes. MicroRNAs represent an attractive candidate for targeted therapies against TNBC, due to their natural ability to act as antisense interactors and regulators of entire gene sets involved in malignancy and their superiority over mRNA profiling to accurately classify disease. Here we review the current knowledge regarding miRNAs as biomarkers in TNBC and their potential use as therapeutic targets in this disease. Further, we review other epigenetic changes and interactions of these changes with microRNAs in this breast cancer subtype, which may lead to the discovery of new treatment targets for TNBC.

DOI 10.3390/ijms161226090
Citations Scopus - 9Web of Science - 8
Co-authors Kelly Kiejda
2015 Pan X, Bowman M, Scott RJ, Fitter J, Nicholson RC, Smith R, Zakar T, 'Methylation of the Corticotropin Releasing Hormone Gene Promoter in BeWo Cells: Relationship to Gene Activity', International Journal of Endocrinology, 2015 (2015) [C1]

© 2015 Xin Pan et al.Corticotropin releasing hormone (CRH) production by the human placenta increases exponentially as pregnancy advances, and the rate of increase predicts gesta... [more]

© 2015 Xin Pan et al.Corticotropin releasing hormone (CRH) production by the human placenta increases exponentially as pregnancy advances, and the rate of increase predicts gestational length. CRH gene expression is regulated by cAMP in trophoblasts through a cyclic AMP-response element (CRE), which changes its transcription factor binding properties upon methylation. Here we determined whether methylation of the CRH proximal promoter controls basal and cAMP-stimulated CRH expression in BeWo cells, a well-characterized trophoblastic cell line. We treated the cells with 8-Br-cAMP and the DNA methyltransferase inhibitor 5-aza-2' deoxycytidine (5-AZA-dC) and determined the effects on CRH mRNA level and promoter methylation. Clonal bisulfite sequencing showed partial and allele independent methylation of CpGs in the CRH promoter. CRH mRNA expression and the methylation of a subset of CpGs (including CpG2 in the CRE) increased spontaneously during culture. 8-Br-cAMP stimulated CRH expression without affecting the increase in methylation. 5-AZA-dC decreased methylation and augmented 8-Br-cAMP-stimulated CRH expression, but it blocked the spontaneous increase of CRH mRNA level. We conclude that the CRH promoter is a dynamically and intermediately methylated genomic region in BeWo cells. Promoter methylation did not inhibit CRH gene expression under the conditions employed; rather it determined the contribution of alternative cAMP-independent pathways and cAMP-independent mechanisms to CRH expression control.

DOI 10.1155/2015/861302
Citations Scopus - 1Web of Science - 1
Co-authors Roger Smith, Maria Bowman, John Fitter
2015 Kamien B, Digilio MC, Novelli A, O'Donnell S, Bain N, Meldrum C, et al., 'Narrowing the critical region for overgrowth within 13q14.2-q14.3 microdeletions', European Journal of Medical Genetics, 58 629-633 (2015) [C3]

© 2015 Published by Elsevier Masson SAS.Large chromosomal deletions from 13q13.3 to 13q21.3 have previously been associated with overgrowth. We present two patients with deletion... [more]

© 2015 Published by Elsevier Masson SAS.Large chromosomal deletions from 13q13.3 to 13q21.3 have previously been associated with overgrowth. We present two patients with deletions at 13q14.2q14.3 who have macrocephaly, tall stature relative to their parents, cardiac phenotypes, and intellectual disability. This report narrows the critical region for tall stature, macrocephaly, and possibly cardiac disease. Crown

DOI 10.1016/j.ejmg.2015.10.006
Citations Scopus - 2Web of Science - 1
Co-authors T Dudding
2015 Paszkowska-Szczur K, Scott RJ, Górski B, Cybulski C, Kurzawski G, Dymerska D, et al., 'Polymorphisms in nucleotide excision repair genes and susceptibility to colorectal cancer in the Polish population', Molecular Biology Reports, 42 755-764 (2015) [C1]

© 2014, The Author(s).Xeroderma pigmentosum (XP) is a rare autosomal recessive disease that is associated with a severe deficiency in nucleotide excision repair. Genetic polymorp... [more]

© 2014, The Author(s).Xeroderma pigmentosum (XP) is a rare autosomal recessive disease that is associated with a severe deficiency in nucleotide excision repair. Genetic polymorphisms in XP genes may be associated with a change in DNA repair capacity, which could be associated with colorectal cancer development. We assessed the association between 94 single nucleotide polymorphisms (SNPs) within seven XP genes (XPA¿XPG) and the colorectal cancer risk in the Polish population. We genotyped 758 unselected patients with colorectal cancer and 1,841 healthy adults. We found that a significantly decreased risk of colorectal cancer was associated with XPC polymorphism rs2228000_CT genotype (OR 0.59; p¿<¿0.0001) and the rs2228000_TT genotype (OR 0.29; p¿<¿0.0001) compared to the reference genotype (CC). And an increased disease risk was associated with the XPD SNP, rs1799793_AG genotype (OR 1.44, p¿=¿0.018) and rs1799793_AA genotype (OR 3.31, p¿<¿0.0001) compared to the reference genotype. Haplotype analysis within XPC, XPD and XPG revealed haplotypes associated with an altered colorectal cancer risk. Stratified analysis by gender showed differences between the association of three SNPs: XPC rs2228000, XPD rs1799793 and XPD rs238406 in females and males. Association analysis between age of disease onset and polymorphisms in XPD (rs1799793) and XPC (rs2228000) revealed differences in the prevalence of these variants in patients under and over 50¿years of age. Our results confirmed that polymorphisms in XPC and XPD may be associated with the risk of colorectal cancer.

DOI 10.1007/s11033-014-3824-z
Citations Scopus - 10Web of Science - 7
2015 Lener M, Muszynska M, Jakubowska A, Jaworska-Bieniek K, Sukiennicki G, Kaczmarek K, et al., 'Selenium as a marker of cancer risk and of selection for control examinations in surveillance', Wspolczesna Onkologia, 1A A60-A61 (2015)

Publication is summarization of existing data being results of literature review and our experience on usefulness of selenium as a diagnostic marker selection for control examinat... [more]

Publication is summarization of existing data being results of literature review and our experience on usefulness of selenium as a diagnostic marker selection for control examinations in surveillance and as a marker of patients with high risk of cancers.

DOI 10.5114/wo.2014.47131
2015 Lubinski J, Scott RJ, Sijmons R, Bayliss K, 'Thank you to all our manuscript reviewers in 2014', Hereditary Cancer in Clinical Practice, 1-2 (2015) [O1]

© 2015 Lubinski et al.; licensee BioMed Central.The editors of Hereditary Cancer in Clinical Practice would like to thank all our reviewers who have contributed to the journal in... [more]

© 2015 Lubinski et al.; licensee BioMed Central.The editors of Hereditary Cancer in Clinical Practice would like to thank all our reviewers who have contributed to the journal in 2014. Without the participation of skilful reviewers, no academic journal could succeed, and we are grateful to the committed individuals who have given their time and expertise to the peer review of manuscripts for Hereditary Cancer in Clinical Practice. We look forward to your continued support in 2015.

DOI 10.1186/s13053-015-0029-y
2015 Peyrot WJ, Lee SH, Milaneschi Y, Abdellaoui A, Byrne EM, Esko T, et al., 'The association between lower educational attainment and depression owing to shared genetic effects? Results in ~25 000 subjects', Molecular Psychiatry, 20 735-743 (2015)

An association between lower educational attainment (EA) and an increased risk for depression has been confirmed in various western countries. This study examines whether pleiotro... [more]

An association between lower educational attainment (EA) and an increased risk for depression has been confirmed in various western countries. This study examines whether pleiotropic genetic effects contribute to this association. Therefore, data were analyzed from a total of 9662 major depressive disorder (MDD) cases and 14 949 controls (with no lifetime MDD diagnosis) from the Psychiatric Genomics Consortium with additional Dutch and Estonian data. The association of EA and MDD was assessed with logistic regression in 15 138 individuals indicating a significantly negative association in our sample with an odds ratio for MDD 0.78 (0.75-0.82) per standard deviation increase in EA. With data of 884 105 autosomal common single-nucleotide polymorphisms (SNPs), three methods were applied to test for pleiotropy between MDD and EA: (i) genetic profile risk scores (GPRS) derived from training data for EA (independent meta-analysis on ~120 000 subjects) and MDD (using a 10-fold leave-one-out procedure in the current sample), (ii) bivariate genomic-relationship-matrix restricted maximum likelihood (GREML) and (iii) SNP effect concordance analysis (SECA). With these methods, we found (i) that the EA-GPRS did not predict MDD status, and MDD-GPRS did not predict EA, (ii) a weak negative genetic correlation with bivariate GREML analyses, but this correlation was not consistently significant, (iii) no evidence for concordance of MDD and EA SNP effects with SECA analysis. To conclude, our study confirms an association of lower EA and MDD risk, but this association was not because of measurable pleiotropic genetic effects, which suggests that environmental factors could be involved, for example, socioeconomic status.

DOI 10.1038/mp.2015.50
Citations Scopus - 6
Co-authors John Attia, Liz Holliday
2015 Nead KT, Sharp SJ, Thompson DJ, Painter JN, Savage DB, Semple RK, et al., 'Evidence of a Causal Association Between Insulinemia and Endometrial Cancer: A Mendelian Randomization Analysis.', Journal of the National Cancer Institute, 107 (2015) [C1]
Citations Scopus - 24Web of Science - 11
Co-authors Mark Mcevoy, Liz Holliday, John Attia
2015 Bulik-Sullivan B, Loh PR, Finucane HK, Ripke S, Yang J, Patterson N, et al., 'LD score regression distinguishes confounding from polygenicity in genome-wide association studies', Nature Genetics, 47 291-295 (2015) [C1]

Both polygenicity (many small genetic effects) and confounding biases, such as cryptic relatedness and population stratification, can yield an inflated distribution of test statis... [more]

Both polygenicity (many small genetic effects) and confounding biases, such as cryptic relatedness and population stratification, can yield an inflated distribution of test statistics in genome-wide association studies (GWAS). However, current methods cannot distinguish between inflation from a true polygenic signal and bias. We have developed an approach, LD Score regression, that quantifies the contribution of each by examining the relationship between test statistics and linkage disequilibrium (LD). The LD Score regression intercept can be used to estimate a more powerful and accurate correction factor than genomic control. We find strong evidence that polygenicity accounts for the majority of the inflation in test statistics in many GWAS of large sample size.

DOI 10.1038/ng.3211
Citations Scopus - 160Web of Science - 159
Co-authors Pat Michie, Ulrich Schall, Paul Tooney, Carmel Loughland, Frans Henskens, Brian Kelly, Murray Cairns
2015 Sobral-Leite M, Wesseling J, Smit VTHBM, Nevanlinna H, van Miltenburg MH, Sanders J, et al., 'Annexin A1 expression in a pooled breast cancer series: Association with tumor subtypes and prognosis', BMC Medicine, 13 (2015)

© 2015 Sobral-Leite et al.Background: Annexin A1 (ANXA1) is a protein related with the carcinogenesis process and metastasis formation in many tumors. However, little is known ab... [more]

© 2015 Sobral-Leite et al.Background: Annexin A1 (ANXA1) is a protein related with the carcinogenesis process and metastasis formation in many tumors. However, little is known about the prognostic value of ANXA1 in breast cancer. The purpose of this study is to evaluate the association between ANXA1 expression, BRCA1/2 germline carriership, specific tumor subtypes and survival in breast cancer patients. Methods: Clinical-pathological information and follow-up data were collected from nine breast cancer studies from the Breast Cancer Association Consortium (BCAC) (n = 5,752) and from one study of familial breast cancer patients with BRCA1/2 mutations (n = 107). ANXA1 expression was scored based on the percentage of immunohistochemical staining in tumor cells. Survival analyses were performed using a multivariable Cox model. Results: The frequency of ANXA1 positive tumors was higher in familial breast cancer patients with BRCA1/2 mutations than in BCAC patients, with 48.6% versus 12.4 %, respectively; P <0.0001. ANXA1 was also highly expressed in BCAC tumors that were poorly differentiated, triple negative, EGFR-CK5/6 positive or had developed in patients at a young age. In the first 5 years of follow-up, patients with ANXA1 positive tumors had a worse breast cancer-specific survival (BCSS) than ANXA1 negative (HRadj = 1.35; 95 % CI = 1.05-1.73), but the association weakened after 10 years (HRadj = 1.13; 95 % CI = 0.91-1.40). ANXA1 was a significant independent predictor of survival in HER2+ patients (10-years BCSS: HRadj = 1.70; 95 % CI = 1.17-2.45). Conclusions: ANXA1 is overexpressed in familial breast cancer patients with BRCA1/2 mutations and correlated with poor prognosis features: triple negative and poorly differentiated tumors. ANXA1 might be a biomarker candidate for breast cancer survival prediction in high risk groups such as HER2+ cases.

DOI 10.1186/s12916-015-0392-6
Citations Scopus - 9
2015 Bergon A, Belzeaux R, Comte M, Pelletier F, Hervé M, Gardiner EJ, et al., 'CX3CR1 is dysregulated in blood and brain from schizophrenia patients', Schizophrenia Research, 168 434-443 (2015) [C1]

© 2015 Elsevier B.V.The molecular mechanisms underlying schizophrenia remain largely unknown. Although schizophrenia is a mental disorder, there is increasing evidence to indicat... [more]

© 2015 Elsevier B.V.The molecular mechanisms underlying schizophrenia remain largely unknown. Although schizophrenia is a mental disorder, there is increasing evidence to indicate that inflammatory processes driven by diverse environmental factors play a significant role in its development. With gene expression studies having been conducted across a variety of sample types, e.g., blood and postmortem brain, it is possible to investigate convergent signatures that may reveal interactions between the immune and nervous systems in schizophrenia pathophysiology. We conducted two meta-analyses of schizophrenia microarray gene expression data (N= 474) and non-psychiatric control (N= 485) data from postmortem brain and blood. Then, we assessed whether significantly dysregulated genes in schizophrenia could be shared between blood and brain. To validate our findings, we selected a top gene candidate and analyzed its expression by RT-qPCR in a cohort of schizophrenia subjects stabilized by atypical antipsychotic monotherapy (N= 29) and matched controls (N= 31). Meta-analyses highlighted inflammation as the major biological process associated with schizophrenia and that the chemokine receptor CX3CR1 was significantly down-regulated in schizophrenia. This differential expression was also confirmed in our validation cohort. Given both the recent data demonstrating selective CX3CR1 expression in subsets of neuroimmune cells, as well as behavioral and neuropathological observations of CX3CR1 deficiency in mouse models, our results of reduced CX3CR1 expression adds further support for a role played by monocyte/microglia in the neurodevelopment of schizophrenia.

DOI 10.1016/j.schres.2015.08.010
Citations Scopus - 5Web of Science - 6
Co-authors Murray Cairns, Paul Tooney, Brian Kelly, Ulrich Schall
2015 Green MJ, Raudino A, Cairns MJ, Wu J, Tooney PA, Scott RJ, Carr VJ, 'Do common genotypes of FK506 binding protein 5 (FKBP5) moderate the effects of childhood maltreatment on cognition in schizophrenia and healthy controls?', Journal of Psychiatric Research, 70 9-17 (2015) [C1]

© 2015.Common variants of the FK506 binding protein 5 (FKBP5) gene are implicated in psychotic and other disorders, via their role in regulating glucocorticoid receptor (GR) rece... [more]

© 2015.Common variants of the FK506 binding protein 5 (FKBP5) gene are implicated in psychotic and other disorders, via their role in regulating glucocorticoid receptor (GR) receptor sensitivity and effects on the broader function of the HPA system in response to stress. In this study, the effects of four FKBP5 polymorphisms (rs1360780, rs9470080, rs4713902, rs9394309) on IQ and eight other cognitive domains were examined in the context of exposure to childhood maltreatment in 444 cases with schizophrenia and 292 healthy controls (from a total sample of 617 cases and 659 controls obtained from the Australian Schizophrenia Research Bank; ASRB). Participants subjected to any kind of maltreatment (including physical, emotional, or sexual abuse or physical or emotional neglect) in childhood were classified as 'exposed'; cognitive functioning was measured with Repeatable Battery for the Assessment of Neuropsychological Status, the Controlled Oral Word Association Test, and IQ was estimated with the Weschler Test of Adult Reading. Hierarchical regressions were used to test the main effects of genotype and childhood maltreatment, and their additive interactive effects, on cognitive function. For rs1360870, there were significant main effects of genotype and childhood maltreatment, and a significant interaction of genotype with childhood trauma affecting attention in both schizophrenia and healthy participants (C-homozygotes in both groups showed worse attention in the context of maltreatment); in SZ, this SNP also affected global neuropsychological function regardless of exposure to childhood trauma, with T-homozygotes showing worse cognition than other genotypes. The mechanisms of trauma-dependent effects of FKBP5 following early life trauma deserve further exploration in healthy and psychotic samples, in the context of epigenetic effects and perhaps epistasis with other genes. Study of these processes may be particularly informative in subgroups exposed to various other forms of early life adversity (i.e., birth complications, immigration).

DOI 10.1016/j.jpsychires.2015.07.019
Citations Scopus - 2Web of Science - 2
Co-authors Paul Tooney, Murray Cairns
2015 Abdullah N, Abdul Murad NA, Attia J, Oldmeadow C, Mohd Haniff EA, Syafruddin SE, et al., 'Characterizing the genetic risk for Type 2 diabetes in a Malaysian multi-ethnic cohort.', Diabet Med, 32 1377-1384 (2015) [C1]
DOI 10.1111/dme.12735
Citations Scopus - 1
Co-authors John Attia, Liz Holliday, Christopher Oldmeadow
2015 Darabi H, McCue K, Beesley J, Michailidou K, Nord S, Kar S, et al., 'Polymorphisms in a Putative Enhancer at the 10q21.2 Breast Cancer Risk Locus Regulate NRBF2 Expression', American Journal of Human Genetics, (2015) [C1]

Genome-wide association studies have identified SNPs near ZNF365 at 10q21.2 that are associated with both breast cancer risk and mammographic density. To identify the most likely ... [more]

Genome-wide association studies have identified SNPs near ZNF365 at 10q21.2 that are associated with both breast cancer risk and mammographic density. To identify the most likely causal SNPs, we fine mapped the association signal by genotyping 428 SNPs across the region in 89,050 European and 12,893 Asian case and control subjects from the Breast Cancer Association Consortium. We identified four independent sets of correlated, highly trait-associated variants (iCHAVs), three of which were located within ZNF365. The most strongly risk-associated SNP, rs10995201 in iCHAV1, showed clear evidence of association with both estrogen receptor (ER)-positive (OR = 0.85 [0.82-0.88]) and ER-negative (OR = 0.87 [0.82-0.91]) disease, and was also the SNP most strongly associated with percent mammographic density. iCHAV2 (lead SNP, chr10: 64,258,684:D) and iCHAV3 (lead SNP, rs7922449) were also associated with ER-positive (OR = 0.93 [0.91-0.95] and OR = 1.06 [1.03-1.09]) and ER-negative (OR = 0.95 [0.91-0.98] and OR = 1.08 [1.04-1.13]) disease. There was weaker evidence for iCHAV4, located 5' of ADO, associated only with ER-positive breast cancer (OR = 0.93 [0.90-0.96]). We found 12, 17, 18, and 2 candidate causal SNPs for breast cancer in iCHAVs 1-4, respectively. Chromosome conformation capture analysis showed that iCHAV2 interacts with the ZNF365 and NRBF2 (more than 600 kb away) promoters in normal and cancerous breast epithelial cells. Luciferase assays did not identify SNPs that affect transactivation of ZNF365, but identified a protective haplotype in iCHAV2, associated with silencing of the NRBF2 promoter, implicating this gene in the etiology of breast cancer.

DOI 10.1016/j.ajhg.2015.05.002
Citations Scopus - 8Web of Science - 7
2015 Bowden NA, Beveridge NJ, Ashton KA, Baines KJ, Scott RJ, 'Understanding xeroderma pigmentosum complementation groups using gene expression profiling after UV-light exposure', International Journal of Molecular Sciences, 16 15985-15996 (2015) [C1]

© 2015 by the authors; licensee MDPI, Basel, Switzerland.Children with the recessive genetic disorder Xeroderma Pigmentosum (XP) have extreme sensitivity to UV-light, a 10,000-fo... [more]

© 2015 by the authors; licensee MDPI, Basel, Switzerland.Children with the recessive genetic disorder Xeroderma Pigmentosum (XP) have extreme sensitivity to UV-light, a 10,000-fold increase in skin cancers from age 2 and rarely live beyond 30 years. There are seven genetic subgroups of XP, which are all resultant of pathogenic mutations in genes in the nucleotide excision repair (NER) pathway and a XP variant resultant of a mutation in translesion synthesis, POLH. The clinical symptoms and severity of the disease is varied across the subgroups, which does not correlate with the functional position of the affected protein in the NER pathway. The aim of this study was to further understand the biology of XP subgroups, particularly those that manifest with neurological symptoms. Whole genome gene expression profiling of fibroblasts from each XP complementation group was assessed before and after UV-light exposure. The biological pathways with altered gene expression after UV-light exposure were distinct for each subtype and contained oncogenic related functions such as perturbation of cell cycle, apoptosis, proliferation and differentiation. Patients from the subgroups XP-B and XP-F were the only subgroups to have transcripts associated with neuronal activity altered after UV-light exposure. This study will assist in furthering our understanding of the different subtypes of XP which will lead to better diagnosis, treatment and management of the disease.

DOI 10.3390/ijms160715985
Citations Scopus - 3Web of Science - 3
Co-authors Katherine Baines, Nikola Bowden
2015 Serrano-Fernandez P, Dymerska D, Kurzawski G, Derkacz R, Sobieszczanska T, Banaszkiewicz Z, et al., 'Cumulative Small Effect Genetic Markers and the Risk of Colorectal Cancer in Poland, Estonia, Lithuania, and Latvia', GASTROENTEROLOGY RESEARCH AND PRACTICE, (2015) [C1]
DOI 10.1155/2015/204089
Citations Scopus - 3
2015 Blackwell C, Moscovis S, Hall S, Burns C, Scott RJ, 'Exploring the risk factors for sudden infant deaths and their role in inflammatory responses to infection', Frontiers in Immunology, 6 (2015) [C1]

© 2015 Blackwell, Moscovis, Hall, Burns and Scott.The risk factors for sudden infant death syndrome (SIDS) parallel those associated with susceptibility to or severity of infecti... [more]

© 2015 Blackwell, Moscovis, Hall, Burns and Scott.The risk factors for sudden infant death syndrome (SIDS) parallel those associated with susceptibility to or severity of infectious diseases. There is no evidence that a single infectious agent is associated with SIDS; the common thread appears to be induction of inflammatory responses to infections. In this review, interactions between genetic and environmental risk factors for SIDS are assessed in relation to the hypothesis that many infant deaths result from dysregulation of inflammatory responses to "minor" infections. Risk factors are assessed in relation to three important stages of infection: (1) bacterial colonization (frequency or density); (2) induction of temperature-dependent toxins; (3) induction or control of inflammatory responses. In this article, we review the interactions among risk factors for SIDS for their effects on induction or control of inflammatory responses. The risk factors studied are genetic factors (sex, cytokine gene polymorphisms among ethnic groups at high or low risk of SIDS); developmental stage (changes in cortisol and testosterone levels associated with 2- to 4-month age range); environmental factors (virus infection, exposure to cigarette smoke). These interactions help to explain differences in the incidences of SIDS observed between ethnic groups prior to public health campaigns to reduce these infant deaths.

DOI 10.3389/fimmu.2015.00044
Citations Scopus - 4Web of Science - 3
Co-authors Sharron Hall, Caroline Blackwell
2015 Mavaddat N, Pharoah PDP, Michailidou K, Tyrer J, Brook MN, Bolla MK, et al., 'Prediction of breast cancer risk based on profiling with common genetic variants', Journal of the National Cancer Institute, 107 (2015) [C1]

© 2015 © The Author 2015. Published by Oxford University Press.Background: Data for multiple common susceptibility alleles for breast cancer may be combined to identify women at... [more]

© 2015 © The Author 2015. Published by Oxford University Press.Background: Data for multiple common susceptibility alleles for breast cancer may be combined to identify women at different levels of breast cancer risk. Such stratification could guide preventive and screening strategies. However, empirical evidence for genetic risk stratification is lacking. Methods: We investigated the value of using 77 breast cancer-associated single nucleotide polymorphisms (SNPs) for risk stratification, in a study of 33 673 breast cancer cases and 33 381 control women of European origin. We tested all possible pair-wise multiplicative interactions and constructed a 77-SNP polygenic risk score (PRS) for breast cancer overall and by estrogen receptor (ER) status. Absolute risks of breast cancer by PRS were derived from relative risk estimates and UK incidence and mortality rates. Results: There was no strong evidence for departure from a multiplicative model for any SNP pair. Women in the highest 1% of the PRS had a three-fold increased risk of developing breast cancer compared with women in the middle quintile (odds ratio [OR] = 3.36, 95% confidence interval [CI] = 2.95 to 3.83). The ORs for ER-positive and ER-negative disease were 3.73 (95% CI = 3.24 to 4.30) and 2.80 (95% CI = 2.26 to 3.46), respectively. Lifetime risk of breast cancer for women in the lowest and highest quintiles of the PRS were 5.2% and 16.6% for a woman without family history, and 8.6% and 24.4% for a woman with a first-degree family history of breast cancer. Conclusions: The PRS stratifies breast cancer risk in women both with and without a family history of breast cancer. The observed level of risk discrimination could inform targeted screening and prevention strategies. Further discrimination may be achievable through combining the PRS with lifestyle/environmental factors, although these were not considered in this report.

DOI 10.1093/jnci/djv036
Citations Scopus - 70Web of Science - 43
2015 Movahedi M, Bishop DT, Macrae F, Mecklin JP, Moeslein G, Olschwang S, et al., 'Obesity, aspirin, and risk of colorectal cancer in carriers of hereditary colorectal cancer: A prospective investigation in the CAPP2 study', Journal of Clinical Oncology, 33 3591-3597 (2015) [C1]

© 2015 American Society of Clinical Oncology. All rights reserved.Purpose: In the general population, increased adiposity is a significant risk factor for colorectal cancer (CRC)... [more]

© 2015 American Society of Clinical Oncology. All rights reserved.Purpose: In the general population, increased adiposity is a significant risk factor for colorectal cancer (CRC), but whether obesity has similar effects in those with hereditary CRC is uncertain. This prospective study investigated the association between body mass index and cancer risk in patients with Lynch syndrome (LS). Patients and Methods: Participants with LS were recruited to the CAPP2 study, in which they were randomly assigned to receive aspirin 600 mg per day or aspirin placebo, plus resistant starch 30 g per day or starch placebo (2×2 factorial design). Mean intervention period was 25.0 months, and mean follow-up was 55.7 months. Results: During follow-up, 55 of 937 participants developed CRC. For obese participants, CRC risk was 2.41 X (95% CI, 1.22 to 4.85) greater than for underweight and normal-weight participants (reference group), and CRC risk increased by 7% for each 1-kg/m2 increase in body mass index. The risk of all LS-related cancers in obese people was 1.77× (95% CI, 1.06 to 2.96; P = .03) greater than for the reference group. In subgroup analysis, obesity was associated with 3.72× (95% CI, 1.41 to 9.81) greater CRC risk in patients with LS with MLH1 mutation, but no excess risk was observed in those with MSH2 or MSH6 mutation (P = .5). The obesity-related excess CRC risk was confined to those randomly assigned to the aspirin placebo group (adjusted hazard ratio, 2.75; 95% CI, 1.12 to 6.79; P = .03). Conclusion: Obesity is associated with substantially increased CRC risk in patients with LS, but this risk is abrogated in those taking aspirin. Such patients are likely to benefit from obesity prevention and/or regular aspirin.

DOI 10.1200/JCO.2014.58.9952
Citations Scopus - 11Web of Science - 7
2015 Debette S, Ibrahim Verbaas CA, Bressler J, Schuur M, Smith A, Bis JC, et al., 'Genome-wide studies of verbal declarative memory in nondemented older people: The Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium', Biological Psychiatry, 77 749-763 (2015) [C1]

© 2015 Society of Biological Psychiatry.BACKGROUND: Memory performance in older persons can reflect genetic influences on cognitive function and dementing processes. We aimed to ... [more]

© 2015 Society of Biological Psychiatry.BACKGROUND: Memory performance in older persons can reflect genetic influences on cognitive function and dementing processes. We aimed to identify genetic contributions to verbal declarative memory in a community setting. METHODS: We conducted genome-wide association studies for paragraph or word list delayed recall in 19 cohorts from the Cohorts for Heart and Aging Research in Genomic Epidemiology consortium, comprising 29,076 dementia- and stroke-free individuals of European descent, aged =45 years. Replication of suggestive associations (p < 5 × 10-6) was sought in 10,617 participants of European descent, 3811 African-Americans, and 1561 young adults. RESULTS: rs4420638, near APOE, was associated with poorer delayed recall performance in discovery (p = 5.57 × 10-10) and replication cohorts (p = 5.65 × 10-8). This association was stronger for paragraph than word list delayed recall and in the oldest persons. Two associations with specific tests, in subsets of the total sample, reached genome-wide significance in combined analyses of discovery and replication (rs11074779 [HS3ST4], p = 3.11 × 10-8, and rs6813517 [SPOCK3], p = 2.58 × 10-8) near genes involved in immune response. A genetic score combining 58 independent suggestive memory risk variants was associated with increasing Alzheimer disease pathology in 725 autopsy samples. Association of memory risk loci with gene expression in 138 human hippocampus samples showed cis-associations with WDR48 and CLDN5, both related to ubiquitin metabolism. CONCLUSIONS: This largest study to date exploring the genetics of memory function in ~40,000 older individuals revealed genome-wide associations and suggested an involvement of immune and ubiquitin pathways.

DOI 10.1016/j.biopsych.2014.08.027
Citations Scopus - 13Web of Science - 8
Co-authors John Attia, Peter Schofield, Mark Mcevoy, Christopher Oldmeadow, Liz Holliday
2015 Greenop KR, Miller M, Bailey HD, Scott RJ, Attia J, Bower C, et al., 'Paternal dietary folate, B6 and B12 intake, and the risk of childhood brain tumors', Nutrition and Cancer, 67 224-230 (2015) [C1]

© 2015, Taylor & Francis Group, LLC.It is biologically plausible that a paternal preconception diet low in nutrients related to DNA integrity could affect sperm DNA and subsequen... [more]

© 2015, Taylor & Francis Group, LLC.It is biologically plausible that a paternal preconception diet low in nutrients related to DNA integrity could affect sperm DNA and subsequently risk of cancer in the offspring. The aim of this analysis was to investigate whether paternal preconception dietary folate, B6, or B12 intake was associated with the risk of childhood brain tumors (CBT) in an Australian case-control study. Cases <15 years of age were recruited from 10 Australian pediatric oncology centers between 2005 and 2010, and controls from random-digit dialing, frequency-matched to cases on age, sex, and state of residence. Paternal dietary information was obtained by food-frequency questionnaires. Nutrient values were energy adjusted and divided into tertiles for analysis by unconditional logistic regression. In fathers with relevant data (237 cases and 629 controls), no association with dietary folate and B6 and risk of CBT was seen; high B12 intake was associated with an increased risk of CBT (odds ratio highest vs. lowest tertile: 1.74, 95% confidence interval: 1.14, 2.66) without an increasing trend. These results do not support the hypothesis that paternal dietary folate intake influences the risk of CBT. The increased OR observed between dietary B12 intake and risk of CBT is without any certain explanation.

DOI 10.1080/01635581.2015.990571
Citations Scopus - 1Web of Science - 1
Co-authors John Attia
2015 Pundavela J, Roselli S, Faulkner S, Attia J, Scott RJ, Thorne RF, et al., 'Nerve fibers infiltrate the tumor microenvironment and are associated with nerve growth factor production and lymph node invasion in breast cancer', Molecular Oncology, 9 1626-1635 (2015) [C1]
DOI 10.1016/j.molonc.2015.05.001
Citations Scopus - 3Web of Science - 2
Co-authors John Forbes, John Attia, Phillip Jobling, Rick Thorne, Hubert Hondermarck, Marjorie Walker
2015 Garrison JR, Fernyhough C, McCarthy-Jones S, Haggard M, Carr V, Schall U, et al., 'Paracingulate sulcus morphology is associated with hallucinations in the human brain', Nature Communications, 6 (2015) [C1]
DOI 10.1038/ncomms9956
Citations Scopus - 8
Co-authors Frans Henskens, Carmel Loughland, Pat Michie, Ulrich Schall
2015 Moir-Meyer GL, Pearson JF, Lose F, The ANECSG, Scott RJ, McEvoy M, et al., 'Rare germline copy number deletions of likely functional importance are implicated in endometrial cancer predisposition', Human Genetics, 134 269-278 (2015) [C1]

© 2014, Springer-Verlag Berlin Heidelberg.Endometrial cancer is the most common invasive gynaecological cancer in women, and relatively little is known about inherited risk facto... [more]

© 2014, Springer-Verlag Berlin Heidelberg.Endometrial cancer is the most common invasive gynaecological cancer in women, and relatively little is known about inherited risk factors for this disease. This is the first genome-wide study to explore the role of common and rare germline copy number variants (CNVs) in predisposition to endometrial cancer. CNVs were called from germline DNA of 1,209 endometrioid endometrial cancer cases and 528 cancer-unaffected female controls. Overall CNV load of deletions or DNA gains did not differ significantly between cases and controls (P¿>¿0.05), but cases presented with an excess of rare germline deletions overlapping likely functional genomic regions including genes (P¿=¿8¿×¿10-10), CpG islands (P¿=¿1¿×¿10-7) and sno/miRNAs regions (P¿=¿3¿×¿10-9). On average, at least one additional gene and two additional CpG islands were disrupted by rare deletions in cases compared to controls. The most pronounced difference was that over 30 sno/miRNAs were disrupted by rare deletions in cases for every single disruption event in controls. A total of 13 DNA repair genes were disrupted by rare deletions in 19/1,209 cases (1.6¿%) compared to one gene in 1/528 controls (0.2¿%; P¿=¿0.007), and this increased DNA repair gene loss in cases persisted after excluding five individuals carrying CNVs disrupting mismatch repair genes MLH1, MSH2 and MSH6 (P¿=¿0.03). There were 34 miRNA regions deleted in at least one case but not in controls, the most frequent of which encompassed hsa-mir-661 and hsa-mir-203. Our study implicates rare germline deletions of functional and regulatory regions as possible mechanisms conferring endometrial cancer risk, and has identified specific regulatory elements as candidates for further investigation.

DOI 10.1007/s00439-014-1507-4
Citations Scopus - 2Web of Science - 2
Co-authors Mark Mcevoy, Liz Holliday, John Attia
2015 Mathe A, Wong-Brown M, Morten B, Forbes JF, Braye SG, Avery-Kiejda KA, Scott RJ, 'Novel genes associated with lymph node metastasis in triple negative breast cancer', Scientific Reports, 5 (2015) [C1]

Triple negative breast cancer (TNBC) is the most aggressive breast cancer subtype with the worst prognosis and no targeted treatments. TNBC patients are more likely to develop met... [more]

Triple negative breast cancer (TNBC) is the most aggressive breast cancer subtype with the worst prognosis and no targeted treatments. TNBC patients are more likely to develop metastases and relapse than patients with other breast cancer subtypes. We aimed to identify TNBC-specific genes and genes associated with lymph node metastasis, one of the first signs of metastatic spread. A total of 33 TNBCs were used; 17 of which had matched normal adjacent tissues available, and 15 with matched lymph node metastases. Gene expression microarray analysis was used to reveal genes that were differentially expressed between these groups. We identified and validated 66 genes that are significantly altered when comparing tumours to normal adjacent samples. Further, we identified 83 genes that are associated with lymph node metastasis and correlated these with miRNA-expression. Pathway analysis revealed their involvement in DNA repair, recombination and cell death, chromosomal instability and other known cancer-related pathways. Finally, four genes were identified that were specific for TNBC, of which one was associated with overall survival. This study has identified novel genes involved in LN metastases in TNBC and genes that are TNBC specific that may be used as treatment targets or prognostic indicators in the future.

DOI 10.1038/srep15832
Citations Scopus - 2Web of Science - 3
Co-authors John Forbes, Michelle Wong-Brown, Kelly Kiejda
2015 Moscovis SM, Gordon AE, Al Madani OM, Gleeson M, Scott RJ, Hall ST, et al., 'Virus infections and sudden death in infancy: The role of interferon-¿', Frontiers in Immunology, 6 (2015) [C1]

© 2015 Moscovis, Gordon, Al Madani, Gleeson, Scott, Hall, Burns and Blackwell.Respiratory infections have been implicated in sudden infant death syndrome (SIDS). As interferon-¿... [more]

© 2015 Moscovis, Gordon, Al Madani, Gleeson, Scott, Hall, Burns and Blackwell.Respiratory infections have been implicated in sudden infant death syndrome (SIDS). As interferon-¿ (IFN-¿) is a major response to virus infection, we examined (1) the frequency of single nucleotide polymorphism (SNP), IFNG T + 874A, in SIDS infants, their parents, and ethnic groups with different incidences of SIDS; (2) model systems with a monocytic cell line (THP-1) and human peripheral blood monocytes (PBMC) for effects of levels of IFN-¿ on inflammatory responses to bacterial antigens identified in SIDS; (3) interactions between genetic and environmental factors on IFN-¿ responses. IFNG T + 874A genotypes were determined for SIDS infants from three countries; families who had a SIDS death; populations with high (Indigenous Australian), medium (Caucasian), and low (Bangladeshi) SIDS incidences. The effect of IFN-¿ on cytokine responses to endotoxin was examined in model systems with THP-1 cells and human PBMC. The IFN-¿ responses to endotoxin and toxic shock syndrome toxin (TSST-1) were assessed in relation to genotype, gender, and reported smoking. There was a marginal association with IFNG T + 874A genotype and SIDS (p = 0.06). Indigenous Australians had significantly higher proportions of the IFNG T + 874A SNP (TT) associated with high responses of IFN-¿. THP-1 cells showed a dose dependent effect of IFN-¿ on cytokine responses to endotoxin. For PBMC, IFN-¿ enhanced interleukin (IL)-1ß, IL-6, and tumor necrosis factor-a responses but reduced IL-8 and IL-10 responses. Active smoking had a suppressive effect on baseline levels of IFN-¿. There was no effect of gender or genotype on IFN-¿ responses to bacterial antigens tested; however, significant differences were observed between genotypes in relation to smoking. The results indicate virus infections contribute to dysregulation of cytokine responses to bacterial antigens and studies on physiological effects of genetic factors must include controls for recent or concurrent infection and exposure to cigarette smoke.

DOI 10.3389/fimmu.2015.00107
Citations Scopus - 2Web of Science - 2
Co-authors Maree Gleeson, Sharron Hall, Caroline Blackwell
2015 Vilhjálmsson BJ, Yang J, Finucane HK, Gusev A, Lindström S, Ripke S, et al., 'Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores', American Journal of Human Genetics, 97 576-592 (2015) [C1]

© 2015 The American Society of Human Genetics. All rights reserved.Polygenic risk scores have shown great promise in predicting complex disease risk and will become more accurate... [more]

© 2015 The American Society of Human Genetics. All rights reserved.Polygenic risk scores have shown great promise in predicting complex disease risk and will become more accurate as training sample sizes increase. The standard approach for calculating risk scores involves linkage disequilibrium (LD)-based marker pruning and applying a p value threshold to association statistics, but this discards information and can reduce predictive accuracy. We introduce LDpred, a method that infers the posterior mean effect size of each marker by using a prior on effect sizes and LD information from an external reference panel. Theory and simulations show that LDpred outperforms the approach of pruning followed by thresholding, particularly at large sample sizes. Accordingly, predicted R2 increased from 20.1% to 25.3% in a large schizophrenia dataset and from 9.8% to 12.0% in a large multiple sclerosis dataset. A similar relative improvement in accuracy was observed for three additional large disease datasets and for non-European schizophrenia samples. The advantage of LDpred over existing methods will grow as sample sizes increase.

DOI 10.1016/j.ajhg.2015.09.001
Citations Scopus - 36
Co-authors Carmel Loughland, Brian Kelly, Ulrich Schall, Paul Tooney, Frans Henskens, Pat Michie
2015 Rush A, Christiansen JH, Farrell JP, Goode SM, Scott RJ, Spring KJ, Byrne JA, 'Biobank classification in an Australian setting', Biopreservation and Biobanking, 13 212-218 (2015) [C1]
DOI 10.1089/bio.2015.0007
Citations Scopus - 4
2015 Painter JN, O'Mara TA, Batra J, Cheng T, Lose FA, Dennis J, et al., 'Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk', HUMAN MOLECULAR GENETICS, 24 1478-1492 (2015) [C1]
DOI 10.1093/hmg/ddu552
Citations Scopus - 14Web of Science - 14
Co-authors Liz Holliday, Mark Mcevoy, John Attia
2015 Gu BJ, Field J, Dutertre S, Ou A, Kilpatrick TJ, Lechner-Scott J, et al., 'A rare P2X7 variant Arg307Gln with absent pore formation function protects against neuroinflammation in multiple sclerosis.', Human molecular genetics, 24 5644-5654 (2015) [C1]
Citations Scopus - 8Web of Science - 8
Co-authors Pablo Moscato, Jeannette Lechner-Scott
2015 Field J, Shahijanian F, Schibeci S, Johnson L, Gresle M, Laverick L, et al., 'The MS risk allele of CD40 is associated with reduced cell-membrane bound expression in antigen presenting cells: Implications for gene function', PLoS ONE, 10 (2015) [C1]

© 2015 Field et al.Human genetic and animal studies have implicated the costimulatory molecule CD40 in the development of multiple sclerosis (MS). We investigated the cell specif... [more]

© 2015 Field et al.Human genetic and animal studies have implicated the costimulatory molecule CD40 in the development of multiple sclerosis (MS). We investigated the cell specific gene and protein expression variation controlled by the CD40 genetic variant(s) associated with MS, i.e. the T-allele at rs1883832. Previously we had shown that the risk allele is expressed at a lower level in whole blood, especially in people with MS. Here, we have defined the immune cell subsets responsible for genotype and disease effects on CD40 expression at the mRNA and protein level. In cell subsets in which CD40 is most highly expressed, B lymphocytes and dendritic cells, the MS-associated risk variant is associated with reduced CD40 cell-surface protein expression. In monocytes and dendritic cells, the risk allele additionally reduces the ratio of expression of full-length versus truncated CD40 mRNA, the latter encoding secreted CD40. We additionally show that MS patients, regardless of genotype, express significantly lower levels of CD40 cell-surface protein compared to unaffected controls in B lymphocytes. Thus, both genotype-dependent and independent down-regulation of cell-surface CD40 is a feature of MS. Lower expression of a co-stimulator of T cell activation, CD40, is therefore associated with increased MS risk despite the same CD40 variant being associated with reduced risk of other inflammatory autoimmune diseases. Our results highlight the complexity and likely individuality of autoimmune pathogenesis, and could be consistent with antiviral and/or immunoregulatory functions of CD40 playing an important role in protection from MS.

DOI 10.1371/journal.pone.0127080
Citations Scopus - 5
Co-authors Jeannette Lechner-Scott, Pablo Moscato
2015 Hancock DB, Levy JL, Gaddis NC, Glasheen C, Saccone NL, Page GP, et al., 'Cis-Expression Quantitative Trait Loci Mapping Reveals Replicable Associations with Heroin Addiction in OPRM1', Biological Psychiatry, 78 474-484 (2015) [C1]
DOI 10.1016/j.biopsych.2015.01.003
Citations Scopus - 7Web of Science - 6
Co-authors Mark Mcevoy, Liz Holliday, John Attia
2015 Holliday EG, Traylor M, Malik R, Bevan S, Falcone G, Hopewell JC, et al., 'Genetic Overlap Between Diagnostic Subtypes of Ischemic Stroke', STROKE, 46 615-+ (2015) [C1]
DOI 10.1161/STROKEAHA.114.007930
Citations Scopus - 12Web of Science - 12
Co-authors Lisa Lincz, Christopher Levi, John Attia, Christopher Oldmeadow, Liz Holliday
2015 Sapkota Y, Low SK, Attia J, Gordon SD, Henders AK, Holliday EG, et al., 'Association between endometriosis and the interleukin 1A (IL1A) locus.', Human Reproduction, 30 239-248 (2015) [C1]
DOI 10.1093/humrep/deu267
Citations Scopus - 17Web of Science - 16
Co-authors Mark Mcevoy, Liz Holliday, John Attia
2015 Finucane HK, Bulik-Sullivan B, Gusev A, Trynka G, Reshef Y, Loh P-R, et al., 'Partitioning heritability by functional annotation using genome-wide association summary statistics', Nature Genetics, 47 1228-1235 (2015) [C1]
DOI 10.1038/ng.3404
Co-authors Frans Henskens, Paul Tooney, Pat Michie, Ulrich Schall, Carmel Loughland
2015 Loh P-R, Bhatia G, Gusev A, Finucane HK, Bulik-Sullivan BK, Pollack SJ, et al., 'Contrasting genetic architectures of schizophrenia and other complex diseases using fast variance-components analysis', Nature Genetics, 47 1385-1392 (2015) [C1]
DOI 10.1038/ng.3431
Co-authors Pat Michie, Ulrich Schall, Frans Henskens, Paul Tooney, Carmel Loughland
2015 O'Mara TA, Glubb DM, Painter JN, Cheng T, Dennis J, Australian National Endometrial Cancer Study Group (ANECS), et al., 'Comprehensive genetic assessment of the ESR1 locus identifies a risk region for endometrial cancer.', Endocr Relat Cancer, 22 851-861 (2015) [C1]
DOI 10.1530/ERC-15-0319
Citations Scopus - 4Web of Science - 4
Co-authors John Attia, Mark Mcevoy, Liz Holliday
2015 Ingason A, Giegling I, Hartmann AM, Genius J, Konte B, Friedl M, et al., 'Expression analysis in a rat psychosis model identifies novel candidate genes validated in a large case¿control sample of schizophrenia', Translational Psychiatry, 5 e656-e656 (2015) [C1]
DOI 10.1038/tp.2015.151
Co-authors Pat Michie, Brian Kelly, Paul Tooney, Frans Henskens, Carmel Loughland, Murray Cairns, Ulrich Schall
2015 Thompson ER, Gorringe KL, Rowley SM, Li N, McInerny S, Wong-Brown MW, et al., 'Reevaluation of the BRCA2 truncating allele c.9976A > T (p.Lys3326Ter) in a familial breast cancer context', SCIENTIFIC REPORTS, 5 (2015) [C1]
DOI 10.1038/srep14800
Citations Scopus - 3Web of Science - 4
Co-authors Michelle Wong-Brown
2015 Cropley VL, Scarr E, Fornito A, Klauser P, Bousman CA, Scott R, et al., 'The effect of a muscarinic receptor 1 gene variant on grey matter volume in schizophrenia', Psychiatry Research - Neuroimaging, 234 182-187 (2015) [C1]

© 2015 Elsevier Ireland Ltd.Previous research has demonstrated that individuals with schizophrenia who are homozygous at the c.267C>A single nucleotide polymorphism (rs2067477) w... [more]

© 2015 Elsevier Ireland Ltd.Previous research has demonstrated that individuals with schizophrenia who are homozygous at the c.267C>A single nucleotide polymorphism (rs2067477) within the cholinergic muscarinic M1 receptor (CHRM1) perform less well on the Wisconsin Card Sorting Test (WCST) than those who are heterozygous. This study sought to determine whether variation in the rs2067477 genotype was associated with differential changes in brain structure. Data from 227 patients with established schizophrenia or schizoaffective disorder were obtained from the Australian Schizophrenia Research Bank. Whole-brain voxel-based morphometry was performed to compare regional grey matter volume (GMV) between the 267C/C (N=191) and 267C/A (N=36) groups. Secondary analyses tested for an effect of genotype on cognition (the WCST was not available). Individuals who were homozygous (267C/C) demonstrated significantly reduced GMV in the right precentral gyrus compared to those who were heterozygous (267C/A). These preliminary results suggest that the rs2067477 genotype is associated with brain structure in the right precentral gyrus in individuals with schizophrenia/schizoaffective disorder. Future studies are required to replicate these results and directly link the volumetric reductions with specific cognitive processes.

DOI 10.1016/j.pscychresns.2015.09.004
Citations Scopus - 1Web of Science - 1
Co-authors Murray Cairns, Paul Tooney
2014 Oldmeadow C, Mossman D, Evans T-J, Holliday EG, Tooney PA, Cairns MJ, et al., 'Combined analysis of exon splicing and genome wide polymorphism data predict schizophrenia risk loci.', J Psychiatr Res, 52 44-49 (2014) [C1]
DOI 10.1016/j.jpsychires.2014.01.011
Citations Scopus - 7Web of Science - 7
Co-authors Liz Holliday, Murray Cairns, John Attia, Paul Tooney, Christopher Oldmeadow
2014 Evans T-J, Milne E, Anderson D, de Klerk NH, Jamieson SE, Talseth-Palmer BA, et al., 'Confirmation of childhood acute lymphoblastic leukemia variants, ARID5B and IKZF1, and interaction with parental environmental exposures.', PLoS One, 9 e110255 (2014) [C1]
DOI 10.1371/journal.pone.0110255
Citations Scopus - 6Web of Science - 6
Co-authors John Attia, Nikola Bowden, Bente Talseth-Palmer, Liz Holliday
2014 Avery-Kiejda KA, Braye SG, Forbes JF, Scott RJ, 'The expression of Dicer and Drosha in matched normal tissues, tumours and lymph node metastases in triple negative breast cancer', BMC CANCER, 14 (2014) [C1]
DOI 10.1186/1471-2407-14-253
Citations Scopus - 17Web of Science - 18
Co-authors Kelly Kiejda, John Forbes
2014 Gusev A, Lee SH, Trynka G, Finucane H, Vilhjálmsson BJ, Xu H, et al., 'Partitioning Heritability of Regulatory and Cell-Type-Specific Variants across 11 Common Diseases', The American Journal of Human Genetics, 95 535-552 (2014) [C1]
DOI 10.1016/j.ajhg.2014.10.004
Citations Scopus - 114Web of Science - 112
Co-authors Brian Kelly, Pat Michie, Ulrich Schall, Paul Tooney, Carmel Loughland, Frans Henskens
2014 Graves MC, Benton M, Lea RA, Boyle M, Tajouri L, Macartney-Coxson D, et al., 'Methylation differences at the HLA-DRB1 locus in CD4+ T-Cells are associated with multiple sclerosis', Multiple Sclerosis Journal, 20 1033-1041 (2014) [C1]

Background: Multiple sclerosis (MS) is thought to be caused by T-cell mediated autoimmune dysfunction. Risk ofdeveloping MS is influenced by environmental and genetic factors. Mod... [more]

Background: Multiple sclerosis (MS) is thought to be caused by T-cell mediated autoimmune dysfunction. Risk ofdeveloping MS is influenced by environmental and genetic factors. Modifiable differences in DNA methylation arerecognized as epigenetic contributors to MS risk and may provide a valuable link between environmental exposure andinherited genetic systems.Objectives and methods: To identify methylation changes associated with MS, we performed a genome-wide DNAmethylation analysis of CD4+ T cells from 30 patients with relapsing-remitting MS and 28 healthy controls using Illumina450K methylation arrays.Results: A striking differential methylation signal was observed at chr. 6p21, with a peak signal at HLA-DRB1. Afterprioritisation, we identified a panel of 74 CpGs associated with MS in this cohort. Most notably we found evidence of amajor effect CpG island in DRB1 in MS cases (pFDR <3 x 10-3). In addition, we found 55 non-HLA CpGs that exhibiteddifferential methylation, many of which localise to genes previously linked to MS.Conclusions: Our findings provide the first evidence for association of DNA methylation at HLA-DRB1 in relation toMS risk. Further studies are now warranted to validate and understand how these findings are involved in MS pathology. © The Author(s) 2013.

DOI 10.1177/1352458513516529
Citations Scopus - 25Web of Science - 13
Co-authors Jeannette Lechner-Scott
2014 Dymerska D, Kurzawski G, Suchy J, Roomere H, Toome K, Metspalu A, et al., 'Lynch syndrome mutations shared by the Baltic States and Poland', Clinical Genetics, 86 190-193 (2014) [C3]
DOI 10.1111/cge.12251
Citations Web of Science - 1
2014 Holliday EG, Attia J, Hancock S, Koloski N, McEvoy M, Peel R, et al., 'Genome-wide association study identifies two novel genomic regions in irritable bowel syndrome', American Journal of Gastroenterology, 109 770-772 (2014) [C1]
DOI 10.1038/ajg.2014.56
Citations Scopus - 6Web of Science - 6
Co-authors Mark Mcevoy, Roseanne Peel, Liz Holliday, John Attia, Nicholas Talley
2014 Wong-Brown MW, Avery-Kiejda KA, Bowden NA, Scott RJ, 'Low prevalence of germline PALB2 mutations in Australian triple-negative breast cancer', International Journal of Cancer, 134 301-305 (2014) [C1]

Triple-negative breast cancer (TNBC) is a tumour classification that is defined by oestrogen receptor, progesterone receptor and human epidermal growth factor receptor 2 receptor ... [more]

Triple-negative breast cancer (TNBC) is a tumour classification that is defined by oestrogen receptor, progesterone receptor and human epidermal growth factor receptor 2 receptor negativity. TNBCs share a similar gene expression profile to BRCA-mutated tumours, have been shown to carry a high proportion of BRCA mutations and have a more adverse prognosis compared to other types of breast tumours. PALB2 has been shown to be a moderate-penetrance breast cancer susceptibility gene and is involved in the same DNA damage repair pathway as BRCA1 and BRCA2; this raises the possibility that germline PALB2 mutations may be involved in the pathogenesis of TNBCs. In our study, we sequenced the coding regions of PALB2 (including intron/exon boundaries) in genomic DNA from 347 patients diagnosed with TNBC to determine the prevalence of deleterious mutations in this population. Two novel truncating mutations (c.758dup and c.2390del) and one previously detected truncating mutation (c.3113+5G>C) were found. In addition, five variants predicted to be protein-affecting were also identified. Our study shows that the prevalence of PALB2 germline mutations in individuals with TNBC is ~1%, similar to the prevalence of PALB2 germline mutation of 1% in familial non-BRCA1/2 breast cancer cohorts. © 2013 UICC.

DOI 10.1002/ijc.28361
Citations Scopus - 7Web of Science - 5
Co-authors Nikola Bowden, Michelle Wong-Brown, Kelly Kiejda
2014 McCarthy-Jones S, Green MJ, Scott RJ, Tooney PA, Cairns MJ, Wu JQ, et al., 'Preliminary evidence of an interaction between the FOXP2 gene and childhood emotional abuse predicting likelihood of auditory verbal hallucinations in schizophrenia', JOURNAL OF PSYCHIATRIC RESEARCH, 50 66-72 (2014) [C1]
DOI 10.1016/j.jpsychires.2013.11.012
Citations Scopus - 8Web of Science - 6
Co-authors Murray Cairns, Christopher Oldmeadow, Paul Tooney
2014 Green MJ, Chia TY, Cairns MJ, Wu J, Tooney PA, Scott RJ, Carr VJ, 'Catechol-O-methyltransferase (COMT) genotype moderates the effects of childhood trauma on cognition and symptoms in schizophrenia', Journal of Psychiatric Research, 49 43-50 (2014) [C1]

The interaction of genetic and environmental factors may affect the course and development of psychotic disorders. We examined whether the effects of childhood trauma on cognition... [more]

The interaction of genetic and environmental factors may affect the course and development of psychotic disorders. We examined whether the effects of childhood trauma on cognition and symptoms in schizophrenia were moderated by the Catechol-O-methyltransferase (COMT) Val158Met polymorphism, a common genetic variant known to affect cognition and prefrontal dopamine levels. Participants were 429 schizophrenia/schizoaffective cases from the Australian Schizophrenia Research Bank (ASRB). Cognitive performance was assessed using the Repeatable Battery for Assessment of Neuropsychological Status (RBANS), Controlled Oral Word Association Test (COWAT), Letter Number Sequencing (LNS) test, and the Wechsler Test of Adult Reading (WTAR). Hierarchical regression was used to test the main effects and additive interaction effects of genotype and childhood trauma in the domains of physical abuse, emotional abuse, and emotional neglect, on cognition and symptom profiles of clinical cases. Consistent with previous findings, COMT Val homozygotes performed worse on cognitive measures in the absence of childhood adversity. In addition, a significant interaction between COMT genotype and physical abuse was associated with better executive function in Val homozygotes, relative to those of the same genotype with no history of abuse. Finally, the severity of positive symptoms was greater in Met carriers who had experienced physical abuse, and the severity of negative symptoms in Met carriers was greater in the presence of emotional neglect. These results suggest that the possible epigenetic modulation of the expression of the COMT Val158Met polymorphism and consequent effects on cognition and symptoms in schizophrenia, with worse outcomes associated with adverse childhood experiences in Met carriers. © 2013 Elsevier Ltd.

DOI 10.1016/j.jpsychires.2013.10.018
Citations Scopus - 22Web of Science - 20
Co-authors Murray Cairns, Paul Tooney
2014 Ripke S, Neale BM, Corvin A, Walters JTR, Farh KH, Holmans PA, et al., 'Biological insights from 108 schizophrenia-associated genetic loci', Nature, 511 421-427 (2014) [C1]

Schizophrenia is a highly heritable disorder. Genetic risk is conferred by a large number of alleles, including common alleles of small effect that might be detected by genome-wid... [more]

Schizophrenia is a highly heritable disorder. Genetic risk is conferred by a large number of alleles, including common alleles of small effect that might be detected by genome-wide association studies. Here we report a multi-stage schizophrenia genome-wide association study of up to 36,989 cases and 113,075 controls. We identify 128 independent associations spanning 108 conservatively defined loci that meet genome-wide significance, 83 of which have not been previously reported. Associations were enriched among genes expressed in brain, providing biological plausibility for the findings. Many findings have the potential to provide entirely new insights into aetiology, but associations at DRD2 and several genes involved in glutamatergic neurotransmission highlight molecules of known and potential therapeutic relevance to schizophrenia, and are consistent with leading pathophysiological hypotheses. Independent of genes expressed in brain, associations were enriched among genes expressed in tissues that have important roles in immunity, providing support for the speculated link between the immune system and schizophrenia. © 2014 Macmillan Publishers Limited. All rights reserved.

DOI 10.1038/nature13595
Citations Scopus - 1345Web of Science - 618
Co-authors Frans Henskens, Carmel Loughland, Pat Michie, Ulrich Schall
2014 Pluschke A, Jaaback K, Scott RJ, Lombard J, Yin H, 'Epithelioid trophoblastic tumour simulating a high grade carcinoma', PATHOLOGY, 46 248-250 (2014) [C3]
DOI 10.1097/PAT.0000000000000088
2014 Greenop KR, de Klerk NH, Bower C, Milne E, Miller M, Scott RJ, et al., 'Maternal Dietary Intake of Folate and Vitamins B6 and B12 During Pregnancy and Risk of Childhood Brain Tumors', Nutrition and Cancer, (2014) [C1]

Childhood brain tumors (CBT) are the second most common childhood cancers, yet their etiology is largely unknown. We investigated whether maternal gestational intake of folate and... [more]

Childhood brain tumors (CBT) are the second most common childhood cancers, yet their etiology is largely unknown. We investigated whether maternal gestational intake of folate and vitamins B6 and B12 was associated with CBT risk in a nationwide case-control study conducted 2005-2010. Case children 0-14 years were recruited from all 10 Australian pediatric oncology centers. Control children were recruited by national random digit dialing, frequency matched to cases on age, sex, and state of residence. Dietary intake was ascertained using food frequency questionnaires and adjusted for total energy intake. Data from 293 case and 726 control mothers were analyzed using unconditional logistic regression. The odds ratio (OR) for the highest versus lowest tertile of folate intake was 0.70 [95% confidence interval (CI): 0.48, 1.02]. The ORs appeared lower in mothers who drank alcohol during pregnancy (OR = 0.45, 95% CI: 0.22, 0.93), mothers who took folic acid (OR = 0.67, 95% CI: 0.42, 1.06) or B6/B12 supplements (OR = 0.51, 95% CI: 0.25, 1.06) and in children younger than 5 years (OR = 0.50, 95% CI: 0.27, 0.93). These findings are consistent with folate's crucial role in maintenance of genomic integrity and DNA methylation. Dietary intake of B6 and B12 was not associated with risk of CBT. © 2014 Copyright © Taylor & Francis Group, LLC.

DOI 10.1080/01635581.2014.916326
Citations Scopus - 14Web of Science - 12
Co-authors John Attia
2014 De Vivo I, Prescott J, Setiawan VW, Olson SH, Wentzensen N, Attia J, et al., 'Genome-wide association study of endometrial cancer in E2C2', HUMAN GENETICS, 133 211-224 (2014) [C1]
DOI 10.1007/s00439-013-1369-1
Citations Scopus - 18Web of Science - 18
Co-authors John Attia, Liz Holliday, Mark Mcevoy
2014 Williams FMK, Carter AM, Hysi PG, Surdulescu G, Hodgkiss D, Soranzo N, et al., 'Ischemic stroke is associated with the ABO locus: The EuroCLOT study (vol 73, pg 16, 2013)', ANNALS OF NEUROLOGY, 75 166-167 (2014)
DOI 10.1002/ana.24105
Co-authors John Attia, Liz Holliday, Christopher Levi
2014 Mirecka A, Paszkowska-Szczur K, Scott RJ, Górski B, van de Wetering T, Wokolorczyk D, et al., 'Common variants of xeroderma pigmentosum genes and prostate cancer risk', Gene, 546 156-161 (2014) [C1]

The genetic basis of prostate cancer (PC) is complex and appears to involve multiple susceptibility genes. A number of studies have evaluated a possible correlation between severa... [more]

The genetic basis of prostate cancer (PC) is complex and appears to involve multiple susceptibility genes. A number of studies have evaluated a possible correlation between several NER gene polymorphisms and PC risk, but most of them evaluated only single SNPs among XP genes and the results remain inconsistent. Out of 94 SNPs located in seven XP genes (XPA-. XPG) a total of 15 SNPs were assayed in 720 unselected patients with PC and compared to 1121 healthy adults. An increased risk of disease was associated with the XPD SNP, rs1799793 (Asp312Asn) AG genotype (OR. = 2.60; p. <. 0.001) and with the AA genotype (OR. = 531; p. <. 0.0001) compared to the control population. Haplotype analysis of XPD revealed one protective haplotype and four associated with an increased disease risk, which showed that the A allele (XPD rs1799793) appeared to drive the main effect on promoting prostate cancer risk. Polymorphism in XPD gene appears to be associated with the risk of prostate cancer. © 2014.

DOI 10.1016/j.gene.2014.06.026
Citations Scopus - 10Web of Science - 8
2014 Greenop KR, Peters S, Fritschi L, Glass DC, Ashton LJ, Bailey HD, et al., 'Exposure to household painting and floor treatments, and parental occupational paint exposure and risk of childhood brain tumors: results from an Australian case-control study', CANCER CAUSES & CONTROL, 25 283-291 (2014) [C1]
DOI 10.1007/s10552-013-0330-x
Citations Scopus - 3Web of Science - 3
2014 Greenop KR, Peters S, Bailey HD, Fritschi L, Attia J, Scott RJ, et al., 'Exposure to pesticides and the risk of childhood brain tumors (vol 24, pg 1269, 2013)', CANCER CAUSES & CONTROL, 25 1239-1240 (2014) [O1]
DOI 10.1007/s10552-014-0418-y
Co-authors John Attia
2014 Greenop KR, Peters S, Fritschi L, Glass DC, Ashton LJ, Bailey HD, et al., 'Erratum to: Exposure to household painting and floor treatments, and parental occupational paint exposure and risk of childhood brain tumors: results from an Australian case-control study', Cancer Causes & Control, (2014) [O1]
DOI 10.1007/s10552-014-0419-x
2014 Milne E, Greenop KR, Fritschi L, Attia J, Bailey HD, Scott RJ, et al., 'Childhood and parental diagnostic radiological procedures and risk of childhood brain tumors', Cancer Causes and Control, 25 375-383 (2014) [C1]

Purpose: Childhood brain tumors (CBT) are the second most common type of childhood cancer and the leading cause of childhood cancer mortality. Few causes of CBT are known, but par... [more]

Purpose: Childhood brain tumors (CBT) are the second most common type of childhood cancer and the leading cause of childhood cancer mortality. Few causes of CBT are known, but parental, fetal, and early life exposures are likely to be important given the early age at diagnosis of many cases. We aimed to investigate whether parents' diagnostic radiological procedures before conception, in the mother during pregnancy or the child's procedures were associated with an increased risk of CBT. Methods: This population-based case-control study was conducted between 2005 and 2010. Cases were identified through all ten Australian pediatric oncology centers, and controls via nationwide random-digit dialing; frequency-matched to cases on age, sex and state of residence. Information on radiological exposures in the time periods of interest was obtained for 306 case and 950 control families through mailed questionnaires. Analysis used unconditional logistic regression, adjusting for matching variables and potential confounders. Results: We found no evidence of positive associations between risk of CBT overall and childhood or parental pre-pregnancy radiological procedures. Increased ORs for high-grade gliomas associated with childhood radiological procedures were based on small numbers and may be due to chance. Conclusions: Given the evidence for an increased risk of CBT in cohort studies of computed tomography (CT) in childhood, the lack of such an association in our study may be due to the reduced intensity of CTs after 2001. Future research to investigate the safety of fetal exposure to more intense procedures like CT scans is needed. © 2014 Springer International Publishing Switzerland.

DOI 10.1007/s10552-014-0338-x
Citations Scopus - 1Web of Science - 1
Co-authors John Attia
2014 Moayyeri A, Hsu Y-H, Karasik D, Estrada K, Xiao S-M, Nielson C, et al., 'Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium', HUMAN MOLECULAR GENETICS, 23 3054-3068 (2014) [C1]
DOI 10.1093/hmg/ddt675
Citations Scopus - 31Web of Science - 28
Co-authors Mark Mcevoy, Christopher Oldmeadow, Liz Holliday, Roseanne Peel, John Attia
2014 Purrington KS, Slettedahl S, Bolla MK, Michailidou K, Czene K, Nevanlinna H, et al., 'Genetic variation in mitotic regulatory pathway genes is associated with breast tumor grade', HUMAN MOLECULAR GENETICS, 23 6034-6046 (2014) [C1]
DOI 10.1093/hmg/ddu300
Citations Scopus - 4Web of Science - 4
2014 Springelkamp H, Höhn R, Mishra A, Hysi PG, Khor CC, Loomis SJ, et al., 'Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process', Nature Communications, 5 (2014) [C1]

© 2014 Macmillan Publishers Limited. All rights reserved.Glaucoma is characterized by irreversible optic nerve degeneration and is the most frequent cause of irreversible blindne... [more]

© 2014 Macmillan Publishers Limited. All rights reserved.Glaucoma is characterized by irreversible optic nerve degeneration and is the most frequent cause of irreversible blindness worldwide. Here, the International Glaucoma Genetics Consortium conducts a meta-analysis of genome-wide association studies of vertical cup-disc ratio (VCDR), an important disease-related optic nerve parameter. In 21,094 individuals of European ancestry and 6,784 individuals of Asian ancestry, we identify 10 new loci associated with variation in VCDR. In a separate risk-score analysis of five case-control studies, Caucasians in the highest quintile have a 2.5-fold increased risk of primary open-angle glaucoma as compared with those in the lowest quintile. This study has more than doubled the known loci associated with optic disc cupping and will allow greater understanding of mechanisms involved in this common blinding condition.

DOI 10.1038/ncomms5883
Citations Scopus - 28
Co-authors Liz Holliday, John Attia
2014 Wan C, Latter JL, Amirshahi A, Symonds I, Finnie J, Bowden N, et al., 'Progesterone Activates Multiple Innate Immune Pathways in Chlamydia trachomatis-Infected Endocervical Cells', American Journal of Reproductive Immunology, 71 165-177 (2014) [C1]

Problem: Susceptibility to Chlamydia trachomatis infection is increased by oral contraceptives and modulated by sex hormones. We therefore sought to determine the effects of femal... [more]

Problem: Susceptibility to Chlamydia trachomatis infection is increased by oral contraceptives and modulated by sex hormones. We therefore sought to determine the effects of female sex hormones on the innate immune response to C. trachomatis infection. Method of study: ECC-1 endometrial cells, pre-treated with oestradiol or progesterone, were infected with C. trachomatis and the host transcriptome analysed by Illumina Sentrix HumanRef-8 microarray. Primary endocervical epithelial cells, prepared at either the proliferative or secretory phase of the menstrual cycle, were infected with C. trachomatis and cytokine gene expression determined by quantitative RT-PCR analysis. Results: Chlamydia trachomatis yield from progesterone-primed ECC-1 cells was significantly reduced compared with oestradiol-treated cells. Genes upregulated in progesterone-treated and Chlamydia-infected cells only included multiple CC and CXC chemokines, IL-17C, IL-29, IL-32, TNF-a, DEFB4B, LCN2, S100A7-9, ITGAM, NOD2, JAK1, IL-6ST, type I and II interferon receptors, numerous interferon-stimulated genes and STAT6. CXCL10, CXCL11, CX3CL1 and IL-17C, which were also upregulated in infected secretory-stage primary cells, and there was a trend towards higher levels of immune mediators in infected secretory-phase compared with proliferative-phase cells. Conclusion: Progesterone treatment primes multiple innate immune pathways in hormone-responsive epithelial cells that could potentially increase resistance to chlamydial infection. © 2013 John Wiley & Sons Ltd.

DOI 10.1111/aji.12168
Citations Scopus - 6Web of Science - 8
Co-authors Nikola Bowden, Joanna Latter, Ian Symonds
2014 Loth DW, Artigas MS, Gharib SA, Wain LV, Franceschini N, Koch B, et al., 'Genome-wide association analysis identifies six new loci associated with forced vital capacity', NATURE GENETICS, 46 669-677 (2014) [C1]
DOI 10.1038/ng.3011
Citations Scopus - 36Web of Science - 37
Co-authors Christopher Oldmeadow, John Attia, Liz Holliday
2014 Thompson BA, Spurdle AB, Plazzer JP, Greenblatt MS, Akagi K, Al-Mulla F, et al., 'Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database', Nature Genetics, 46 107-115 (2014) [C1]

The clinical classification of hereditary sequence variants identified in disease-related genes directly affects clinical management of patients and their relatives. The Internati... [more]

The clinical classification of hereditary sequence variants identified in disease-related genes directly affects clinical management of patients and their relatives. The International Society for Gastrointestinal Hereditary Tumours (InSiGHT) undertook a collaborative effort to develop, test and apply a standardized classification scheme to constitutional variants in the Lynch syndrome-associated genes MLH1, MSH2, MSH6 and PMS2. Unpublished data submission was encouraged to assist in variant classification and was recognized through microattribution. The scheme was refined by multidisciplinary expert committee review of the clinical and functional data available for variants, applied to 2,360 sequence alterations, and disseminated online. Assessment using validated criteria altered classifications for 66% of 12,006 database entries. Clinical recommendations based on transparent evaluation are now possible for 1,370 variants that were not obviously protein truncating from nomenclature. This large-scale endeavor will facilitate the consistent management of families suspected to have Lynch syndrome and demonstrates the value of multidisciplinary collaboration in the curation and classification of variants in public locus-specific databases. © 2014 Nature America, Inc.

DOI 10.1038/ng.2854
Citations Scopus - 136Web of Science - 131
2014 Holliday EG, Traylor M, Malik R, Bevan S, Maguire J, Koblar SA, et al., 'Polygenic Overlap Between Kidney Function and Large Artery Atherosclerotic Stroke', STROKE, 45 3508-+ (2014) [C1]
DOI 10.1161/STROKEAHA.114.006609
Citations Scopus - 3Web of Science - 4
Co-authors Liz Holliday, Christopher Oldmeadow, Mark Mcevoy, Christopher Levi, John Attia
2014 Cox MB, Bowden NA, Scott RJ, Lechner-Scott J, 'Common genetic variants in the plasminogen activation pathway are not associated with multiple sclerosis', Multiple Sclerosis Journal, 20 489-491 (2014) [C1]

Matrix metalloproteinase 9 (MMP9) is involved in multiple sclerosis (MS) aetiology. Previously, we identified differential gene expression of plasminogen activation cascade genes ... [more]

Matrix metalloproteinase 9 (MMP9) is involved in multiple sclerosis (MS) aetiology. Previously, we identified differential gene expression of plasminogen activation cascade genes in MS patients. Based on our gene expression results, we wanted to identify whether polymorphisms in the genes associated with the plasminogen pathway could predict MS risk. We genotyped 1153 trio families, 727 MS cases and 604 healthy controls for 17 polymorphisms in MMP9, plasminogen activator urokinase (PLAU), PLAU receptor (PLAUR) and serpin peptidase inhibitor/clade 2/member B2 (SERPINB2) genes. No associations were found between the 17 polymorphisms and MS. Also, gene expression levels were analysed according to genotype: no associations were observed. In conclusion despite the consistent evidence for the role of MMP9 and the plasminogen activation cascade in MS, we found no associations between genotype nor gene expression. This suggested there are other potentially modifiable factors influencing gene expression in MS. © The Author(s) 2013.

DOI 10.1177/1352458513498127
Citations Scopus - 2Web of Science - 2
Co-authors Jeannette Lechner-Scott, Nikola Bowden
2014 Smith CJA, Bensing S, Maltby VE, Zhang M, Scott RJ, Smith R, et al., 'Intermediate lobe immunoreactivity in a patient with suspected lymphocytic hypophysitis', Pituitary, 17 22-29 (2014) [C1]

Lymphocytic hypophysitis is an organ-specific autoimmune disease characterised by destruction of pituitary hormone-secreting cells due to attack by self-reactive T lymphocytes. Th... [more]

Lymphocytic hypophysitis is an organ-specific autoimmune disease characterised by destruction of pituitary hormone-secreting cells due to attack by self-reactive T lymphocytes. The spectrum of pituitary autoantibodies characterised by indirect immunofluorescence (IF) in these patients has not been substantially defined. The purpose of this study was to determine the spectrum of pituitary autoantibodies in 16 lymphocytic hypophysitis patients. Pituitary sections were prepared from guinea pigs and sera from 16 lymphocytic hypophysitis patients (13 biopsy proven and 3 suspected cases) and 13 healthy controls were evaluated for immunoreactivity to the pituitary tissue by immunofluorescence. A single patient was found to have high titre pituitary autoantibodies against guinea pig pituitary tissue. Immunoreactivity was directed against cells of the intermediate lobe. We present the case report of the patient who is a 24 year old woman that presented with headaches, polyuria and polydipsia. A uniformly enlarged pituitary mass was visible on MRI and a diagnosis of suspected lymphocytic hypophysitis was made. Based on our IF study, we postulate this patient has an autoimmune process directed towards the major cell type in the intermediate lobe, the melanotroph. Pre-adsorption with peptides representing adrenocorticotropic hormone, a-melanocyte stimulating hormone or ß-endorphin did not affect the IF signal suggesting our patient's pituitary autoantibodies may target some other product of Proopiomelanocortin (POMC) processing, such as corticotrophin-like intermediate peptide or ¿-lipoprotein. Alternatively, the autoantibodies may target a peptide completely unrelated to POMC processing. © 2013 Springer Science+Business Media New York.

DOI 10.1007/s11102-013-0461-9
Citations Scopus - 1Web of Science - 1
Co-authors Vicki E Maltby, Roger Smith
2014 Oldmeadow C, Holliday EG, McEvoy M, Scott R, Kwok JBJ, Mather K, et al., 'Concordance between direct and imputed APOE genotypes using 1000 genomes data', Journal of Alzheimer's Disease, 42 391-393 (2014) [C1]

© 2014 - IOS Press and the authors. All rights reserved.There are a growing number of large cohorts of older persons with genome-wide genotyping data available, but APOE is not i... [more]

© 2014 - IOS Press and the authors. All rights reserved.There are a growing number of large cohorts of older persons with genome-wide genotyping data available, but APOE is not included in any of the common microarray platforms. We compared directly measured APOE genotypes with those imputed using microarray data and the '1000 Genomes' dataset in a sample of 320 Caucasians. We find 90% agreement for e2/e3/e4 genotypes and 93% agreement for predicting e4 status, yielding kappa values of 0.81 and 0.84, respectively. More stringent thresholds around allele number estimates can increase this agreement to 90-97% and kappas of 0.90-0.93.

DOI 10.3233/JAD-140846
Citations Scopus - 1Web of Science - 1
Co-authors Liz Holliday, John Attia, Peter Schofield, Mark Mcevoy, Christopher Oldmeadow
2014 Spurdle AB, Couch FJ, Parsons MT, McGuffog L, Barrowdale D, Bolla MK, et al., 'Refined histopathological predictors of BRCA1 and BRCA2 mutation status: A large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia', Breast Cancer Research, 16 3419 (2014) [C1]
DOI 10.1186/s13058-014-0474-y
Citations Scopus - 15Web of Science - 15
Co-authors Mark Parsons
2014 de Zeeuw EL, van Beijsterveldt CEM, Glasner TJ, Bartels M, Ehli EA, Davies GE, et al., 'Polygenic scores associated with educational attainment in adults predict educational achievement and ADHD symptoms in children', American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, 165 510-520 (2014)

The American Psychiatric Association estimates that 3 to 7 per cent of all school aged children are diagnosed with attention deficit hyperactivity disorder (ADHD). Even after corr... [more]

The American Psychiatric Association estimates that 3 to 7 per cent of all school aged children are diagnosed with attention deficit hyperactivity disorder (ADHD). Even after correcting for general cognitive ability, numerous studies report a negative association between ADHD and educational achievement. With polygenic scores we examined whether genetic variants that have a positive influence on educational attainment have a protective effect against ADHD. The effect sizes from a large GWA meta-analysis of educational attainment in adults were used to calculate polygenic scores in an independent sample of 12-year-old children from the Netherlands Twin Register. Linear mixed models showed that the polygenic scores significantly predicted educational achievement, school performance, ADHD symptoms and attention problems in children. These results confirm the genetic overlap between ADHD and educational achievement, indicating that one way to gain insight into genetic variants responsible for variation in ADHD is to include data on educational achievement, which are available at a larger scale. © 2014 Wiley Periodicals, Inc.

DOI 10.1002/ajmg.b.32254
Citations Scopus - 10
Co-authors Liz Holliday, John Attia, Christopher Oldmeadow
2014 Greenop KR, Peters S, Bailey HD, Fritschi L, Attia J, Scott RJ, et al., 'Erratum to: Exposure to pesticides and the risk of childhood brain tumors', Cancer Causes and Control, 25 1239-1240 (2014)
DOI 10.1007/s10552-014-0418-y
Co-authors John Attia
2014 Abdullah N, Attia J, Oldmeadow C, Scott RJ, Holliday EG, 'The Architecture of Risk for Type 2 Diabetes: Understanding Asia in the Context of Global Findings', INTERNATIONAL JOURNAL OF ENDOCRINOLOGY, (2014) [C1]
DOI 10.1155/2014/593982
Citations Scopus - 14Web of Science - 1
Co-authors Christopher Oldmeadow, John Attia, Liz Holliday
2014 Zyluk A, Paszkowska-Szczur K, Gupta S, Scott RJ, Lubinski J, Debniak T, 'Dupuytren's disease and the risk of malignant neoplasms', Hereditary Cancer in Clinical Practice, 12 (2014) [C1]

The object of this study was the investigation of the risk of occurrence of malignant neoplasms in 508 patients with Dupuytren's disease (DD) and in 2157 of their 1st degree relat... [more]

The object of this study was the investigation of the risk of occurrence of malignant neoplasms in 508 patients with Dupuytren's disease (DD) and in 2157 of their 1st degree relatives. In the first stage of the study, we evaluated the tumour spectrum as well as the age of the patient at diagnosis of cancers in DD families along with the observed and expected frequencies of malignancies. In the second stage of the study, we examined the distribution of 20 common mutations/polymorphisms in 12 known cancer susceptibility genes among DD patients and 508 matched healthy controls. No such study has been published to date. Results. No significant differences were noted between malignancies diagnosed among members of DD families and the general population. Molecular examination of 20 mutations/polymorphisms in 12 cancer susceptibility genes in Dupuytren's patients and controls showed a statistically significant association of one mutation with Dupuytren disease: D312M in XPD (OR = 1.75, p = 0.004). We observed a tendency toward changed frequencies of occurrence of central nervous system tumors, laryngeal cancer and non-melanoma skin cancers in DD families. The results of our study indicate a lack of a strong association between Dupuytren disease and familial cancer risk. © 2014 Zyluk et al.; licensee BioMed Central Ltd.

DOI 10.1186/1897-4287-12-6
Citations Scopus - 1Web of Science - 1
2014 Masson AL, Talseth-Palmer BA, Evans TJ, Grice DM, Hannan GN, Scott RJ, 'Expanding the genetic basis of copy number variation in familial breast cancer', Hereditary Cancer in Clinical Practice, 12 (2014) [C1]

Introduction: Familial breast cancer (fBC) is generally associated with an early age of diagnosis and a higher frequency of disease among family members. Over the past two decades... [more]

Introduction: Familial breast cancer (fBC) is generally associated with an early age of diagnosis and a higher frequency of disease among family members. Over the past two decades a number of genes have been identified that are unequivocally associated with breast cancer (BC) risk but there remain a significant proportion of families that cannot be accounted for by these genes. Copy number variants (CNVs) are a form of genetic variation yet to be fully explored for their contribution to fBC. CNVs exert their effects by either being associated with whole or partial gene deletions or duplications and by interrupting epigenetic patterning thereby contributing to disease development. CNV analysis can also be used to identify new genes and loci which may be associated with disease risk.Methods: The Affymetrix Cytogenetic Whole Genome 2.7 M (Cyto2.7 M) arrays were used to detect regions of genomic re-arrangement in a cohort of 129 fBC BRCA1/BRCA2 mutation negative patients with a young age of diagnosis (<50 years) compared to 40 unaffected healthy controls (>55 years of age).Results: CNV analysis revealed the presence of 275 unique rearrangements that were not present in the control population suggestive of their involvement in BC risk. Several CNVs were found that have been previously reported as BC susceptibility genes. This included CNVs in RPA3, NBN (NBS1), MRE11A and CYP19A1 in five unrelated fBC patients suggesting that these genes are involved in BC initiation and/or progression. Of special interest was the identification of WWOX and FHIT rearrangements in three unrelated fBC patients.Conclusions: This study has identified a number of CNVs that potentially contribute to BC initiation and/or progression. The identification of CNVs that are associated with known tumour suppressor genes is of special interest that warrants further larger studies to understand their precise role in fBC. © 2014 Masson et al.; licensee BioMed Central Ltd.

DOI 10.1186/1897-4287-12-15
Citations Scopus - 7Web of Science - 7
Co-authors Bente Talseth-Palmer
2014 Scott RJ, Fox SB, Desai J, Grieu F, Amanuel B, Garrett K, et al., 'KRAS mutation testing of metastatic colorectal cancer in Australia: Where are we at?', Asia-Pacific Journal of Clinical Oncology, 10 261-265 (2014) [C1]

Aim: To carry out a nationwide study of KRAS testing in metastatic colorectal cancer as reported by nine major molecular pathology service providers in Australia, including mutati... [more]

Aim: To carry out a nationwide study of KRAS testing in metastatic colorectal cancer as reported by nine major molecular pathology service providers in Australia, including mutation frequencies and turnaround times that might impact on patient care. Methods: Participating laboratories contributed information on KRAS mutation frequencies, including the G13D mutation type, as well as turnaround times for tumor block retrieval and testing. Results: The KRAS mutation frequency observed by nine different test sites for a total of 3688 metastatic colorectal cancers ranged from 34.4% to 40.7%, with an average across all sites of 38.8%. The average frequency of the G13D mutation type among all cases was 8.0%. The median turnaround time was 17 days (range 0-191), with 20% of cases requiring more than 4 weeks for a KRAS test result. The major contributor to long turnaround times was the time taken to retrieve archived blocks of primary tumor, particularly from sources external to the test site. Conclusion: The frequency of KRAS mutations in metastatic colorectal cancer reported by the major Australian test sites is very similar to that reported by other large overseas studies. More widespread introduction of routine testing at the time of initial diagnosis should eliminate the long turnaround times currently being experienced in a significant proportion of cases. Future expansion of testing to include other KRAS and NRAS mutation hotspots may spur the introduction of next-generation sequencing platforms. © 2014 Wiley Publishing Asia Pty Ltd.

DOI 10.1111/ajco.12201
Citations Scopus - 1Web of Science - 2
2014 Moscovis SM, Hall ST, Burns CJ, Scott RJ, Blackwell CC, 'The male excess in sudden infant deaths', INNATE IMMUNITY, 20 24-29 (2014) [C1]
DOI 10.1177/1753425913481071
Citations Scopus - 11Web of Science - 11
Co-authors Caroline Blackwell, Sharron Hall
2014 Baines KJ, Simpson JL, Wood LG, Scott RJ, Fibbens NL, Powell H, et al., 'Sputum gene expression signature of 6 biomarkers discriminates asthma inflammatory phenotypes', Journal of Allergy and Clinical Immunology, 133 997-1007 (2014) [C1]

Background Airway inflammation is associated with asthma exacerbation risk, treatment response, and disease mechanisms. Objective This study aimed to identify and validate a sputu... [more]

Background Airway inflammation is associated with asthma exacerbation risk, treatment response, and disease mechanisms. Objective This study aimed to identify and validate a sputum gene expression signature that discriminates asthma inflammatory phenotypes. Methods An asthma phenotype biomarker discovery study generated gene expression profiles from induced sputum of 47 asthmatic patients. A clinical validation study (n = 59 asthmatic patients) confirmed differential expression of key genes. A 6-gene signature was identified and evaluated for reproducibility (n = 30 asthmatic patients and n = 20 control subjects) and prediction of inhaled corticosteroid (ICS) response (n = 71 asthmatic patients). Receiver operating characteristic curves were calculated, and area under the curve (AUC) values were reported. Results From 277 differentially expressed genes between asthma inflammatory phenotypes, we identified 23 genes that showed highly significant differential expression in both the discovery and validation populations. A signature of 6 genes, including Charcot-Leydon crystal protein (CLC); carboxypeptidase A3 (CPA3); deoxyribonuclease I-like 3 (DNASE1L3); IL-1ß (IL1B); alkaline phosphatase, tissue-nonspecific isozyme (ALPL); and chemokine (C-X-C motif) receptor 2 (CXCR2), was reproducible and could significantly (P <.0001) discriminate eosinophilic asthma from other phenotypes, including patients with noneosinophilic asthma (AUC, 89.6%), paucigranulocytic asthma (AUC, 92.6%), or neutrophilic asthma (AUC, 91.4%) and healthy control subjects (AUC, 97.6%), as well as discriminating patients with neutrophilic asthma from those with paucigranulocytic asthma (AUC, 85.7%) and healthy control subjects (AUC, 90.8). The 6-gene signature predicted ICS response (>12% change in FEV1; AUC, 91.5%). ICS treatment reduced the expression of CLC, CPA3, and DNASE1L3 in patients with eosinophilic asthma. Conclusions A sputum gene expression signature of 6 biomarkers reproducibly and significantly discriminates inflammatory phenotypes of asthma and predicts ICS treatment response. This signature has the potential to become a useful diagnostic tool to assist in the clinical diagnosis and management of asthma. © 2013 American Academy of Allergy, Asthma & Immunology.

DOI 10.1016/j.jaci.2013.12.1091
Citations Scopus - 49Web of Science - 50
Co-authors Peter Gibson, Jodie Simpson, Lisa Wood, Katherine Baines
2014 Gromowski T, Masojc B, Cybulski C, Górski B, Kluzniak W, Paszkowska-Szczur K, et al., 'Prevalence of the E318K and V320I MITF germline mutations in Polish cancer patients and multiorgan cancer risk-a population-based study', Cancer Genetics, (2014) [C1]

The E318K mutation in the MITF gene has been associated with a high risk of melanoma, renal cell carcinoma, and pancreatic cancer; the risk of other cancers has not been evaluated... [more]

The E318K mutation in the MITF gene has been associated with a high risk of melanoma, renal cell carcinoma, and pancreatic cancer; the risk of other cancers has not been evaluated so far. Herein, we examined the possible association of E318K and a novel variant of the MITF gene, V320I, with the risk of cancers of different sites of origin in a Polish population. We assayed for the presence of the E318K and V320I missense mutations in 4,226 patients with one of six various cancers (melanoma or cancer of the kidney, lung, prostate, colon, or breast) and 2,114 controls from Poland. The E318K mutation was detected in 4 of 2,114 participants (0.19%) in the Polish control population, the V320I in 3 of 2,114 participants (0.14%) in the control group. We found no statistically significant differences in the prevalence of the E318K and V320I variants among cases and controls. We found two carriers of the E318K variant among melanoma patients (P = 0.95), one carrier among breast cancer patients (P = 0.77), one carrier among colorectal cancer patients (P = 0.82), and one carrier among kidney cancer patients (P = 0.64). Our study demonstrates a lack of strong association of E318K and V320I with increased risk of melanoma or cancers of the kidney, breast, prostate, lung, or colon. © 2014 Elsevier Inc. All rights reserved.

DOI 10.1016/j.cancergen.2014.03.003
Citations Scopus - 4Web of Science - 5
2014 Shahijanian F, Parnell GP, McKay FC, Gatt PN, Shojoei M, O'Connor KS, et al., 'The CYP27B1 variant associated with an increased risk of autoimmune disease is underexpressed in tolerizing dendritic cells', HUMAN MOLECULAR GENETICS, 23 1425-1434 (2014) [C1]
DOI 10.1093/hmg/ddt529
Citations Web of Science - 15
Co-authors Jeannette Lechner-Scott, Pablo Moscato
2014 Goris A, van Setten J, Diekstra F, Ripke S, Patsopoulos NA, Sawcer SJ, et al., 'No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis', HUMAN MOLECULAR GENETICS, 23 1916-1922 (2014) [C1]
DOI 10.1093/hmg/ddt574
Citations Web of Science - 5
Co-authors Jeannette Lechner-Scott, Pablo Moscato
2014 Rudnicka H, Masojc B, van de Wetering T, Debniak T, Cybulski C, Gronwald J, et al., 'First recurrent large genomic rearrangement in the BRCA1 gene found in Poland', Cancer Epidemiology, (2014) [C1]

Mutation in the BRCA1 gene increases the risk of the person developing breast and/or ovarian cancer. The prevalence and spectrum of large genomic rearrangements (LGRs) varies cons... [more]

Mutation in the BRCA1 gene increases the risk of the person developing breast and/or ovarian cancer. The prevalence and spectrum of large genomic rearrangements (LGRs) varies considerably among different tested populations. In our previous study we described three LGRs in BRCA1 (exons 13-19, exon 17 and exon 22) in Polish families at high risk of breast and ovarian cancer. In this study we analyzed a group of 550 unselected women with ovarian cancer for the three previously identified LGRs. We used a rapid, single-step and closed-tube method: high-resolution melting analysis (HRMA). In this group of unrelated patients diagnosed with ovarian cancer we found three cases with the same deletions of exon 22. This is the first recurrent large deletion in BRCA1 found in Poland. We conclude that screening for the exon 22 deletion in BRCA1 should be included in the Polish BRCA1 genetic testing panel and possibly extended into other Slavic populations. © 2014 Elsevier Ltd. All rights reserved.

DOI 10.1016/j.canep.2014.05.010
2014 Avery-Kiejda KA, Braye SG, Mathe A, Forbes JF, Scott RJ, 'Decreased expression of key tumour suppressor microRNAs is associated with lymph node metastases in triple negative breast cancer', BMC Cancer, 14 (2014) [C1]

Background: Breast cancer is the most common malignancy that develops in women, responsible for the highest cancer-associated death rates. Triple negative breast cancers represent... [more]

Background: Breast cancer is the most common malignancy that develops in women, responsible for the highest cancer-associated death rates. Triple negative breast cancers represent an important subtype that have an aggressive clinical phenotype, are associated with a higher likelihood of metastasis and are not responsive to current targeted therapies. miRNAs have emerged as an attractive candidate for molecular biomarkers and treatment targets in breast cancer, but their role in the progression of triple negative breast cancer remains largely unexplored.Methods: This study has investigated miRNA expression profiles in 31 primary triple negative breast cancer cases and in 13 matched lymph node metastases compared with 23 matched normal breast tissues to determine miRNAs associated with the initiation of this disease subtype and those associated with its metastasis.Results: 71 miRNAs were differentially expressed in triple negative breast cancer, the majority of which have previously been associated with breast cancer, including members of the miR-200 family and the miR-17-92 oncogenic cluster, suggesting that the majority of miRNAs involved in the initiation of triple negative breast cancer are not subtype specific. However, the repertoire of miRNAs expressed in lymph node negative and lymph node positive triple negative breast cancers were largely distinct from one another. In particular, miRNA profiles associated with lymph node negative disease tended to be up-regulated, while those associated with lymph node positive disease were down-regulated and largely overlapped with the profiles of their matched lymph node metastases. From this, 27 miRNAs were identified that are associated with metastatic capability in the triple negative breast cancer subtype.Conclusions: These results provide novel insight into the repertoire of miRNAs that contribute to the initiation of and progression to lymph node metastasis in triple negative breast cancer and have important implications for the treatment of this breast cancer subtype. © 2014 Avery-Kiejda et al.; licensee BioMed Central Ltd.

DOI 10.1186/1471-2407-14-51
Citations Scopus - 30Web of Science - 29
Co-authors Kelly Kiejda, John Forbes
2014 Moscovis S, Hall S, Burns C, Scott R, Blackwell C, 'Development of an experimental model for assessing the effects of cigarette smoke and virus infections on inflammatory responses to bacterial antigens', Innate Immunity, 20 647-658 (2014) [C1]

Interactions among major risk factors associated with bacterial infections were assessed in a model system using surrogates for virus infection; IFN-g, and exposure to cigarette s... [more]

Interactions among major risk factors associated with bacterial infections were assessed in a model system using surrogates for virus infection; IFN-g, and exposure to cigarette smoke; cigarette smoke extract (CSE), nicotine and cotinine. Cytokine responses elicited by LPS from THP-1 cells in the presence of these components, or combinations of components, were assessed by multiplex bead assay, i.e. IL-1ß, IL-6, IL-8, IL-10, TNF-a and IFN-¿. IFN-¿-priming significantly increased pro-inflammatory cytokines induced by LPS. CSE suppressed production of pro-inflammatory cytokines IL-1ß, TNF-a and IFN-¿, but enhanced production of IL-8. Nicotine and cotinine suppressed all cytokine responses. In combination, IFN-¿ masked the inhibitory effects of CSE. In relation to the objectives of the study, we concluded that (a) IFN¿ at biologically relevant concentrations significantly enhanced pro-inflammatory responses; (b) CSE, nicotine and cotinine dysregulated the inflammatory response and that the effects of CSE were different from those of the individual components, nicotine and cotinine; (c) when both IFN-¿ and CSE were present, IFN-¿ masked the effect of CSE. There is a need for clinical investigations on the increase in IL-8 responses in relation to exposure to cigarette smoke and increased pro-inflammatory responses in relation to recent viral infection. © 2013 The Author(s).

DOI 10.1177/1753425913503893
Citations Scopus - 6Web of Science - 6
Co-authors Caroline Blackwell, Sharron Hall
2014 Avery-Kiejda KA, Morten B, Wong-Brown MW, Mathe A, Scott RJ, 'The relative mRNA expression of p53 isoforms in breast cancer is associated with clinical features and outcome.', Carcinogenesis, 35 586-596 (2014) [C1]
DOI 10.1093/carcin/bgt411
Citations Scopus - 21Web of Science - 22
Co-authors Kelly Kiejda, Michelle Wong-Brown
2014 Cox AJ, Moscovis SM, Blackwell CC, Scott RJ, 'Cytokine gene polymorphism among Indigenous Australians.', Innate Immun, 20 431-439 (2014) [C1]
DOI 10.1177/1753425913498911
Citations Scopus - 8Web of Science - 9
Co-authors Caroline Blackwell
2013 Masson AL, Talseth-Palmer BA, Evans T-J, Grice DM, Duesing K, Hannan GN, Scott RJ, 'Copy number variation in hereditary non-polyposis colorectal cancer', Genes, 4 536-555 (2013) [C1]
DOI 10.3390/genes4040536
Citations Scopus - 3Web of Science - 3
Co-authors Bente Talseth-Palmer
2013 Mechelli R, Umeton R, Policano C, Annibali V, Coarelli G, Ricigliano VAG, et al., 'A "Candidate-Interactome" Aggregate Analysis of Genome-Wide Association Data in Multiple Sclerosis', PLoS ONE, 8 (2013) [C1]
DOI 10.1371/journal.pone.0063300
Citations Scopus - 17
Co-authors Jeannette Lechner-Scott
2013 Köttgen A, Albrecht E, Teumer A, Vitart V, Krumsiek J, Hundertmark C, et al., 'Genome-wide association analyses identify 18 new loci associated with serum urate concentrations', Nature Genetics, 45 145-154 (2013)

Elevated serum urate concentrations can cause gout, a prevalent and painful inflammatory arthritis. By combining data from >140,000 individuals of European ancestry within the Glo... [more]

Elevated serum urate concentrations can cause gout, a prevalent and painful inflammatory arthritis. By combining data from >140,000 individuals of European ancestry within the Global Urate Genetics Consortium (GUGC), we identified and replicated 28 genome-wide significant loci in association with serum urate concentrations (18 new regions in or near TRIM46, INHBB, SFMBT1, TMEM171, VEGFA, BAZ1B, PRKAG2, STC1, HNF4G, A1CF, ATXN2, UBE2Q2, IGF1R, NFAT5, MAF, HLF, ACVR1B-ACVRL1 and B3GNT4). Associations for many of the loci were of similar magnitude in individuals of non-European ancestry. We further characterized these loci for associations with gout, transcript expression and the fractional excretion of urate. Network analyses implicate the inhibins-activins signaling pathways and glucose metabolism in systemic urate control. New candidate genes for serum urate concentration highlight the importance of metabolic control of urate production and excretion, which may have implications for the treatment and prevention of gout. © 2013 Nature America, Inc. All rights reserved.

DOI 10.1038/ng.2500
Co-authors John Attia, Liz Holliday, Christopher Oldmeadow
2013 Terwisscha van Scheltinga AF, Bakker SC, van Haren NEM, Derks EM, Buizer-Voskamp JE, Boos HBM, et al., 'Genetic Schizophrenia Risk Variants Jointly Modulate Total Brain and White Matter Volume', Biological Psychiatry, 73 525-531 (2013) [C1]
DOI 10.1016/j.biopsych.2012.08.017
Citations Scopus - 38
Co-authors Ulrich Schall, Pat Michie, Carmel Loughland, Frans Henskens
2013 Wong-Brown MW, McPhillips ML, Hipwell M, Pecenpetelovska G, Dooley S, Meldrum C, Scott RJ, 'cDNA analysis of the BRCA1 unclassified variant c.5194-12G > A', CLINICAL GENETICS, 84 505-506 (2013) [C3]
DOI 10.1111/cge.12052
Co-authors Michelle Wong-Brown
2013 Talseth-Palmer BA, Wijnen JT, Barker D, Vasen HFA, Scott RJ, 'Is the reported modifying effect of 8q23.3 and 11q23.1 on colorectal cancer risk for MLH1 mutation carriers valid? Reply', INTERNATIONAL JOURNAL OF CANCER, 133 1764-1764 (2013) [C3]
DOI 10.1002/ijc.28178
Co-authors Bente Talseth-Palmer
2013 Talseth-Palmer B, Wijnen JT, Brenne IS, Jagmohan-Changur S, Barker DJ, Ashton KA, et al., 'Combined analysis of three Lynch syndrome cohorts confirms the modifying effects of 8q23.3 and 11q23.1 in MLH1 mutation carriers', International Journal of Cancer, 132 1487-1729 (2013) [C1]
Citations Scopus - 12Web of Science - 12
Co-authors Bente Talseth-Palmer
2013 Titmarsh CJ, Moscovis SM, Hall S, Tzanakaki G, Kesanopoulos K, Xirogianni A, et al., 'Comparison of cytokine gene polymorphisms among Greek patients with invasive meningococcal disease or viral meningitis', JOURNAL OF MEDICAL MICROBIOLOGY, 62 694-700 (2013) [C1]
DOI 10.1099/jmm.0.058073-0
Citations Scopus - 7Web of Science - 7
Co-authors Caroline Blackwell, Sharron Hall
2013 Gardiner EJ, Cairns MJ, Liu B, Beveridge NJ, Carr V, Kelly B, et al., 'Gene expression analysis reveals schizophrenia-associated dysregulation of immune pathways in peripheral blood mononuclear cells', JOURNAL OF PSYCHIATRIC RESEARCH, 47 425-437 (2013) [C1]
DOI 10.1016/j.jpsychires.2012.11.007
Citations Scopus - 28Web of Science - 30
Co-authors Brian Kelly, Murray Cairns, Paul Tooney
2013 Van Scheltinga AFT, Bakker SC, Van Haren NEM, Derks EM, Buizer-Voskamp JE, Cahn W, et al., 'Schizophrenia genetic variants are not associated with intelligence', Psychological Medicine, 43 2563-2570 (2013) [C1]

Background Schizophrenia is associated with lower pre-morbid intelligence (IQ) in addition to (pre-morbid) cognitive decline. Both schizophrenia and IQ are highly heritable traits... [more]

Background Schizophrenia is associated with lower pre-morbid intelligence (IQ) in addition to (pre-morbid) cognitive decline. Both schizophrenia and IQ are highly heritable traits. Therefore, we hypothesized that genetic variants associated with schizophrenia, including copy number variants (CNVs) and a polygenic schizophrenia (risk) score (PSS), may influence intelligence. Method IQ was estimated with the Wechsler Adult Intelligence Scale (WAIS). CNVs were determined from single nucleotide polymorphism (SNP) data using the QuantiSNP and PennCNV algorithms. For the PSS, odds ratios for genome-wide SNP data were calculated in a sample collected by the Psychiatric Genome-Wide Association Study (GWAS) Consortium (8690 schizophrenia patients and 11 831 controls). These were used to calculate individual PSSs in our independent sample of 350 schizophrenia patients and 322 healthy controls. Results Although significantly more genes were disrupted by deletions in schizophrenia patients compared to controls (p = 0.009), there was no effect of CNV measures on IQ. The PSS was associated with disease status (R 2 = 0.055, p = 2.1 × 10 -7) and with IQ in the entire sample (R 2 = 0.018, p = 0.0008) but the effect on IQ disappeared after correction for disease status. Conclusions Our data suggest that rare and common schizophrenia-associated variants do not explain the variation in IQ in healthy subjects or in schizophrenia patients. Thus, reductions in IQ in schizophrenia patients may be secondary to other processes related to schizophrenia risk. © Cambridge University Press 2013.

DOI 10.1017/S0033291713000196
Citations Scopus - 17Web of Science - 15
Co-authors Ulrich Schall, Pat Michie, Frans Henskens, Carmel Loughland
2013 Yadav S, Cotlarciuc I, Munroe PB, Khan MS, Nalls MA, Bevan S, et al., 'Genome-Wide Analysis of Blood Pressure Variability and Ischemic Stroke', Stroke, 44 2703-2709 (2013) [C1]
DOI 10.1161/STROKEAHA.113.002186
Citations Scopus - 9Web of Science - 7
Co-authors Liz Holliday, John Attia, Mark Mcevoy
2013 Chen J, Pande M, Huang Y-J, Wei C, Amos CI, Talseth-Palmer BA, et al., 'Cell cycle-related genes as modifiers of age of onset of colorectal cancer in Lynch syndrome: a large-scale study in non-Hispanic white patients', CARCINOGENESIS, 34 299-306 (2013) [C1]
DOI 10.1093/carcin/bgs344
Citations Scopus - 5Web of Science - 5
Co-authors Bente Talseth-Palmer
2013 Schache M, Richardson AJ, Mitchell P, Wang JJ, Rochtchina E, Viswanathan AC, et al., 'Genetic association of refractive error and axial length with 15q14 but not 15q25 in the Blue Mountains Eye Study Cohort', Ophthalmology, 120 292-297 (2013) [C1]
Citations Scopus - 12Web of Science - 9
Co-authors Liz Holliday, John Attia
2013 Barzideh J, Scott RJ, Aitken RJ, 'Analysis of the global methylation status of human spermatozoa and its association with the tendency of these cells to enter apoptosis', ANDROLOGIA, 45 424-429 (2013) [C1]
DOI 10.1111/and.12033
Citations Scopus - 13Web of Science - 8
Co-authors John Aitken
2013 Acikyol B, Graham RM, Trinder D, House MJ, Olynyk JK, Scott RJ, et al., 'Brain transcriptome perturbations in the transferrin receptor 2 mutant mouse support the case for brain changes in iron loading disorders, including effects relating to long-term depression and long-term potentiation', Neuroscience, 235 119-128 (2013) [C1]
DOI 10.1016/j.neuroscience.2013.01.014
Citations Scopus - 8Web of Science - 9
Co-authors Liz Milward
2013 Williams FMK, Carter AM, Hysi PG, Surdulescu G, Hodgkiss D, Soranzo N, et al., 'Ischemic stroke is associated with the ABO locus: The EuroCLOT Study', Annals of Neurology, 73 16-31 (2013) [C1]
Citations Scopus - 45Web of Science - 45
Co-authors Liz Holliday, Christopher Levi, John Attia
2013 Greenop KR, Peters S, Bailey HD, Fritschi L, Attia J, Scott RJ, et al., 'Exposure to pesticides and the risk of childhood brain tumors', CANCER CAUSES & CONTROL, 24 1269-1278 (2013) [C1]
DOI 10.1007/s10552-013-0205-1
Citations Scopus - 17Web of Science - 16
Co-authors John Attia
2013 Milne E, Greenop KR, Scott RJ, De Klerk NH, Bower C, Ashton LJ, et al., 'Parental alcohol consumption and risk of childhood acute lymphoblastic leukemia and brain tumors', Cancer Causes and Control, 24 391-402 (2013) [C1]

Purpose: Childhood acute lymphoblastic leukemia (ALL) is the most common childhood malignancy and brain tumors (CBTs) are the leading cause of cancer death in children. In our Aus... [more]

Purpose: Childhood acute lymphoblastic leukemia (ALL) is the most common childhood malignancy and brain tumors (CBTs) are the leading cause of cancer death in children. In our Australian case-control studies of these cancers, we investigated whether parental alcohol consumption before or during pregnancy was associated with risk. Methods: Cases were identified through the ten Australian pediatric oncology centers, and controls were recruited through national random-digit dialling. Detailed information on alcohol consumption, including beverage type, amount, and timing, was collected from 690 case families (388 ALL and 302 CBT) and 1,396 control families. Data were analyzed using unconditional logistic regression. Results: We found no evidence that maternal alcohol use before or during pregnancy was associated with an increased risk of either cancer; rather, there was evidence of inverse associations, particularly with wine. For both cancers, we observed U-shaped associations with paternal alcohol consumption in the year before the pregnancy, possibly driven by reduced risk at moderate levels of beer and wine intake and increased risk associated with high levels of beer intake. Moderate intake of spirits by fathers was associated with an increased risk of CBT but not ALL. These findings would be strengthened by corroboration in other studies. While the inverse associations with wine may be interesting mechanistically, the public health message remains that maternal alcohol use during pregnancy causes serious disorders in the offspring and should be avoided. Conclusions: Our findings suggest that men, as well as women, should limit their alcohol intake when planning a pregnancy. © 2012 Springer Science+Business Media Dordrecht.

DOI 10.1007/s10552-012-0125-5
Citations Scopus - 16Web of Science - 16
2013 Lee SH, Harold D, Nyholt DR, Goddard ME, Zondervan KT, Williams J, et al., 'Estimation and partitioning of polygenic variation captured by common SNPs for Alzheimer's disease, multiple sclerosis and endometriosis', HUMAN MOLECULAR GENETICS, 22 832-841 (2013) [C1]
DOI 10.1093/hmg/dds491
Citations Scopus - 76Web of Science - 75
Co-authors Jeannette Lechner-Scott, Pablo Moscato
2013 Cortes A, Field J, Glazov EA, Hadler J, Stankovich J, Brown MA, 'Resequencing and fine-mapping of the chromosome 12q13-14 locus associated with multiple sclerosis refines the number of implicated genes', HUMAN MOLECULAR GENETICS, 22 2283-2292 (2013) [C1]
DOI 10.1093/hmg/ddt062
Citations Scopus - 12Web of Science - 10
Co-authors Pablo Moscato, Jeannette Lechner-Scott
2013 Kottgen A, Albrecht E, Teumer A, Vitart V, Krumsiek J, Hundertmark C, et al., 'Genome-wide association analyses identify 18 new loci associated with serum urate concentrations', Nature Genetics, 45 145-154 (2013) [C1]
Citations Scopus - 186Web of Science - 177
Co-authors Christopher Oldmeadow, Liz Holliday, John Attia
2013 Rietveld CA, Medland SE, Derringer J, Yang J, Esko T, Martin NW, et al., 'GWAS of 126,559 individuals identifies genetic variants associated with educational attainment', Science, 340 1467-1471 (2013) [C1]
Citations Scopus - 208Web of Science - 196
Co-authors Christopher Oldmeadow, John Attia, Liz Holliday
2013 Paszkowska-Szczur K, Scott RJ, Serrano-Fernandez P, Mirecka A, Gapska P, Górski B, et al., 'Xeroderma pigmentosum genes and melanoma risk', International Journal of Cancer, 133 1094-1101 (2013) [C1]
DOI 10.1002/ijc.28123
Citations Scopus - 21Web of Science - 19
2013 Milne E, Greenop KR, Scott RJ, Ashton LJ, Cohn RJ, de Klerk NH, Armstrong BK, 'Parental smoking and risk of childhood brain tumors', International Journal of Cancer, 133 253-259 (2013) [C1]
DOI 10.1002/ijc.28004
Citations Scopus - 14Web of Science - 14
2013 Cox MB, Bowden NA, Scott RJ, Lechner-Scott J, 'Altered expression of the plasminogen activation pathway in peripheral blood mononuclear cells in multiple sclerosis: possible pathomechanism of matrix metalloproteinase activation', Multiple Sclerosis Journal, 19 1268-1274 (2013) [C1]
DOI 10.1177/1352458513475493
Citations Scopus - 2Web of Science - 1
Co-authors Jeannette Lechner-Scott, Nikola Bowden
2013 Green MJ, Cairns MJ, Wu J, Dragovic M, Jablensky A, Tooney PA, et al., 'Genome-wide supported variant MIR137 and severe negative symptoms predict membership of an impaired cognitive subtype of schizophrenia', MOLECULAR PSYCHIATRY, 18 774-780 (2013) [C1]
DOI 10.1038/mp.2012.84
Citations Scopus - 28Web of Science - 61
Co-authors Paul Tooney, Murray Cairns
2013 Green MJ, Cairns MJ, Wu J, Dragovic M, Jablensky A, Tooney PA, et al., 'Genome-wide supported variant MIR137 and severe negative symptoms predict membership of an impaired cognitive subtype of schizophrenia', Molecular Psychiatry, (2013) [C1]
DOI 10.1038/mp.2013.48
Citations Scopus - 38
Co-authors Paul Tooney, Murray Cairns
2013 Talseth-Palmer BA, Wijnen JT, Grice DM, Scott RJ, 'Genetic modifiers of cancer risk in Lynch syndrome: a review', FAMILIAL CANCER, 12 207-216 (2013) [C1]
DOI 10.1007/s10689-013-9614-2
Citations Scopus - 6Web of Science - 5
Co-authors Bente Talseth-Palmer
2013 Stambolian D, Wojciechowski R, Oexle K, Pirastu M, Li X, Raffel LJ, et al., 'Meta-analysis of genome-wide association studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive error', Human Molecular Genetics, 22 2754-2764 (2013) [C1]
Citations Scopus - 21Web of Science - 20
Co-authors Liz Holliday, John Attia
2013 Kumarasinghe N, Beveridge NJ, Gardiner E, Scott RJ, Yasawardene S, Perera A, et al., 'Gene expression profiling in treatment-naive schizophrenia patients identifies abnormalities in biological pathways involving AKT1 that are corrected by antipsychotic medication', INTERNATIONAL JOURNAL OF NEUROPSYCHOPHARMACOLOGY, 16 1483-1503 (2013) [C1]
DOI 10.1017/S1461145713000035
Citations Scopus - 20Web of Science - 20
Co-authors Ulrich Schall, Paul Tooney
2013 Bolton KA, Ross JP, Grice DM, Bowden NA, Holliday EG, Avery-Kiejda KA, Scott RJ, 'STaRRRT: a table of short tandem repeats in regulatory regions of the human genome', BMC GENOMICS, 14 (2013) [C1]
DOI 10.1186/1471-2164-14-795
Citations Scopus - 9Web of Science - 8
Co-authors Nikola Bowden, Kelly Kiejda, Liz Holliday
2013 Lener MR, Gupta S, Scott RJ, Tootsi M, Kulp M, Tammesoo M, et al., 'Can selenium levels act as a marker of colorectal cancer risk?', BMC Cancer, 13 xx-xx (2013) [C1]
DOI 10.1186/1471-2407-13-214
Citations Scopus - 13Web of Science - 11
2013 Schork AJ, Thompson WK, Pham P, Torkamani A, Roddey JC, Sullivan PF, et al., 'All SNPs Are Not Created Equal: Genome-Wide Association Studies Reveal a Consistent Pattern of Enrichment among Functionally Annotated SNPs', PLOS GENETICS, 9 (2013) [C1]
DOI 10.1371/journal.pgen.1003449
Citations Scopus - 94Web of Science - 89
Co-authors Ulrich Schall, Pat Michie, Frans Henskens, Carmel Loughland
2013 Talseth-Palmer BA, Wijnen JT, Andreassen EK, Barker D, Jagmohan-Changur S, Tops CM, et al., 'The importance of a large sample cohort for studies on modifier genes influencing disease severity in FAP patients.', Hered Cancer Clin Pract, 11 20 (2013) [C1]
DOI 10.1186/1897-4287-11-20
Citations Scopus - 5Web of Science - 4
Co-authors Bente Talseth-Palmer
2013 Talseth-Palmer B, Holliday EG, Evans T-J, McEvoy MA, Attia JR, Grice DM, et al., 'Continuing difficulties in interpreting CNV data: Lessons from a genome-wide CNV association study of Australian HNPCC/lynch syndrome patients', BMC Medical Genomics, 6 1-13 (2013) [C1]
Citations Scopus - 9Web of Science - 8
Co-authors John Attia, Mark Mcevoy, Bente Talseth-Palmer, Liz Holliday
2013 Lin R, Charlesworth J, Stankovich J, Perreau VM, Brown MA, Taylor BV, Moscato P, 'Identity-by-Descent Mapping to Detect Rare Variants Conferring Susceptibility to Multiple Sclerosis', PLOS ONE, 8 (2013) [C1]
DOI 10.1371/journal.pone.0056379
Citations Scopus - 11Web of Science - 8
Co-authors Pablo Moscato
2013 Bowden NA, Ashton KA, Vilain RE, Avery-Kiejda KA, Davey RJ, Murray HC, et al., 'Regulators of Global Genome Repair Do Not Respond to DNA Damaging Therapy but Correlate with Survival in Melanoma', PLOS ONE, 8 (2013) [C1]
DOI 10.1371/journal.pone.0070424
Citations Scopus - 1Web of Science - 1
Co-authors Kelly Kiejda, Xu Zhang, Nikola Bowden
2013 Picelli S, Lorenzo Bermejo J, Chang-Claude J, Hoffmeister M, Fernandez-Rozadilla C, Carracedo A, et al., 'Meta-Analysis of Mismatch Repair Polymorphisms within the Cogent Consortium for Colorectal Cancer Susceptibility', PLOS ONE, 8 (2013) [C1]
DOI 10.1371/journal.pone.0072091
Citations Scopus - 9Web of Science - 10
Co-authors Bente Talseth-Palmer
2013 Sun C, Young TL, Mackey DA, Van Zuydam NR, Doney ASF, Palmer CNA, et al., 'Genetic loci for retinal arteriolar microcirculation', PLoS One, 8 e65804 (2013) [C1]
Citations Scopus - 5Web of Science - 5
Co-authors John Attia, Liz Holliday
2013 Jensen RA, Sim X, Li X, Cotch MF, Ikram MK, Holliday EG, et al., 'Genome-wide association study of retinopathy in individuals without diabetes', PLoS One, 8 e54232 (2013) [C1]
Citations Scopus - 6Web of Science - 6
Co-authors John Attia, Liz Holliday
2013 Holliday EG, Smith AV, Cornes BK, Buitendijk GHS, Jensen RA, Sim X, et al., 'Insights into the genetic architecture of early stage age-related macular degeneration: A genome-wide association study meta-analysis', PLoS One, 8 e53830 (2013) [C1]
Citations Scopus - 53Web of Science - 48
Co-authors John Attia, Patrick Mcelduff, Liz Holliday
2013 Johnstone DM, Riveros C, Heidari M, Graham RM, Trinder D, Berretta R, et al., 'Evaluation of Different Normalization and Analysis Procedures for Illumina Gene Expression Microarray Data Involving Small Changes', Microarrays, 2 131-152 (2013) [C1]
Co-authors Regina Berretta, Liz Milward, Carlos Riveros, Pablo Moscato
2012 Milne E, Greenop KR, Scott R, Bailey HD, Attia JR, Dalla-Pozza L, et al., 'Parental prenatal smoking and risk of childhood acute lymphoblastic leukemia', American Journal of Epidemiology, 175 43-53 (2012) [C1]
Citations Scopus - 48Web of Science - 41
Co-authors John Attia
2012 Johnstone DM, Graham RM, Trinder D, Delima RD, Riveros RC, Olynyk JK, et al., 'Brain transcriptome perturbations in the Hfe(-/-) mouse model of genetic iron loading', Brain Research, 1448 144-152 (2012) [C1]
DOI 10.1016/j.brainres.2012.02.006
Citations Scopus - 11Web of Science - 11
Co-authors Liz Milward, Carlos Riveros, Pablo Moscato
2012 Van Der Luijt RB, Devilee P, Easton DF, Peock S, Frost D, Platte R, et al., 'Association of PHB 1630 C > T and MTHFR 677 C > T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study', British Journal of Cancer, 106 2016-2024 (2012) [C1]
Citations Scopus - 14Web of Science - 13
2012 Lill CM, Liu T, Schjeide B-MM, Roehr JT, Akkad DA, Damotte V, et al., 'Closing the case of APOE in multiple sclerosis: no association with disease risk in over 29 000 subjects', Journal of Medical Genetics, 49 558-562 (2012) [C1]
Citations Scopus - 14Web of Science - 14
Co-authors Jeannette Lechner-Scott, Pablo Moscato
2012 Ashton KA, Scurry JP, Rutherford J, Otton GR, Scott R, Bowden NA, 'Nodular prurigo of the vulva', Pathology, 44 565-567 (2012) [C3]
Citations Scopus - 3Web of Science - 2
Co-authors Nikola Bowden
2012 Young KMN, Scurry JP, Jaaback KS, Bowden NA, Scott R, 'Bilateral dysgerminoma associated with gonadoblastoma and sex-cord stromal tumour with annular tubules in a 28-year-old fertile woman with normal karyotype', Pathology, 44 257-260 (2012) [C3]
Citations Scopus - 3Web of Science - 2
Co-authors Nikola Bowden
2012 Cheng YC, Anderson CD, Bione S, Keene K, Maguire JM, Nalls M, et al., 'Are myocardial infarction-associated single-nucleotide polymorphisms associated with ischemic stroke?', Stroke, 43 980-U143 (2012) [C1]
Citations Scopus - 16Web of Science - 17
Co-authors Lisa Lincz, Liz Holliday, Christopher Levi, Pablo Moscato, John Attia
2012 Bailey HD, Miller M, Langridge A, De Klerk NH, Van Bockxmeer FM, Attia JR, et al., 'Maternal dietary intake of folate and vitamins B6 and B12 during pregnancy and the risk of childhood acute lymphoblastic leukemia', Nutrition and Cancer, 64 1122-1130 (2012) [C1]
DOI 10.1080/01635581.2012.707278
Citations Scopus - 22Web of Science - 19
Co-authors John Attia
2012 Smith CJ, Bensing S, Burns C, Robinson PJ, Kasperlik-Zaluska AA, Scott R, et al., 'Identification of TPIT and other novel autoantigens in lymphocytic hypophysitis; immunoscreening of a pituitary cDNA library and development of immunoprecipitation assays', European Journal of Endocrinology, 166 391-398 (2012) [C1]
Citations Scopus - 26Web of Science - 24
2012 Orsi L, Rudant J, Bonaventure A, Goujon-Bellec S, Corda E, Evans T-J, et al., 'Genetic polymorphisms and childhood acute lymphoblastic leukemia: GWAS of the ESCALE study (SFCE)', Leukemia, 26 2561-2564 (2012) [C1]
Citations Scopus - 38Web of Science - 35
2012 Talseth-Palmer B, Scott R, Vasen HFA, Wijnen JT, '8q23.3 and 11q23.1 as modifying loci influencing the risk for CRC in Lynch syndrome', European Journal of Human Genetics, 20 487-488 (2012) [C3]
Citations Scopus - 3Web of Science - 3
Co-authors Bente Talseth-Palmer
2012 Milne E, Greenop KR, Bower C, Miller M, Van Bockxmeer FM, Scott R, et al., 'Maternal use of folic acid and other supplements and risk of childhood brain tumors', Cancer Epidemiology Biomarkers and Prevention, 21 1933-1941 (2012) [C1]
Citations Scopus - 32Web of Science - 30
2012 Long J, Zheng W, Xiang Y-B, Lose F, Thompson D, Tomlinson I, et al., 'Genome-wide association study identifies a possible susceptibility locus for endometrial cancer', Cancer Epidemiology, Biomarkers & Prevention, 21 980-987 (2012) [C1]
Citations Scopus - 22Web of Science - 21
2012 Nyholt DR, Low S-K, Anderson CA, Painter JN, Uno S, Morris AP, et al., 'Genome-wide association meta-analysis identifies new endometriosis risk loci', Nature Genetics, 44 1355-1359 (2012) [C1]
Citations Scopus - 110Web of Science - 95
Co-authors Mark Mcevoy, John Attia, Liz Holliday
2012 Holliday EG, Maguire JM, Evans T-J, Koblar SA, Jannes J, Sturm J, et al., 'Common variants at 6p21.1 are associated with large artery atherosclerotic stroke', Nature Genetics, 44 1147-1153 (2012) [C1]
Citations Scopus - 81Web of Science - 78
Co-authors Roseanne Peel, Wayne Smith, John Attia, Mark Parsons, Christopher Oldmeadow, Mark Mcevoy, Lisa Lincz, Liz Holliday, Christopher Levi, Pablo Moscato
2012 Okada Y, Sim X, Go MJ, Wu J-Y, Gu D, Takeuchi F, et al., 'Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations', Nature Genetics, 44 904-909 (2012) [C1]
Citations Scopus - 81Web of Science - 84
Co-authors John Attia, Liz Holliday, Christopher Oldmeadow
2012 Gardiner EJ, Beveridge NJ, Wu JQ, Carr VJ, Scott R, Tooney PA, Cairns MJ, 'Imprinted DLK1-DIO3 region of 14q32 defines a schizophrenia-associated miRNA signature in peripheral blood mononuclear cells', Molecular Psychiatry, 17 827-840 (2012) [C1]
Citations Scopus - 96Web of Science - 89
Co-authors Paul Tooney, Murray Cairns
2012 Johnstone DM, Graham RM, Trinder D, Riveros RC, Olynyk JK, Scott R, et al., 'Changes in brain transcripts related to Alzheimer's disease in a model of HFE hemochromatosis are not consistent with increased Alzheimer's disease risk', Journal of Alzheimers Disease, 30 791-803 (2012) [C1]
Citations Scopus - 6Web of Science - 5
Co-authors Liz Milward, Pablo Moscato, Carlos Riveros
2012 Yan J, Liu J, Lin CY, Scott R, Lechner-Scott J, Brown MA, et al., 'Interleukin-6 gene promoter-572 C allele may play a role in rate of disease progression in multiple sclerosis', International Journal of Molecular Sciences, 13 13667-13679 (2012) [C1]
DOI 10.3390/ijms131013667
Citations Scopus - 6Web of Science - 6
Co-authors Pablo Moscato, Jeannette Lechner-Scott
2012 Mathers JC, Movahedi M, Macrae F, Mecklin J-P, Moeslein G, Olschwang S, et al., 'Long-term effect of resistant starch on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial', LANCET ONCOLOGY, 13 1242-1249 (2012) [C1]
DOI 10.1016/S1470-2045(12)70475-8
Citations Scopus - 40Web of Science - 31
2012 Cox MB, Ban M, Bowden NA, Baker A, Scott R, Lechner-Scott J, 'Potential association of vitamin D receptor polymorphism Taq1 with multiple sclerosis', Multiple Sclerosis Journal, 18 16-22 (2012) [C1]
DOI 10.1177/1352458511415562
Citations Scopus - 26Web of Science - 23
Co-authors Nikola Bowden, Jeannette Lechner-Scott
2012 Reeves SG, Meldrum C, Groombridge C, Spigelman A, Suchy J, Kurzawski G, et al., 'DNA repair gene polymorphisms and risk of early onset colorectal cancer in Lynch syndrome', Cancer Epidemiology, 36 183-189 (2012) [C1]
Citations Scopus - 13Web of Science - 11
2012 Kurzawski G, Dymerska D, Serrano-Fernandez P, Trubicka J, Masojc BO, Jakubowska A, Scott R, 'DNA and RNA analyses in detection of genetic predisposition to cancer', Hereditary Cancer in Clinical Practice, 10 17 (2012) [C1]
2012 Kim K-T, Carroll AP, Mashkani B, Cairns MJ, Small D, Scott R, 'MicroRNA-16 Is down-regulated in mutated FLT3 expressing murine myeloid FDC-P1 cells and interacts with Pim-1', PLOS One, 7 e44546 (2012) [C1]
Citations Scopus - 10Web of Science - 3
Co-authors Murray Cairns
2012 Wu JQ, Wang X, Beveridge NJ, Tooney PA, Scott R, Carr VJ, Cairns MJ, 'Transcriptome sequencing revealed significant alteration of cortical promoter usage and splicing in schizophrenia', PLoS One, 7 e36351-e36351 (2012) [C1]
DOI 10.1371/journal.pone.0036351
Citations Scopus - 32Web of Science - 33
Co-authors Murray Cairns, Paul Tooney
2012 Kim K-T, Mossman D, Small D, Scott R, 'Gene expression profiling of human myeloid leukemic MV4-11 cells treated with 5-Aza-2-deoxycytidine', Journal of Cancer Therapy, 3 177-182 (2012) [C1]
2011 Ritchie ME, Ruijie L, Carvalho BS, Irizarry RA, Bahlo M, Booth DR, et al., 'Comparing genotyping algorithms for Illumina's Infinium whole-genome SNP BeadChips', BMC Bioinformatics, 12 68-79 (2011) [C1]
DOI 10.1186/1471-2105-12-68
Citations Scopus - 20Web of Science - 22
Co-authors Pablo Moscato, Jeannette Lechner-Scott
2011 Kiejda KA, Bowden NA, Croft AJ, Scurr LL, Kairupan CF, Ashton KA, et al., 'P53 in human melanoma fails to regulate target genes associated with apoptosis and the cell cycle and may contribute to proliferation', BMC Cancer, 11 203-219 (2011) [C1]
DOI 10.1186/1471-2407-11-203
Citations Scopus - 46Web of Science - 39
Co-authors Bente Talseth-Palmer, Xu Zhang, Kelly Kiejda, Nikola Bowden
2011 Hondow HL, Fox SB, Mitchell G, Scott R, Beshay V, Wong SQ, et al., 'A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes', BMC Cancer, 11 265 (2011) [C1]
DOI 10.1186/1471-2407-11-265
Citations Scopus - 18Web of Science - 14
2011 Patsopoulos NA, De Bakker PIW, Esposito F, Reischl J, Lehr S, Bauer D, et al., 'Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci', Annals of Neurology, 70 897-912 (2011) [C1]
DOI 10.1002/ana.22609
Citations Scopus - 178Web of Science - 162
Co-authors Jeannette Lechner-Scott, Pablo Moscato
2011 Talseth-Palmer B, Scott R, 'Genetic variation and its role in malignancy', International Journal of Biomedical Science, 7 158-171 (2011) [C1]
Citations Scopus - 2
Co-authors Bente Talseth-Palmer
2011 De Bakker PIW, Kappos L, Polman CH, Chibnik LB, Hafler DA, Matthews PM, et al., 'Modeling the cumulative genetic risk for multiple sclerosis from genome-wide association data', Genome Medicine, 3 1-11 (2011) [C1]
DOI 10.1186/gm217
Citations Scopus - 43
Co-authors Jeannette Lechner-Scott, Pablo Moscato
2011 Mossman D, Scott R, 'Long term transcriptional reactivation of epigenetically silenced genes in colorectal cancer cells requires DNA hypomethylation and histone acetylation', PLoS ONE, 6 e23127 (2011) [C1]
DOI 10.1371/journal.pone.0023127
Citations Scopus - 28Web of Science - 20
2011 Jaworowska E, Trubicka J, Lener MR, Masojc B, Zlowocka-Perlowska E, McKay JD, et al., 'Smoking related cancers and loci at chromosomes 15q25, 5p15, 6p22.1 and 6p21.33 in the Polish population', PLoS ONE, 6 e25057 (2011) [C1]
DOI 10.1371/journal.pone.0025057
Citations Scopus - 20Web of Science - 20
2011 Ma GZM, Stankovich J, Kilpatrick TJ, Binder MD, Field J, Bahlo M, et al., 'Polymorphisms in the receptor tyrosine kinase MERTK gene are associated with multiple sclerosis susceptibility', PLoS ONE, 6 1-6 (2011) [C1]
DOI 10.1371/journal.pone.0016964
Citations Scopus - 17Web of Science - 13
Co-authors Jeannette Lechner-Scott, Pablo Moscato
2011 Vilain RE, Dudding TE, Braye SG, Groombridge C, Meldrum C, Spigelman AD, et al., 'Can a familial gastrointestinal tumour syndrome be allelic with Waardenburg syndrome?', Clinical Genetics, 79 554-560 (2011) [C3]
DOI 10.1111/j.1399-0004.2010.01489.x
Citations Scopus - 9Web of Science - 7
Co-authors T Dudding, Stephen Ackland, Leonie Ashman
2011 Talseth-Palmer B, Brenne IS, Ashton KA, Evans T-J, McPhillips M, Groombridge C, et al., 'Colorectal cancer susceptibility loci on chromosome 8q23.3 and 11q23.1 as modifiers for disease expression in lynch syndrome', Journal of Medical Genetics, 48 279-284 (2011) [C1]
DOI 10.1136/jmg.2010.079962
Citations Scopus - 31Web of Science - 25
Co-authors Bente Talseth-Palmer
2011 Zacharin M, Bajpai A, Chow CW, Catto-Smith A, Stratakis C, Wong-Brown M, Scott R, 'Gastrointestinal polyps in McCune Albright syndrome', Journal of Medical Genetics, 48 458-461 (2011) [C1]
DOI 10.1136/jmg.2010.086330
Citations Scopus - 11Web of Science - 10
Co-authors Michelle Wong-Brown
2011 O'Gorman C, Freeman S, Taylor BV, Butzkueven H, Broadley SA, Bahlo M, et al., 'Familial recurrence risks for multiple sclerosis in Australia', Journal of Neurology, Neurosurgery and Psychiatry, 82 1351-1354 (2011) [C1]
DOI 10.1136/jnnp.2010.233064
Citations Scopus - 10Web of Science - 10
Co-authors Jeannette Lechner-Scott, Pablo Moscato
2011 Bailey HD, Armstrong BK, De Klerk NH, Fritschi L, Attia JR, Scott R, et al., 'Exposure to professional pest control treatments and the risk of childhood acute lymphoblastic leukemia', International Journal of Cancer, 129 1678-1688 (2011) [C1]
Citations Scopus - 16Web of Science - 17
Co-authors John Attia
2011 The International Multiple Sclerosis Consortium, Control TWTC, Cox MB, Lechner-Scott J, Scott R, 'Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis', Nature, 476 214-219 (2011) [C1]
Citations Scopus - 1196Web of Science - 1078
Co-authors Jeannette Lechner-Scott
2011 Baines KJ, Simpson JL, Wood LG, Scott R, Gibson PG, 'Systemic upregulation of neutrophil a-defensins and serine proteases in neutrophilic asthma', Thorax, 66 942-947 (2011) [C1]
Citations Scopus - 34Web of Science - 31
Co-authors Peter Gibson, Katherine Baines, Lisa Wood, Jodie Simpson
2011 Baines KJ, Simpson JL, Wood LG, Scott R, Gibson PG, 'Transcriptional phenotypes of asthma defined by gene expression profiling of induced sputum samples', Journal of Allergy and Clinical Immunology, 127 153.e9-160.e9 (2011) [C1]
DOI 10.1016/j.jaci.2010.10.024
Citations Scopus - 107Web of Science - 98
Co-authors Lisa Wood, Jodie Simpson, Katherine Baines, Peter Gibson
2011 Kiejda KA, Wong-Brown M, Scott R, 'Genetic markers in breast cancer - How far have we come from BRCA1?', Asia-Pacific Journal of Molecular Medicine, 1 1-15 (2011) [C1]
Co-authors Kelly Kiejda, Michelle Wong-Brown
2011 Burn J, Gerdes A-M, Macrae F, Mecklin JP, Moeslein G, Olschwang S, et al., 'Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: An analysis from the CAPP2 randomised controlled trial', Lancet, 378 2081-2087 (2011) [C1]
DOI 10.1016/S0140-6736(11)61049-0
Citations Scopus - 355Web of Science - 288
2011 Wong-Brown M, Nordfors C, Mossman D, Pecenpetelovska G, Kiejda KA, Talseth-Palmer B, et al., 'BRIP1, PALB2, and RAD51C mutation analysis reveals their relative importance as genetic susceptibility factors for breast cancer', Breast Cancer Research and Treatment, 127 853-859 (2011) [C1]
DOI 10.1007/s10549-011-1443-0
Citations Scopus - 61Web of Science - 55
Co-authors Michelle Wong-Brown, Nikola Bowden, Bente Talseth-Palmer, Kelly Kiejda
2011 Yotova V, Lefebvre J-F, Moreau C, Gbeha E, Hovhannesyan K, Bourgeois S, et al., 'An X-linked haplotype of Neandertal origin is present among all non-African populations', Molecular Biology and Evolution, 28 1957-1962 (2011) [C1]
DOI 10.1093/molbev/msr024
Citations Scopus - 26Web of Science - 28
2011 Oldmeadow CJ, Riveros RC, Holliday EG, Scott R, Moscato PA, Wang JJ, et al., 'Sifting the wheat from the chaff: Prioritizing GWAS results by identifying consistency across analytical methods', Genetic Epidemiology, 35 745-754 (2011) [C1]
DOI 10.1002/gepi.20622
Citations Scopus - 7Web of Science - 6
Co-authors Pablo Moscato, Liz Holliday, Christopher Oldmeadow, John Attia, Carlos Riveros
2011 Milne E, Royle JA, Bennett LC, De Klerk NH, Bailey HD, Bower C, et al., 'Maternal consumption of coffee and tea during pregnancy and risk of childhood ALL: Results from an Australian case-control study', Cancer Causes & Control, 22 207-218 (2011) [C1]
DOI 10.1007/s10552-010-9688-1
Citations Scopus - 11Web of Science - 10
Co-authors John Attia
2011 Maguire JM, Thakkinstian A, Levi CR, Lincz L, Bisset L, Sturm J, et al., 'Impact of COX-2 rs5275 and rs20417 and GPIIIa rs5918 polymorphisms on 90-day ischemic stroke functional outcome: A novel finding', Journal of Stroke and Cerebrovascular Diseases, 20 134-144 (2011) [C1]
DOI 10.1016/j.jstrokecerebrovasdis.2009.10.011
Citations Scopus - 31Web of Science - 31
Co-authors Christopher Levi, John Attia, Lisa Lincz
2011 Gwas Consortium, Henskens FA, Loughland CM, Michie PT, Schall UA, Scott R, 'Genome-wide association study identifies five new schizophrenia loci', Nature Genetics, 43 969-U77 (2011) [C1]
Citations Scopus - 944Web of Science - 565
Co-authors Carmel Loughland, Ulrich Schall, Frans Henskens, Pat Michie
2011 Australian Ntl Endometrial Cancer Study Group, Scott R, Ashton KA, Proietto AM, Otton GR, Ntl Study Of Endometrical Cancer Genetics Group, 'Genome-wide association study identifies a common variant associated with risk of endometrial cancer', Nature Genetics, 43 451-455 (2011) [C1]
DOI 10.1038/ng.812
Citations Scopus - 78Web of Science - 72
2011 Khor CC, Davila S, Breunis WB, Lee YC, Shimizu C, Wright VJ, et al., 'Genome-wide association study identifies FCGR2A as a susceptibility locus for Kawasaki disease', Nature Genetics, 43 1241-1248 (2011) [C1]
Citations Scopus - 132Web of Science - 115
Co-authors Liz Holliday, John Attia
2010 Dymerska D, Serrano-Fernandez P, Suchy J, Plawski A, Slomski R, Kaklewski K, et al., 'Combined iPLEX and TaqMan assays to screen for 45 common mutations in Lynch Syndrome and FAP patients', Journal of Molecular Diagnostics, 12 82-90 (2010) [C1]
DOI 10.2353/jmoldx.2010.090063
Citations Scopus - 2Web of Science - 2
2010 Attia JR, Thakkinstian A, McElduff P, Milne E, Dawson S, Scott R, et al., 'Detecting genotyping error using measures of degree of Hardy-Weinberg disequilibrium', Statistical Applications in Genetics and Molecular Biology, 9 17 (2010) [C1]
DOI 10.2202/1544-6115.1463
Citations Scopus - 10Web of Science - 6
Co-authors Patrick Mcelduff, John Attia
2010 Ikram MK, Xueling S, Jensen RA, Cotch MF, Hewitt AW, Ikram MA, et al., 'Four Novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation In Vivo', Plos Genetics, 6 1-12 (2010) [C1]
DOI 10.1371/journal.pgen.1001184
Citations Scopus - 70Web of Science - 65
Co-authors John Attia, Liz Holliday
2010 Talseth-Palmer B, McPhillips M, Groombridge C, Spigelman A, Scott R, 'MSH6 and PMS2 mutation positive Australian Lynch syndrome families: Novel mutations, cancer risk and age of diagnosis of colorectal cancer', Hereditary Cancer in Clinical Practice, 8 1-10 (2010) [C1]
DOI 10.1186/1897-4287-8-5
Citations Scopus - 14Web of Science - 14
Co-authors Bente Talseth-Palmer
2010 Proietto AM, Otton GR, Symonds IM, McEvoy MA, Attia JR, Gilbert M, et al., 'Polymorphisms in genes of the steroid hormone biosynthesis and metabolism pathways and endometrial cancer risk', Cancer Epidemiology, 34 328-337 (2010) [C1]
DOI 10.1016/j.canep.2010.03.005
Citations Scopus - 36Web of Science - 37
Co-authors Ian Symonds, John Attia, Mark Mcevoy
2010 Jensen CJ, Stankovich J, Van der Walt A, Bahlo M, Taylor BV, van der Mei IAF, et al., 'Multiple Sclerosis Susceptibility-Associated SNPs Do Not Influence Disease Severity Measures in a Cohort of Australian MS Patients', PLOS ONE, 5 (2010) [C1]
DOI 10.1371/journal.pone.0010003
Citations Scopus - 28Web of Science - 24
Co-authors Pablo Moscato, Jeannette Lechner-Scott
2010 Cox MB, Cairns MJ, Gandhi KS, Carroll AP, Moscovis CC, Stewart GJ, et al., 'MicroRNAs miR-17 and miR-20a inhibit T cell activation genes and are under-expressed in MS whole blood', Plos One, 5 e12132 (2010) [C1]
DOI 10.1371/journal.pone.0012132
Citations Scopus - 127Web of Science - 106
Co-authors Pablo Moscato, Jeannette Lechner-Scott, Murray Cairns
2010 Riveros RC, Mellor D, Gandhi KS, McKay FC, Cox MB, Berretta RE, et al., 'A transcription factor map as revealed by a genome-wide gene expression analysis of whole-blood mRNA transcriptome in multiple sclerosis', Plos One, 5 1-28 (2010) [C1]
DOI 10.1371/journal.pone.0014176
Citations Scopus - 28Web of Science - 26
Co-authors Pablo Moscato, Regina Berretta, Carlos Riveros, Jeannette Lechner-Scott
2010 Tomlinson IPM, Dunlop M, Campbell H, Zanke B, Gallinger S, Hudson T, et al., 'Erratum: COGENT (COlorectal cancer GENeTics): An international consortium to study the role of polymorphic variation on the risk of colorectal cancer (British Journal of Cancer 102 (447-454) DOI: 10.1038/sj.bjc.6605338))', British Journal of Cancer, 102 455 (2010)
DOI 10.1038/sj.bjc.6605518
2010 Loughland CM, Draganic D, McCabe KL, Richards JM, Nasir MA, Allen J, et al., 'Australian Schizophrenia Research Bank: A database of comprehensive clinical, endophenotypic and genetic data for aetiological studies of schizophrenia', Australian and New Zealand Journal of Psychiatry, 44 1029-1035 (2010) [C1]
DOI 10.3109/00048674.2010.501758
Citations Web of Science - 35
Co-authors Pat Michie, Ulrich Schall, Paul Tooney, Carmel Loughland, Frans Henskens
2010 Field J, Browning SR, Johnson LJ, Danoy P, Varney MD, Tait BD, et al., 'A polymorphism in the HLA-DPB1 gene is associated with susceptibility to multiple sclerosis', PLoS ONE, 5 (2010) [C1]

We conducted an association study across the human leukocyte antigen (HLA) complex to identify loci associated with multiple sclerosis (MS). Comparing 1927 SNPs in 1618 MS cases a... [more]

We conducted an association study across the human leukocyte antigen (HLA) complex to identify loci associated with multiple sclerosis (MS). Comparing 1927 SNPs in 1618 MS cases and 3413 controls of European ancestry, we identified seven SNPs that were independently associated with MS conditional on the others (each P=4×10-6). All associations were significant in an independent replication cohort of 2212 cases and 2251 controls (P=0:001) and were highly significant in the combined dataset (P=6 × 10-8). The associated SNPs included proxies for HLA-DRB1*15:01 and HLA-DRB1*03:01, and SNPs in moderate linkage disequilibrium (LD) with HLA-A*02:01, HLA-DRB1*04:01 and HLA-DRB1*13:03. We also found a strong association with rs9277535 in the class II gene HLA-DPB1 (discovery set P = 9 × 10-9, replication set P = 7 × 10-4, combined P=2 × 10-10). HLA-DPB1 is located centromeric of the more commonly typed class II genes HLA-DRB1, -DQA1 and -DQB1. It is separated from these genes by a recombination hotspot, and the association is not affected by conditioning on genotypes at DRB1, DQA1 and DQB1. Hence rs9277535 represents an independent MS-susceptibility locus of genome-wide significance. It is correlated with the HLA-DPB1*03:01 allele, which has been implicated previously in MS in smaller studies. Further genotyping in large datasets is required to confirm and resolve this association. © 2010 Field et al.

DOI 10.1371/journal.pone.0013454
Citations Scopus - 29
Co-authors Jeannette Lechner-Scott, Pablo Moscato
2010 Bowden NA, Ashton KA, Kiejda KA, Zhang XD, Hersey P, Scott R, 'Nucleotide excision repair gene expression after cisplatin treatment in melanoma', Cancer Research, 70 7918-7926 (2010) [C1]
Citations Scopus - 12Web of Science - 11
Co-authors Xu Zhang, Nikola Bowden, Kelly Kiejda
2010 Holliday EG, Scott R, Attia JR, 'Evidence-based medicine in the era of biomarkers: Teaching a new dog old tricks?', Clinical Pharmacology and Therapeutics, 88 740-742 (2010) [C2]
DOI 10.1038/clpt.2010.214
Citations Scopus - 5Web of Science - 3
Co-authors John Attia, Liz Holliday
2010 Milne E, Royle JA, Miller M, Bower C, De Klerk NH, Bailey HD, et al., 'Maternal folate and other vitamin supplementation during pregnancy and risk of acute lymphoblastic leukemia in the offspring', International Journal of Cancer, 126 2690-2699 (2010) [C1]
DOI 10.1002/ijc.24969
Citations Scopus - 43Web of Science - 36
Co-authors John Attia
2010 Jakubowska A, Gronwald J, Menkiszak J, Gorski B, Huzarski T, Byrski T, et al., 'BRCA1-associated breast and ovarian cancer risks in Poland: No association with commonly studied polymorphisms', Breast Cancer Research and Treatment, 119 201-211 (2010) [C1]
DOI 10.1007/s10549-009-0390-5
Citations Scopus - 49Web of Science - 47
2010 Dudding TE, Lawrence O, Winship I, Froyen G, Vandewalle J, Scott R, Shelling AN, 'Array comparative genomic hybridization for the detection of submicroscopic copy number variations of the X chromosome in women with premature ovarian failure', Human Reproduction, 25 3159-3160 (2010) [C3]
Citations Scopus - 13Web of Science - 10
Co-authors T Dudding
2010 McEvoy MA, Smith WT, D'Este CA, Duke JM, Peel R, Schofield PW, et al., 'Cohort Profile: The Hunter Community Study', International Journal of Epidemiology, 39 1452-1463 (2010) [C1]
DOI 10.1093/ije/dyp343
Citations Scopus - 72Web of Science - 70
Co-authors Wayne Smith, Ben Ewald, Peter Schofield, Mark Mcevoy, Julie Byles, Catherine Deste, Mddah01, Roseanne Peel, John Attia
2010 Baines KJ, Simpson JL, Bowden NA, Scott R, Gibson PG, 'Differential gene expression and cytokine production from neutrophils in asthma phenotypes', European Respiratory Journal, 35 522-531 (2010) [C1]
DOI 10.1183/09031936.00027409
Citations Scopus - 45Web of Science - 38
Co-authors Jodie Simpson, Peter Gibson, Nikola Bowden, Katherine Baines
2010 Scott R, 'Genetics of colorectal cancers', VIRCHOWS ARCHIV, 457 101-102 (2010) [C1]
2010 Gandhi KS, McKay FC, Cox MB, Riveros RC, Armstrong N, Heard RN, et al., 'The multiple sclerosis whole blood mRNA transcriptome and genetic associations indicate dysregulation of specific T cell pathways in pathogenesis', Human Molecular Genetics, 19 2134-2143 (2010) [C1]
DOI 10.1093/hmg/ddq090
Citations Scopus - 58Web of Science - 55
Co-authors Carlos Riveros, Jeannette Lechner-Scott, Pablo Moscato
2010 Out AA, Tops CMJ, Nielsen M, Weiss MM, Van Minderhout IJHM, Fokkema IFAC, et al., 'Leiden Open Variation Database of the MUTYH Gene', Human Mutation, 31 1205-1215 (2010) [C1]
DOI 10.1002/humu.21343
Citations Scopus - 39Web of Science - 35
2010 Booth DR, Heard RN, Stewart GJ, Cox M, Scott R, Lechner-Scott J, et al., 'Lack of support for association between the KIF1B rs10492972[C] variant and multiple sclerosis', Nature Genetics, 42 469-470 (2010) [C3]
Citations Scopus - 20Web of Science - 17
Co-authors Jeannette Lechner-Scott
2010 Cox AJ, Gleeson M, Pyne DB, Callister R, Fricker PA, Scott R, 'Cytokine gene polymorphisms and risk for Upper Respiratory Symptoms in highly-trained athletes', Exercise Immunology Review, 16 8-21 (2010) [C1]
Citations Scopus - 17Web of Science - 14
Co-authors Robin Callister, Maree Gleeson
2010 Scott R, 'Have the roles of two functional polymorphisms in breast cancer, R72P in P53 and MDM2-309 in MDM2, become clearer?', Breast Cancer Research, 12 1-3 (2010) [C3]
DOI 10.1186/bcr2474
Citations Scopus - 1
2010 Esposito F, Patsopoulos NA, Cepok S, Kockum I, Leppa V, Booth DR, et al., 'IL12A, MPHOSPH9/CDK2AP1 and RGS1 are novel multiple sclerosis susceptibility loci', Genes and Immunity, 11 397-405 (2010) [C1]
DOI 10.1038/gene.2010.28
Citations Scopus - 42Web of Science - 34
Co-authors Jeannette Lechner-Scott
2010 Ashton KA, Proietto AM, Otton GR, Symonds IM, McEvoy MA, Attia JR, Scott R, 'Toll-Like Receptor (TLR) and Nucleosome-binding Oligomerization Domain (NOD) gene polymorphisms and endometrial cancer risk', BMC Cancer, 10 1-7 (2010) [C1]
DOI 10.1186/1471-2407-10-382
Citations Scopus - 31Web of Science - 28
Co-authors John Attia, Ian Symonds, Mark Mcevoy
2010 Mossman D, Kim K-T, Scott R, 'Demethylation by 5-aza-2'-deoxycytidine in colorectal cancer cells targets genomic DNA whilst promoter CpG island methylation persists', BMC Cancer, 10 1-10 (2010) [C1]
DOI 10.1186/1471-2407-10-366
Citations Scopus - 55Web of Science - 49
2010 Trubicka J, Grabowska-Klujszo E, Suchy J, Masojc B, Serrano-Fernandez P, Kurzawski G, et al., 'Variant alleles of the CYP1B1 gene are associated with colorectal cancer susceptibility', BMC Cancer, 10 1-6 (2010) [C1]
DOI 10.1186/1471-2407-10-420
Citations Scopus - 15Web of Science - 13
2009 Ashton KA, Proietto AM, Otton GR, Symonds IM, McEvoy MA, Attia JR, et al., 'Estrogen receptor polymorphisms and the risk of endometrial cancer', BJOG: An International Journal of Obstetrics and Gynaecology, 116 1053-1061 (2009) [C1]
DOI 10.1111/j.1471-0528.2009.02185.x
Citations Scopus - 35Web of Science - 30
Co-authors Ian Symonds, John Attia, Mark Mcevoy
2009 Whitehall V, Tran K, Umapathy A, Grieu F, Hewitt C, Evans T-J, et al., 'A Multicenter Blinded Study to Evaluate KRAS Mutation Testing Methodologies in the Clinical Setting', JOURNAL OF MOLECULAR DIAGNOSTICS, 11 543-552 (2009) [C1]
DOI 10.2353/jmoldx.2009.090057
Citations Scopus - 99Web of Science - 91
2009 Gapska P, Scott R, Serrano-Fernandez P, Huzarski T, Byrski T, Kladny J, et al., 'Vitamin D receptor variants and breast cancer risk in the Polish population', Breast Cancer Research and Treatment, 115 629-633 (2009) [C1]
DOI 10.1007/s10549-008-0107-1
Citations Scopus - 17Web of Science - 13
2009 Ashton KA, Proietto AM, Otton GR, Symonds IM, Scott R, 'Genetic variants in MUTYH are not associated with endometrial cancer risk', Hereditary Cancer in Clinical Practice, 7 1-5 (2009) [C1]
DOI 10.1186/1897-4287-7-3
Citations Scopus - 9Web of Science - 7
Co-authors Ian Symonds
2009 Lubinski J, Sijmons RH, Scott R, 'Hereditary cancer in clinical practice transfers to BioMed Central', Hereditary Cancer in Clinical Practice, 7 Article 1 (2009) [C3]
DOI 10.1186/1897-4287-7-1
2009 Gapska P, Scott R, Serrano-Fernandez P, Mirecka A, Rassoud I, Gorski B, et al., 'Vitamin D receptor variants and the malignant melanoma risk: A population-based study', Cancer Epidemiology, 33 103-107 (2009) [C1]
DOI 10.1016/j.canep.2009.06.006
Citations Scopus - 24Web of Science - 21
2009 Milne E, Royle JA, De Klerk NH, Blair E, Bailey H, Cole C, et al., 'Fetal growth and risk of childhood acute lymphoblastic leukemia: Results from an Australian case-control study', American Journal of Epidemiology, 170 221-228 (2009) [C1]
DOI 10.1093/aje/kwp117
Citations Scopus - 28Web of Science - 27
Co-authors John Attia
2009 Stankovich J, Butzkueven H, Marriott M, Chapman C, Tubridy N, Tait BD, et al., 'HLA-DRB1 associations with disease susceptibility and clinical course in Australians with multiple sclerosis', Tissue Antigens, 74 17-21 (2009)

Human leucocyte antigen (HLA)-DRB1*1501 and other class II alleles influence susceptibility to multiple sclerosis (MS), but their contribution if any to the clinical course of MS ... [more]

Human leucocyte antigen (HLA)-DRB1*1501 and other class II alleles influence susceptibility to multiple sclerosis (MS), but their contribution if any to the clinical course of MS remains uncertain. Here, we have investigated DRB1 alleles in a large sample of 1230 Australian MS cases, with some enrichment for subjects with primary progressive (PPMS) disease (n = 246) and 1210 healthy controls. Using logistic regression, we found that DRB1*1501 was strongly associated with risk (P = 7 × 10 -45 ), as expected, and after adjusting for DRB1*1501, a predisposing effect was also observed for DRB1*03 (P = 5 × 10 -7 ). Individuals homozygous for either DRB1*15 or DRB1*03 were considerably more at risk of MS than heterozygotes and non-carriers. Both the DRB1*04 and the DRB1*01/DRB1*15 genotype combination, respectively, protected against PPMS in comparison to subjects with relapsing disease. Together, these data provide further evidence of heterogeneity at the DRB1 locus and confirm the importance of HLA variants in the phenotypic expression of MS. © 2009 John Wiley & Sons A/S.

DOI 10.1111/j.1399-0039.2009.01262.x
Citations Scopus - 30
Co-authors Jeannette Lechner-Scott
2009 Shi Z, Johnstone DM, Talseth-Palmer B, Evans T-J, Spigelman AD, Groombridge C, et al., 'Haemochromatosis HFE gene polymorphisms as potential modifiers of hereditary nonpolyposis colorectal cancer risk and onset age', International Journal of Cancer, 125 78-83 (2009) [C1]
DOI 10.1002/ijc.24304
Co-authors Liz Milward, Bente Talseth-Palmer
2009 Weidenhofer JC, Scott R, Tooney PA, 'Investigation of the expression of genes affecting cytomatrix active zone function in the amygdala in schizophrenia: Effects of antipsychotic drugs', Journal of Psychiatric Research, 43 282-290 (2009) [C1]
DOI 10.1016/j.jpsychires.2008.04.001
Citations Scopus - 10Web of Science - 10
Co-authors Judith Weidenhofer, Paul Tooney
2009 Tomlinson IPM, Dunlop M, Campbell H, Zanke B, Gallinger S, Hudson T, et al., 'COGENT (COlorectal cancer GENeTics): an international consortium to study the role of polymorphic variation on the risk of colorectal cancer', British Journal of Cancer, 102 447-454 (2009) [C1]
DOI 10.1038/sj.bjc.6605338
Citations Scopus - 36Web of Science - 29
2009 Ashton KA, Proietto AM, Otton GR, Symonds IM, McEvoy MA, Attia JR, et al., 'Polymorphisms in TP53 and MDM2 combined are associated with high grade endometrial cancer', Gynecologic Oncology, 113 109-114 (2009) [C1]
DOI 10.1016/j.ygyno.2008.12.036
Citations Scopus - 32Web of Science - 31
Co-authors Ian Symonds, Mark Mcevoy, John Attia
2009 Attia JR, Ioannidis JPA, Thakkinstian A, McEvoy MA, Scott R, Minelli C, et al., 'How to use an article about genetic association A: Background concepts', JAMA: Journal of the American Medical Association, 301 74-81 (2009) [C1]
DOI 10.1001/jama.2008.901
Citations Scopus - 69Web of Science - 64
Co-authors John Attia, Mark Mcevoy
2009 Attia JR, Ioannidis JPA, Thakkinstian A, McEvoy MA, Scott R, Minelli C, et al., 'How to use an article about genetic association B: Are the results of the study valid?', JAMA: Journal of the American Medical Association, 301 191-197 (2009) [C1]
DOI 10.1001/jama.2008.946
Citations Scopus - 99Web of Science - 94
Co-authors Mark Mcevoy, John Attia
2009 Attia JR, Ioannidis JPA, Thakkinstian A, McEvoy MA, Scott R, Minelli C, et al., 'How to use an article about genetic association C: What are the results and will they help me in caring for my patients?', JAMA: Journal of the American Medical Association, 301 304-308 (2009) [C1]
DOI 10.1001/jama.2008.993
Citations Scopus - 49Web of Science - 42
Co-authors John Attia, Mark Mcevoy
2009 Lubinski J, Korzen M, Gorski B, Cybulski C, Debniak T, Jakubowska A, et al., 'Genetic contribution to all cancers: The first demonstration using the model of breast cancers from Poland stratified by age at diagnosis and tumour pathology', Breast Cancer Research and Treatment, 114 121-126 (2009) [C1]
DOI 10.1007/s10549-008-9974-8
Citations Scopus - 8Web of Science - 8
2009 Baines KJ, Simpson JL, Scott R, Gibson PG, 'Immune responses of airway neutrophils are impaired in asthma', Experimental Lung Research, 35 554-569 (2009) [C1]
DOI 10.1080/01902140902777490
Citations Scopus - 21Web of Science - 20
Co-authors Peter Gibson, Katherine Baines, Jodie Simpson
2009 Simpson JL, Baines KJ, Boyle MJ, Scott R, Gibson PG, 'Oncostatin M (OSM) is increased in asthma with incompletely reversible airflow obstruction', Experimental Lung Research, 35 781-794 (2009) [C1]
DOI 10.3109/01902140902906412
Citations Scopus - 19Web of Science - 20
Co-authors Jodie Simpson, Katherine Baines, Peter Gibson
2009 Umapathy A, Whitehall V, Tran K, Grieu F, Hewitt C, Evans TJ, et al., 'A multicentre study to evaluate k-ras mutation testing methodologies in the clinical setting', JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY, 24 A240-A240 (2009) [E3]
2009 Reeves SG, Meldrum C, Groombridge C, Spigelman AD, Suchy J, Kurzawski G, et al., 'MTHFR 677 C>T and 1298 A>C polymorphisms and the age of onset of colorectal cancer in hereditary nonpolyposis colorectal cancer', European Journal of Human Genetics, 17 629-635 (2009) [C1]
DOI 10.1038/ejhg.2008.239
Co-authors Patrick Mcelduff
2009 Kaput J, Cotton RGH, Hardman L, Watson M, Aqeel AIA, Al-Aama JY, et al., 'Planning the Human Variome Project: The Spain report', Human Mutation, 30 496-510 (2009) [C1]
DOI 10.1002/humu.20972
Citations Scopus - 34Web of Science - 33
2009 Bahlo M, Booth DR, Broadley SA, Brown MA, Foote SJ, Griffiths LR, et al., 'Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20', Nature Genetics, 41 824-828 (2009) [C1]
DOI 10.1038/ng.396
Citations Scopus - 345Web of Science - 277
Co-authors Jeannette Lechner-Scott, Pablo Moscato
2009 Kladny J, Suchy J, Klujszo-Grabowska E, Kacperski T, Scott R, Kurzawski G, Lubinski J, 'Clinical characteristics of tumors derived from colorectal cancer patients who harbor the Tumor Necrosis Factor beta-1031T/T and NOD2 3020insC polymorphism', Cancer Epidemiology, 33 161-163 (2009) [C1]
DOI 10.1016/j.canep.2009.06.004
Citations Scopus - 2Web of Science - 1
2009 Cotton RGH, Al Aqeel AI, Al-Mulla F, Carrera P, Claustres M, Ekong R, et al., 'Capturing all disease-causing mutations for clinical and research use: Toward an effortless system for the Human Variome Project', Genetics in Medicine, 11 843-849 (2009) [C1]
DOI 10.1097/gim.0b013e3181c371c5
Citations Scopus - 30Web of Science - 24
2009 Talseth-Palmer B, Bowden NA, Meldrum C, Nicholl J, Thompson E, Friend K, et al., 'A 1q44 deletion, paternal UPD of chromosome 2 and a deletion due to a complex translocation detected in children with abnormal phenotypes using new SNP array technology', Cytogenetic and Genome Research, 124 94-101 (2009) [C1]
DOI 10.1159/000200093
Citations Scopus - 5Web of Science - 5
Co-authors Nikola Bowden, Bente Talseth-Palmer
2008 Simpson JL, Powell H, Boyle MJ, Scott R, Gibson PG, 'Clarithromycin targets neutrophilic airway inflammation in refractory asthma', American Journal of Respiratory and Critical Care Medicine, 177 148-155 (2008) [C1]
DOI 10.1164/rccm.200707-1134oc
Citations Scopus - 281Web of Science - 231
Co-authors Jodie Simpson, Peter Gibson
2008 Kiejda KA, Zhang XD, Adams LJ, Scott R, Vojtesek B, Lane DP, Hersey P, 'Small molecular weight variants of p53 are expressed in human melanoma cells and are induced by the DNA-damaging agent cisplatin', Clinical Cancer Research, 14 1659-1668 (2008) [C1]
DOI 10.1158/1078-0432.ccr-07-1422
Citations Scopus - 70Web of Science - 62
Co-authors Xu Zhang, Kelly Kiejda
2008 Bowden NA, Scott R, Tooney PA, 'Altered gene expression in the superior temporal gyrus in schizophrenia', BMC Genomics, 9 1-12 (2008) [C1]
DOI 10.1186/1471-2164-9-199
Citations Scopus - 35Web of Science - 36
Co-authors Nikola Bowden, Paul Tooney
2008 Jakubowska A, Menkiszak J, Gorski B, Huzarski T, Byrski T, Benner A, et al., 'Ovarian cancer risk in Polish BRCA1 mutation carriers is not associated with the prohibitin 3' untranslated region polymorphism', BMC Cancer, 8 1-5 (2008) [C1]
DOI 10.1186/1471-2407-8-90
Citations Scopus - 4Web of Science - 4
2008 Suchy J, Klujszo-Grabowska E, Kladny J, Cybulski C, Wokolorczyk D, Szymanska-Pasternak J, et al., 'Inflammatory response gene polymorphisms and their relationship with colorectal cancer risk', BMC Cancer, 8 1-7 (2008) [C1]
DOI 10.1186/1471-2407-8-112
Citations Scopus - 30Web of Science - 23
2008 Ashton KA, Proietto AM, Otton GR, Symonds IM, McEvoy MA, Attia JR, et al., 'The influence of the Cyclin D1 870 G>A polymorphism as an endometrial cancer risk factor', BMC Cancer, 8 1-6 (2008) [C1]
DOI 10.1186/1471-2407-8-272
Citations Scopus - 8Web of Science - 7
Co-authors Ian Symonds, Mark Mcevoy, John Attia
2008 Dudding TE, Heron J, Thakkinstian A, Nurk E, Golding J, Pembrey M, et al., 'Factor V Leiden is associated with pre-eclampsia but not with fetal growth restriction: A genetic association study and meta-analysis', Journal of Thrombosis and Haemostasis, 6 1868-1875 (2008) [C1]
DOI 10.111/j.1538-7836.2008.03134.x
Citations Scopus - 32Web of Science - 5
Co-authors John Attia, T Dudding
2008 Talseth-Palmer B, Bowden NA, Hill A, Meldrum C, Scott R, 'Whole genome amplification and its impact on CGH array profiles', BMC Research Notes, 1 108 (2008) [C1]
DOI 10.1186/1756-0500-1-56
Citations Scopus - 17
Co-authors Nikola Bowden, Bente Talseth-Palmer
2008 Scott R, Crooks R, Meldrum C, 'Gene symbol: STK11. Disease: Peutz-Jeghers Syndrome.', Human genetics, 124 300 (2008) [C3]
Citations Scopus - 2
2008 Debniak T, Van De Wetering T, Scott R, Nagay L, Cybulski C, Gorski B, et al., 'Low prevalence of CDKN2A/ARF mutations among early-onset cancers of breast, pancreas and malignant melanoma in Poland', European Journal of Cancer Prevention, 17 389-391 (2008) [C1]
DOI 10.1097/cej.0b013e3282f75eb1
Citations Scopus - 12Web of Science - 8
2008 Froyen G, Corbett M, Vandewalle J, Jarvela I, Lawrence O, Meldrum C, et al., 'Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation', American Journal of Human Genetics, 82 432-443 (2008) [C1]
DOI 10.1016/j.ajhg.2007.11.002
Citations Scopus - 114Web of Science - 110
Co-authors A Hackett
2008 Foster RC, Byrnes EM, Meldrum C, Griffith R, Ross G, Upjohn E, et al., 'Association of paediatric mastocytosis with a polymorphism resulting in an amino acid substitution (M541L) in the transmembrane domain of c-KIT', British Journal of Dermatology, 159 1160-1169 (2008) [C1]
DOI 10.1111/j.1365-2133.2008.08827.x
Citations Scopus - 35Web of Science - 31
Co-authors Leonie Ashman
2008 Zlowocka E, Cybulski C, Gorski B, Debniak T, Slojewski M, Wokolorczyk D, et al., 'Germline mutations in the CHEK2 kinase gene are associated with an increased risk of bladder cancer', International Journal of Cancer, 122 583-586 (2008) [C1]
DOI 10.1002/ijc.23099
Citations Scopus - 14Web of Science - 11
2008 Talseth-Palmer B, Ashton KA, Meldrum C, Suchy J, Kurzawski G, Lubinski J, Scott R, 'Aurora-A and Cyclin D1 polymorphisms and the age of onset of colorectal cancer in hereditary nonpolyposis colorectal cancer', International Journal of Cancer, 122 1273-1277 (2008) [C1]
DOI 10.1002/ijc.23177
Citations Scopus - 24Web of Science - 20
Co-authors Bente Talseth-Palmer
2008 Reeves SG, Rich D, Meldrum CJ, Colyvas KJ, Kurzawski G, Suchy J, et al., 'IGF1 is a modifier of disease risk in hereditary non-polyposis colorectal cancer', International Journal of Cancer, 123 1339-1343 (2008) [C1]
DOI 10.1002/ijc.23668
Citations Scopus - 20Web of Science - 18
Co-authors Kim Colyvas
2008 Burn J, Bishop T, Mecklin J-P, Macrae F, Moslein G, Olschwang S, et al., 'Effect of aspirin or resistant starch on colorectal neoplasia in the Lynch syndrome', New England Journal of Medicine, 359 2567-2578 (2008) [C1]
DOI 10.1056/NEJMoa0801297
Citations Scopus - 145Web of Science - 122
2008 Jaworowska E, Serrano-Fernandez P, Tarnowska C, Lubinski J, Brzosko M, Flicinski J, et al., 'Familial association of laryngeal, lung, stomach and early-onset breast cancer', Breast Cancer Research and Treatment, 112 359-361 (2008) [C1]
DOI 10.1007/s10549-007-9869-0
Citations Scopus - 1Web of Science - 1
2008 Reeves SG, Mossman D, Meldrum CJ, Kurzawski G, Suchy J, Lubinski J, Scott R, 'The-149C > T SNP within the Delta DNMT3B gene, is not associated with early disease onset in hereditary non-polyposis colorectal cancer', Cancer Letters, 265 39-44 (2008) [C1]
DOI 10.1016/j.canlet.2008.02.005
Citations Scopus - 12Web of Science - 11
2008 Jakubowska A, Gronwald J, Menklszak J, Gorski B, Huzarski T, Byrski T, et al., 'The VEGF_936_C > T 3 ' UTR polymorphism reduces BRCA1-associated breast cancer risk in Polish women', Cancer Letters, 262 71-76 (2008) [C1]
DOI 10.1016/j.canlet.2007.11.029
Citations Scopus - 39Web of Science - 33
2008 Debniak B, Kowalska E, Jakubowska A, Gronwald J, Wokolorczyk D, Maleszka R, et al., 'Common variants of DNA repair genes and malignant melanoma', European Journal of Cancer, 44 110-114 (2008) [C1]
DOI 10.1016/j.ejca.2007.10.006
Citations Scopus - 22Web of Science - 20
2008 Beveridge NJ, Tooney PA, Carroll AP, Gardiner EJ, Bowden NA, Scott R, et al., 'Dysregulation of miRNA 181b in the temporal cortex in schizophrenia', Human Molecular Genetics, 17 1156-1168 (2008) [C1]
DOI 10.1093/hmg/ddn005
Citations Scopus - 205Web of Science - 195
Co-authors Paul Tooney, Nikola Bowden, Murray Cairns
2008 Scott R, 'Variable phenotypic expression in HNPCC and the search for modifier genes', European Journal of Human Genetics, 16 531-532 (2008) [C2]
DOI 10.1038/ejhg.2008.46
Citations Scopus - 6Web of Science - 4
2007 Jaworowska E, Serrano-Fernandez P, Tarnowska C, Lubinski J, Kram A, Masojc B, et al., 'Clinical and epidemiological features of familial laryngeal cancer in Poland', Cancer Detection and Prevention, 31 270-275 (2007) [C1]
DOI 10.1016/j.cdp.2006.06.007
Citations Scopus - 3Web of Science - 1
2007 Bowden NA, Scott R, Tooney PA, 'Altered expression of regulator of G-protein signalling 4 (RGS4) mRNA in the superior temporal gyrus in schizophrenia', Schizophrenia Research, 89 165-168 (2007) [C1]
DOI 10.1016/j.schres.2006.09.003
Citations Scopus - 36Web of Science - 37
Co-authors Paul Tooney, Nikola Bowden
2007 Attia JR, Thakkinstian A, Wang Y, Lincz L, Parsons MW, Sturm J, et al., 'The PAI-1 4G/5G gene polymorphism and ischemic stroke: An association study and meta-analysis', Journal of Stroke and Cerebrovascular Diseases, 16 173-179 (2007) [C1]
DOI 10.1016/j.jstrokecerebrovasdis.2007.03.002
Citations Scopus - 33
Co-authors Christopher Levi, Mark Parsons, John Attia, Lisa Lincz
2007 Jakubowska A, Gronwald J, Menkiszak J, Gorski B, Huzarski T, Byrski T, et al., 'The RAD51 135 G > C polymorphism modifies breast cancer and ovarian cancer risk in Polish BRCA1 mutation carriers', Cancer Epidemiology Biomarkers & Prevention, 16 270-275 (2007) [C1]
DOI 10.1158/1055-9965.epi-06-0562
Citations Scopus - 52Web of Science - 52
2007 Lubinski J, Korzen M, Gorski B, Cybulski C, Debniak T, Jakubowska A, et al., 'Breast cancer susceptibility genes', Journal of the Balkan Union of Oncology, 12 S23-S29 (2007) [C1]
Citations Scopus - 6Web of Science - 7
2007 Scott R, 'Dear Readers', Hereditary Cancer in Clinical Practice, 5 1 (2007)
2007 Scott RJ, 'Dear readers', Hereditary Cancer in Clinical Practice, 5 181 (2007)
2007 Mhaidat NM, Zhang XD, Allen J, Kiejda KA, Scott R, Hersey P, 'Temozolomide induces senescence but not apoptosis in human melanoma cells', British Journal of Cancer, 97 1225-1233 (2007) [C1]
DOI 10.1038/sj.bjc.6604017
Citations Scopus - 44Web of Science - 40
Co-authors Xu Zhang, Kelly Kiejda
2007 Bowden NA, Croft A, Scott R, 'Gene expression profiling in familial adenomatous polyposis adenomas and desmoid disease', Hereditary Cancer in Clinical Practice, 5 79-96 (2007) [C1]
DOI 10.1186/1897-4287-5-2-79
Citations Scopus - 6Web of Science - 5
Co-authors Nikola Bowden
2007 Kairupan C, Scott R, 'Base excision repair and the role of MUTYH', Hereditary Cancer in Clinical Practice, 5 199-209 (2007) [C1]
DOI 10.1186/1897-4287-5-4-199
Citations Scopus - 7Web of Science - 6
2007 Scott R, 'Response to 'Variability in the clinical phenotype among families with HNPCC': The potential importance of the location of the mutation in the gene by Dr. Prathap Bandipalliant', International Journal of Cancer, 120 2278 (2007) [C3]
DOI 10.1002/ijc.22347
2007 Talseth-Palmer B, Meldrum C, Suchy J, Kurzawski G, Lubinski J, Scott R, 'MDM2 SNP309 T > G alone or in combination with the TP53 R72P polymorphism does not appear to influence disease expression and age of diagnosis of colorectal cancer in HNPCC patients', International Journal of Cancer, 120 563-565 (2007) [C1]
DOI 10.1002/ijc.22339
Citations Scopus - 32Web of Science - 31
Co-authors Bente Talseth-Palmer
2007 Jakubowska A, Gronwald J, Menkiszak J, Gorski B, Huzarski T, Byrski T, et al., 'Integrin 3 Leu33Pro polymorphism increases BRCA1-associated ovarian cancer risk', Journal of Medical Genetics, 44 408-411 (2007) [C1]
DOI 10.1136/jmg.2006.047498
Citations Scopus - 12
2007 Easton DF, Search Collaborators Including, Forbes JF, 'Genome-wide association study identifies novel breast cancer susceptibility loci', Nature, 447 1087-1093 (2007) [C1]
DOI 10.1038/nature05887
Citations Scopus - 1552
Co-authors T Dudding, John Forbes
2007 Talseth-Palmer B, Meldrum C, Suchy J, Kurzawski G, Lubinski J, Scott R, 'Lack of association between genetic polymorphisms in cytokine genes and disease expression in patients with hereditary non-polyposis colorectal cancer', Scandinavian Journal of Gastroenterology, 42 628-632 (2007) [C1]
DOI 10.1080/00365520601106699
Citations Scopus - 12Web of Science - 11
Co-authors Bente Talseth-Palmer
2007 Simpson JL, Grissell TV, Douwes J, Scott R, Boyle MJ, Gibson PG, 'Innate immune activation in neutrophilic asthma and bronchiectasis', Thorax, 62 211-218 (2007) [C1]
DOI 10.1136/thx.2006.061358
Citations Scopus - 178Web of Science - 172
Co-authors Jodie Simpson, Peter Gibson
2007 Jakubowska A, Gronwald J, Menkiszak J, Go B, Huzarski T, Byrski T, et al., 'Methylenetetrahydrofolate reductase polymorphisms modify BRCA1-associated breast and ovarian cancer risks', Breast Cancer Research and Treatment, 104 299-308 (2007) [C1]
DOI 10.1007/s10549-006-9417-3
Citations Scopus - 35Web of Science - 33
2007 Jakubowska A, Gronwald J, Gorski B, Huzarski T, Byrski T, Benner A, et al., 'The 3 ' untranslated region C > T polymorphism of prohibitin is a breast cancer risk modifier in Polish women carrying a BRCA1 mutation', Breast Cancer Research and Treatment, 104 67-74 (2007) [C1]
DOI 10.1007/s10549-006-9389-3
Citations Scopus - 9Web of Science - 10
2007 Matyjasik J, Cybulski C, Masojc B, Jakubowska A, Serrano-Fernandez P, Gorski B, et al., 'CYP1B1 and predisposition to breast cancer in Poland', Breast Cancer Research and Treatment, 106 383-388 (2007) [C1]
DOI 10.1007/s10549-007-9500-4
Citations Scopus - 14Web of Science - 9
2006 Hearle N, Schumacher V, Menko FH, Olschwang S, Boardman LA, Gille JJP, et al., 'STKII status and intussusception risk in Peutz-Jeghers syndrome', Journal of Medical Genetics, 43 41-43 (2006) [C1]
DOI 10.1136/jmg.2005.040535
Citations Scopus - 23Web of Science - 20
2006 Reeves SG, Meldrum C, Scott R, 'Re: IGF-1 gene polymorphism and risk for hereditary nonpolyposis colorectal cancer (Letter)', Journal of the National Cancer Institute, 98 1664-1665 (2006) [C3]
DOI 10.1093/jnci/djj452
Citations Scopus - 5Web of Science - 5
2006 Weidenhofer JC, Bowden NA, Scott R, Tooney PA, 'Altered gene expression in the amygdala in schizophrenia: Up-regulation of genes located in the cytomatrix active zone', Molecular and Cellular Neuroscience, 31 243-250 (2006) [C1]
DOI 10.1016/j.mcn.2005.09.013
Citations Scopus - 39Web of Science - 38
Co-authors Nikola Bowden, Paul Tooney, Judith Weidenhofer
2006 Talseth-Palmer B, Meldrum C, Suchy J, Kurzawski G, Lubinski J, Scott R, 'Age of diagnosis of colorectal cancer in HNPCC patients is more complex than that predicted by R72P polymorphism in TP53', International Journal of Cancer, 118 2479-2484 (2006) [C1]
DOI 10.1002/ijc.21661
Citations Scopus - 28Web of Science - 25
Co-authors Bente Talseth-Palmer
2006 Lener MR, Oszutowska D, Castaneda J, Kurzawski G, Suchy J, Nej-Wolosiak K, et al., 'Prevalence of the NOD32 3020insC mutation in aggregations of breast and lung cancer', Breast Cancer Research and Treatment, 95 141-145 (2006) [C1]
DOI 10.1007/s10549-005-9057-z
Citations Scopus - 15Web of Science - 16
2006 Jaworowska E, Masojc B, Tarnowska C, Brzosko M, Flicinski J, Serrano-Fernandez P, et al., 'Association between early-onset breast and laryngeal cancers', Breast Cancer Research and Treatment, 97 215-219 (2006) [C1]
DOI 10.1007/s10549-005-9116-5
Citations Scopus - 10Web of Science - 10
2006 Debniak T, Scott R, Huzarski T, Byrski T, Masojc B, Van De Wetering T, et al., 'XPD common variants and their association with melanoma and breast cancer risk', Breast Cancer Research and Treatment, 98 209-215 (2006) [C1]
DOI 10.1007/s10549-005-9151-2
Citations Scopus - 36Web of Science - 33
2006 Masojc B, Mierzejewski M, Cybulski C, Van De Wetering T, Debniak T, Gorski B, et al., 'Cancer familial aggregation (CFA) and G446A polymorphism in ARLTS1 gene', Breast Cancer Research and Treatment, 99 59-62 (2006) [C1]
DOI 10.1007/s10549-006-9180-5
Citations Scopus - 14Web of Science - 13
2006 Dedniak T, Scott R, Huzarski T, Byrski T, Rozmiarek A, Debniak B, et al., 'CDKN2A common variant and multi-organ cancer risk - a population-based study (Short report)', International Journal of Cancer, 118 3180-3182 (2006) [C1]
DOI 10.1002/ijc.21760
Citations Scopus - 16Web of Science - 11
2006 Moscovis SM, Gordon AE, Al Madani OM, Gleeson M, Scott R, Roberts-Thomson JM, et al., 'IL6 G-174C Associated With Sudden Infant Death Syndrome in a Caucasian Australian Cohort', Human Immunology, 67 819-825 (2006) [C1]
DOI 10.1016/j.humimm.2006.07.010
Citations Scopus - 33Web of Science - 33
Co-authors Maree Gleeson, Caroline Blackwell, Sharron Hall
2006 Chow E, Meldrum CJ, Crooks R, Macrae FA, Spigelman AD, Scott RJ, 'An updated mutation spectrum in an Australian series of Peutz-Jeghers Syndrome patients provides further evidence for only one gene locus', JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY, 21 A262-A262 (2006)
2006 Bowden NA, Weidenhofer JC, Scott R, Schall U, Todd J, Michie PT, Tooney PA, 'Preliminary investigation of gene expression profiles in peripheral blood lymphocytes in schizophrenia', Schizophrenia Research, 82 175-183 (2006) [C1]
DOI 10.1016/j.schres.2005.11.012
Citations Scopus - 83Web of Science - 73
Co-authors Judith Weidenhofer, Ulrich Schall, Juanita Todd, Paul Tooney, Pat Michie, Nikola Bowden
2006 Hitchins M, Suter C, Wong J, Cheong K, Hawkins N, Leggett B, et al., 'Germline epimutations of APC are not associated with inherited colorectal polyposis (Letter)', Gut, 55 586-587 (2006) [C3]
Citations Scopus - 11Web of Science - 10
2006 Debniak T, Scott R, Masojc B, Serrano-Fernandez P, Huzarski T, Byrski T, et al., 'MC1R common variants, CDKN2A and their association with melanoma and breast cancer risk', International Journal of Cancer, 119 2597-2602 (2006) [C1]
DOI 10.1002/ijc.22210
Citations Scopus - 28Web of Science - 25
2006 Simpson JL, Scott R, Boyle MJ, Gibson PG, 'Inflammatory subtypes in asthma: Assessment and identification using induced sputum', Respirology, 11 54-61 (2006) [C1]
DOI 10.1111/j.1440-1843.2006.00784.x
Citations Scopus - 367Web of Science - 333
Co-authors Peter Gibson, Jodie Simpson
2006 Milne E, Van Bockxmeer FM, Robertson L, Brisbane JM, Ashton LJ, Scott R, Armstrong BK, 'Buccal DNA collection: Comparison of buccal swabs with FTA cards (short communication)', Cancer Epidemiology Biomarkers & Prevention, 15 816-819 (2006) [C1]
DOI 10.1158/1055-9965.EPI-05-0753
Citations Scopus - 37Web of Science - 36
2006 Ashton KA, Meldrum CJ, McPhillips ML, Suchy J, Kurzawski G, Lubinski J, Scott R, 'The association of the COMT V158M polymorphism with endometrial/ovarian cancer in HNPCC families adhering to the Amsterdam criteria', Hereditary Cancer in Clinical Practice, 4 94-102 (2006) [C1]
DOI 10.1186/1897-4287-4-2-94
Citations Scopus - 3
2006 Mossman D, Scott R, 'Epimutations, inheritance and causes of aberrant DNA methylation in cancer', Hereditary Cancer in Clinical Practice, 4 75-80 (2006) [C1]
DOI 10.1186/1897-4287-4-2-75
Citations Scopus - 1
2006 Bowden NA, Tooney PA, Scott R, 'Gene expression profiling of xeroderma pigmentosum', Hereditary Cancer in Clinical Practice, 4 103-110 (2006) [C1]
DOI 10.1186/1897-4287-4-2-103
Citations Scopus - 2
Co-authors Paul Tooney, Nikola Bowden
2006 Scott RJ, Moscovis SM, Hall ST, Gleeson M, Roberts-Thompson J, Blackwell CC, 'The influence of infection on cytokine gene polymorphisms in evolution', Before Farming, (2006) [C2]
Co-authors Maree Gleeson
2006 D¿bniak T, Scott RJ, Huzarski T, Byrski T, Rozmiarek A, D¿bniak B, et al., 'Erratum: CDKN2A common variant and multi-organ cancer risk - A population-based study (International Journal of Cancer (2006) 118 (3180-3182))', International Journal of Cancer, 119 2502 (2006)
DOI 10.1002/ijc.22188
2006 Milne E, Van Bockxmeer FM, Robertson L, Brisbane JM, Ashton LJ, Scott RJ, et al., 'Erratum: Buccal DNA collection: Comparison of buccal swabs with FTA cards (Cancer Epidemiology Biomarkers and Prevention (April 2006) 15 (816-819))', Cancer Epidemiology Biomarkers and Prevention, 15 1056 (2006)
DOI 10.1158/1055-9965.EPI-15-5-COR
2006 D¿bniak T, Cybulski C, Kurzawski G, Górski B, Huzarski T, Byrski T, et al., 'Low-risk genes and multi-organ cancer risk in the Polish population', Hereditary Cancer in Clinical Practice, 4 52-55 (2006)
Citations Scopus - 3
2006 Scott RJ, 'Hereditary Cancer in Clinical Practice: Editorial', Hereditary Cancer in Clinical Practice, 4 73 (2006)
2006 Talseth-Palmer B, Meldrum C, Suchy J, Kurzawski G, Lubinski J, Scott R, 'Genetic polymorphisms in xenobiotic clearance genes and their influence on disease expression in hereditary nonpolyposis colorectal cancer patients', Cancer Epidemiology Biomarkers & Prevention, 15 2307-2310 (2006) [C1]
DOI 10.1158/1055-9965.EPI-06-0040
Citations Scopus - 18Web of Science - 15
Co-authors Bente Talseth-Palmer
2006 Hearle N, Schumacher V, Menko FH, Olschwang S, Boardman LA, Gille JJP, et al., 'Frequency and spectrum of cancers in the Peutz-Jeghers syndrome', Clinical Cancer Research, 12 3209-3215 (2006) [C1]
DOI 10.1158/1078-0432.CCR-06-0083
Citations Scopus - 360Web of Science - 277
2006 Weidenhofer J, Bowden NA, Scott RJ, Tooney PA, 'Dysfunction of genes regulating membrane exocytosis in schizophrenia', AUSTRALIAN AND NEW ZEALAND JOURNAL OF PSYCHIATRY, 40 A129-A129 (2006)
Co-authors Paul Tooney, Judith Weidenhofer, Nikola Bowden
2006 Kurzawski G, Suchy J, Lener M, Klujszo-Grabowska E, Kladny J, Safranow K, et al., 'Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study)', Clinical Genetics, 69 40-47 (2006) [C1]
DOI 10.1111/j.1399-0004.2006.00550.x
Citations Scopus - 18Web of Science - 21
2006 Chow E, Meldrum CJ, Crooks R, Macrae F, Spigelman AD, Scott R, 'An updated mutation spectrum in an Australian series of PJS patients provides further evidence for only one gene locus', Clinical Genetics, 70 409-414 (2006) [C1]
DOI 10.1111/j.1399-0004.2006.00704.x
Citations Scopus - 16Web of Science - 14
2006 Suchy J, Kurzawski G, Jakubowska K, Rac ME, Safranow K, Kladny J, et al., 'Frequency and nature of hMSH6 germline mutations in Polish patients with colorectal, endometrial and ovarian cancers (letter)', Clinical Genetics, 70 68-70 (2006) [C3]
Citations Scopus - 5Web of Science - 5
2005 Debniak T, Scott R, Huzarski T, Byrski T, Rozmiarek A, Debniak B, et al., 'CDKN2A common variants and their association with melanoma risk: A population-based study', Cancer Research, 65 835-839 (2005) [C1]
Citations Scopus - 51Web of Science - 45
2005 Hitchins M, Williams R, Cheong K, Halani N, Lin VAP, Packham D, et al., 'MLH1 Germline Epimutations as a Factor in Hereditary Nonpolyposis Colorectal Cancer', Gastroenterology, 129 1392-1399 (2005) [C1]
DOI 10.1053/j.gastro.2005.09.003
Citations Scopus - 127Web of Science - 112
2005 Weir L, Spigelman AD, Scott R, Kirk J, Zeckendorf S, Sitas F, 'The NSW & ACT Hereditary Cancer Registers', Australian Family Physician, 34 53-57 (2005) [C3]
Citations Scopus - 1
2005 Blackwell CC, Moscovis SM, Gordon AE, Al Madani OM, Hall S, Gleeson M, et al., 'Cytokine responses and sudden infant death: genetic, developmental, and environmental risk factors', Journal of Leukocyte Biology, 78 1242-1254 (2005) [C1]
DOI 10.1189/jlb.0505253
Citations Scopus - 61Web of Science - 56
Co-authors Sharron Hall, Maree Gleeson, Caroline Blackwell
2005 Kairupan CF, Meldrum CJ, Crooks R, Milward EA, Spigelman AD, Burgess B, et al., 'Mutation analysis of the MYH gene in an Australian series of colorectal polyposis patients with or without germline APC mutations', International Journal of Cancer, 116 73-77 (2005) [C1]
DOI 10.1002/ijc.20983
Citations Scopus - 30Web of Science - 24
Co-authors Liz Milward
2005 Gronwald J, Jauch A, Cybulski C, Schoell B, Bohm-Steuer B, Lener M, et al., 'Comparison of genomic abnormalities between BRCAX and sporadic breast cancers studied by comparative genomic hybridization', International Journal of Cancer, 114 230-236 (2005) [C1]
DOI 10.1002/ijc.20723
Citations Scopus - 26Web of Science - 21
2005 Scott RJ, 'Hereditary Cancer in Clinical Practice: Editorial', Hereditary Cancer in Clinical Practice, 3 85 (2005)
2005 Simpson JL, Scott R, Boyle MJ, Gibson PG, 'Differential proteolytic enzyme activity in eosinophilic and neutrophilic asthma', American Journal of Respiratory and Critical Care Medicine, 172 559-565 (2005) [C1]
DOI 10.1164/rccm.200503-369OC
Citations Scopus - 105Web of Science - 95
Co-authors Peter Gibson, Jodie Simpson
2005 Weber W, Scott R, 'Case report: Familial gastric cancer and chordoma in the same family', Hereditary Cancer in Clinical Practice, 3 81-84 (2005) [C2]
Citations Scopus - 1Web of Science - 1
2005 McPhillips M, Meldrum CJ, Scott R, Creegan R, Edkins E, 'Deletion mutations in an Australian series of HNPCC patients', Hereditary Cancer in Clinical Practice, 3 43-47 (2005) [C2]
Citations Scopus - 1Web of Science - 1
2005 Ashton KA, Meldrum CJ, McPhillips ML, Kairupan CF, Scott R, 'Frequency of the common MYH mutations (G382D and Y165C) in MMR mutation positive and negative HNPCC patients', Hereditary Cancer in Clinical Practice, 3 65-70 (2005) [C1]
DOI 10.1186/1897-4287-3-2-65
Citations Scopus - 11Web of Science - 10
2005 Scott R, Meldrum C, 'Missense mutations in cancer predisposing genes: can we make sense of them?', Hereditary Cancer in Clinical Practice, 3 123-127 (2005) [C1]
DOI 10.1186/1897-4287-3-3-123
2004 Marazita ML, Murray JC, Lidral AC, Arcos-Burgos M, Cooper ME, Goldstein T, et al., 'Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35', American Journal of Human Genetics, 75 161-173 (2004) [C1]
DOI 10.1086/422475
Citations Scopus - 136Web of Science - 128
2004 Kurzawski G, Suchy J, Lubinski J, Scott RJ, 'NOD2 and colorectal cancer: Guilt by non-association - Response', CANCER RESEARCH, 64 5525-5526 (2004)
2004 Kurzawski G, Suchy J, Kladny J, Grabowska E, Mierzejewski M, Jakubowska A, et al., 'The NOD2 3020insC Mutation and the Risk of Colorectal Cancer', Cancer Research, 64 1604-1606 (2004) [C1]
DOI 10.1158/0008-5472.CAN-03-3791
Citations Scopus - 76Web of Science - 66
2004 Kurzawski G, Suchy J, Lubinski J, Scott R, 'NOD2 and colorectal cancer: guilt by non-association', Cancer Research, 64 5525-5526 (2004) [C1]
Citations Scopus - 2
2004 Scott R, Meldrum CJ, 'Response to De Vos et al', Clinical Genetics, 66 568 (2004) [C3]
2004 Thompson E, Meldrum CJ, Crooks R, McPhillips M, Thomas LS, Spigelman AD, Scott R, 'Hereditary non-polyposis colorectal cancer and the role of hPMS2 and hEXO1 mutations', Clinical Genetics, 65 215-225 (2004) [C1]
DOI 10.1111/j.1399-0004.2004.00214.x
Citations Scopus - 37Web of Science - 32
2004 Lim W, Olschwang S, Keller J, Westerman A, Menko F, Boardman L, et al., 'Relative frequency and morphology of cancers in STK11 mutation carriers', Gastroenterology, 126 1788-1794 (2004) [C1]
DOI 10.1053/j.gastro.2004.03.014
Citations Scopus - 145Web of Science - 114
2004 Debniak T, Gorski B, Scott R, Cybulski C, Medrek K, Zlowocka E, et al., 'Germline Mutation and Large Deletion Analysis of the CDKN2A and ARF Genes in Families with Multiple Melanoma or an Aggregation of Maligant Melanoma and Breast Cancer', International Journal of Cancer, 110 558-562 (2004) [C1]
DOI 10.1002/ijc.20163
Citations Scopus - 22Web of Science - 19
2004 Smith CJ, Crock PA, King BR, Meldrum CJ, Scott R, 'Phenotype-Genotype Correlations in a Series of Wolfram Syndrome Families', Diabetes Care, 27 2003-2009 (2004) [C1]
DOI 10.2337/diacare.27.8.2003
Citations Scopus - 48Web of Science - 40
Co-authors Bruce King
2004 Scott R, 'DNA mismatch repair genes and hereditary non-polyposis colorectal cancer', J Gastro Hepatol, 19 465-466 (2004) [C1]
DOI 10.1111/j.1440-1746.2004.03425.x
2004 Moscovis SM, Gordon AE, Al Madani OM, Gleeson M, Scott R, Roberts-Thomson JM, et al., 'Interleukin-10 and sudden infant death syndrome', FEMS Immunology and Medical Microbiology, 42 130-138 (2004) [C1]
DOI 10.1016/j.femsim.2004.06.020
Citations Scopus - 35Web of Science - 33
Co-authors Caroline Blackwell, Maree Gleeson, Sharron Hall
2004 Moscovis SM, Gordon AE, Hall ST, Gleeson M, Scott R, Roberts-Thomson JM, et al., 'Interleukin 1-b responses to bacterial toxins and sudden infant death syndrome', FEMS Immunology and Medical Microbiology, 42 139-145 (2004) [C1]
DOI 10.1016/j.femsim.2004.06.005
Citations Scopus - 27Web of Science - 25
Co-authors Sharron Hall, Maree Gleeson, Caroline Blackwell
2004 Blackwell CC, Moscovis SM, Gordon AE, Al Madani OM, Hall ST, Gleeson M, et al., 'Ethnicity, infection and sudden infant death syndrome', FEMS Immunology and Medical Microbiology, 42 53-65 (2004) [C1]
DOI 10.1016/j.femsim.2004.06.007
Citations Scopus - 32Web of Science - 23
Co-authors Sharron Hall, Caroline Blackwell, Maree Gleeson
2004 Spigelman AD, Burgess BT, Groombridge C, Scott R, 'Genetic testing: a round table conversation', Internal Medicine Journal, 34 587-588 (2004) [C1]
DOI 10.1111/j.1445-5994.2004.00679.x
2004 Scott R, Ashton KA, 'Familial breast and bowel cancer: Does it exist?', Hereditary Cancer in Clinical Practice, 2 25-59 (2004) [C1]
DOI 10.1186/1897-4287-2-1-25
2004 Scott R, 'DNA Double Strand Break Repair and its Association with Inherited Predispositions to Breast Cancer', Hereditary Cancer in Clinical Practice, 2 37-43 (2004) [C1]
DOI 10.1186/1897-4287-2-1-37
2004 Gawdis-Wojnarska B, Brzoska M, Flicinski J, Marlicz K, Starzynska T, Scott R, Lubinski J, 'Nuclear Pedigree Criteria for the Identification of Individuals Suspected to be at Risk of an Inherited Predisposition to Gastric Cancer', Hereditary Cancer in Clinical Practice, 2 65-68 (2004) [C1]
DOI 10.1186/1897-4287-2-2-65
2004 Scott R, Crooks R, Rose L, Attia JR, Thakkinstian A, Thomas L, et al., 'Germline Missense Changes in the APC Gene and Their Relationship to Disease', Hereditary Cancer in Clinical Practice, 2 81-91 (2004) [C1]
DOI 10.1186/1897-4287-2-2-81
Co-authors John Attia
2004 Liu X, Sinn H-P, Ulmer HU, Scott R, Hamann U, 'Intronic TP53 Germline Sequence Variants Modify the Risk in German Breast/Ovarian Cancer Families', Hereditary Cancer in Clinical Practice, 2 139-145 (2004) [C1]
DOI 10.1186/1897-4287-2-3-139
2003 Meldrum CJ, McPhillips M, Crooks R, Thomas L, Edkins T, Creegan R, et al., 'A comparison between denaturing gradient gel electrophoresis and denaturing high performance liquid chromatography in detecting mutations in genes associated with hereditary non-polyposis colorectal cancer (HNPCC) and the identification of 9 new mutations previously unidentified by DGGE', Hereditary Cancer in Clinical Practice, 1 39-48 (2003) [C1]
DOI 10.1186/1897-4287-1-1-39
2003 Scott RJ, Vajdic CM, Armstrong BK, Ainsworth CJ, Meldrum CJ, Aitken JF, Kricker A, 'Erratum: BRCA2 mutations in a population-based series of patients with ocular melanoma (International Journal of Cancer (2003) 102 (188-191))', International Journal of Cancer, 105 882 (2003)
2003 Górski B, D¿bniak T, Masojc B, Mierzejewski M, M¿drek K, Cybulski C, et al., 'Erratum: Germline 657del5 mutation in the NBSI gene in breast cancer patients (International Journal Cancer (2003) 106 (379-381))', International Journal of Cancer, 106 984 (2003)
2003 Gorski B, Debniak T, Mosojc B, Mierzejewski M, Medrek K, Cybulski C, et al., 'Germline 657del5 mutation in the NBS1 gene in breast cancer patients', International Journal of Cancer, 106 379-381 (2003) [C1]
DOI 10.1002/ijc.11231
Citations Scopus - 64Web of Science - 64
2003 Lubinski W, Kurzawski G, Suchy J, Szych Z, Penkala K, Palacz O, et al., 'Electro-Oculographic and Electroretinographic Studies in HNPCC Gene Mutation Carriers', Ophthalmic Research, 35 281-294 (2003) [C1]
DOI 10.1159/000072149
Citations Scopus - 1
2003 Jakubowska A, Scott R, Menkiszak J, Gronwald J, Byrski T, Huzarski T, et al., 'A high frequency of BRCA2 gene mutations in Polish families with ovarian and stomach cancer', European Journal of Human Genetics, 11 955-958 (2003) [C1]
DOI 10.1038/sj.ejhg.5201064
Citations Scopus - 28Web of Science - 20
2002 Scott R, Crooks R, Meldrum C, Thomas L, Smith C, Mowat D, et al., 'Mutation analysis of the STK11/LKB1 gene and clinical characteristics of an Australian series of Peutz-Jeghers syndrome patients', Clinical Genetics, 62 282-287 (2002) [C1]
Citations Scopus - 41Web of Science - 36
2002 Scott R, Vajdic C, Armstrong B, Ainsworth C, Meldrum C, Aitken J, Kricker A, 'BRCA2 Mutations in a Population-Based Series of Patients with Ocular Melanoma', International Journal of Cancer, 102 188-191 (2002) [C1]
Citations Scopus - 28
2002 Niu J, Dorahy DJ, Gu X, Scott R, Draganic B, Ahmed N, Agrez MV, 'Integrin expression in colon cancer cells is regulated by the cytoplasmic domain of the 6 integrin subunit', International Journal of Cancer, 99(4) 529-537 (2002) [C1]
Citations Scopus - 32Web of Science - 28
2002 Hamann U, Liu X, Lange S, Ulmer H, Benner A, Scott R, 'Contribution of BRCA2 germline mutations to hereditary breast/ovarian cancer in Germany', Journal of Medical Genetics, 39:e12 1 of 6 (2002) [C1]
Citations Scopus - 8
2002 Kurzawski G, Safranow K, Suchy J, Chlubek D, Scott R, Lubinski J, 'Mutation analysis of MLH1 and MSH2 genes performed by denaturing high-performance liquid chromatography', Journal of Biochemical and Biophysical Methods, 51 89-100 (2002) [C1]
Citations Scopus - 41Web of Science - 41
2002 Ward R, Meldrum C, Williams R, Mokany E, Scott R, Turner J, et al., 'Impact of microsatellite testing and mismatch repair protein expression on the clinical interpretation of genetic testing in hereditary non-polyposis colorectal cancer', Journal of Cancer Research and Clinical Oncology, 128(8) 403-411 (2002) [C1]
DOI 10.1007/s00432-002-0361-2
Citations Scopus - 27Web of Science - 21
2002 Ahmed N, Niu J, Dorahy DJ, Gu X, Andrews S, Meldrum C, et al., 'Direct integrin v 6-ERK binding: implications for tumour growth', Oncogene, 21 1370-1380 (2002) [C1]
DOI 10.1038/sj.onc.1205286
Citations Scopus - 70Web of Science - 65
2002 Mural RJ, Adams MD, Myers EW, Smith HO, Gabor Miklos GL, Wides R, et al., 'A comparison of whole-genome shotgun-derived mouse chromosome 16 and the human genome', Science, 296 1661-1671 (2002)

The high degree of similarity between the mouse and human genomes is demonstrated through analysis of the sequence of mouse chromosome 16 (Mmu 16), which was obtained as part of a... [more]

The high degree of similarity between the mouse and human genomes is demonstrated through analysis of the sequence of mouse chromosome 16 (Mmu 16), which was obtained as part of a whole-genome shotgun assembly of the mouse genome. The mouse genome is about 10% smaller than the human genome, owing to a lower repetitive DNA content. Comparison of the structure and protein-coding potential of Mmu 16 with that of the homologous segments of the human genome identifies regions of conserved synteny with human chromosomes (Hsa) 3, 8, 12, 16, 21, and 22. Gene content and order are highly conserved between Mmu 16 and the syntenic blocks of the human genome. Of the 731 predicted genes on Mmu 16, 509 align with orthologs on the corresponding portions of the human genome, 44 are likely paralogous to these genes, and 164 genes have homologs elsewhere in the human genome; there are 14 genes for which we could find no human counterpart.

DOI 10.1126/science.1069193
Citations Scopus - 246
2002 Jukubowska A, Nej K, Huzarski T, Scott R, Lubinski J, 'BRCA2 gene mutations in families with aggregations of breast and stomach cancers', British Journal of Cancer, 87 888-891 (2002) [C1]
Citations Scopus - 55Web of Science - 47
2002 Gu X, Niu J, Dorahy D, Scott R, Agrez M, 'Integrin av/B6-associated ERK2 mediates MMP-9 secretion in colon cancer cells', British Journal of Cancer, 87 348-351 (2002) [C1]
Citations Scopus - 32Web of Science - 29
2001 Meldrum CJ, Crooks R, Scott RJ, 'D-HPLC detection of APC mutations.', AMERICAN JOURNAL OF HUMAN GENETICS, 69 269-269 (2001)
2001 Scott R, McPhillips M, Meldrum C, Fitzgerald P, Adams K, Spigelman A, et al., 'Hereditary non polyposis colorectal cancer in 95 families: differences and similarities between mutation-positive and mutation-negative kindreds', American Journal of Human Genetics, 68 118-127 (2001) [C1]
DOI 10.1086/316942
2001 Scott R, 'Reply to Vasen et al', American Journal of Human Genetics, 68 1534-1535 (2001) [C3]
2001 Thompson D, Easton D, Breast Cancer Linkage Consortium Bclc, Scott R, 'Variation in cancer risks, by mutation position, in BRCA2 mutation carriers', American Journal of Human Genetics, 68 410-419 (2001) [C1]
2001 Scott R, McPhillips M, Meldrum C, Fitzgerald P, Adams K, Spigelman AD, et al., 'Hereditary nonpolyposis colorectal cancer in 95 families: differences and similarities between mutation-positive and mutation-negative kindreds', The American Journal of Human Genetics, 68 118-127 (2001) [C1]
Citations Scopus - 144Web of Science - 135
2001 Guldenschuh I, Hurlimann R, Muller A, Ammann R, Mullhaupt B, Dobbie Z, et al., 'Relationship between APC Genotype, Polyp Distribution and Oral Sulindac Treatment in the Colon and Rectum of Patients with Familial Adenomatous Polyposis', Diseases of the Colon and Rectum, 44 1090-1099 (2001) [C1]
Citations Scopus - 23Web of Science - 6
2001 Scott R, Meldrum C, Crooks R, Spigelman A, Kirk J, Tucker K, et al., 'Familial adenomatous polyposis: more evidence for disease diversity and genetic heterogeneity', Gut, 48 508-514 (2001) [C1]
Citations Scopus - 32Web of Science - 22
2001 Craig Venter J, Adams MD, Myers EW, Li PW, Mural RJ, Sutton GG, et al., 'The sequence of the human genome', Science, 291 1304-1351 (2001)

A 2.91-billion base pair (bp) consensus sequence of the euchromatic portion of the human genome was generated by the whole-genome shotgun sequencing method. The 14.8-billion bp DN... [more]

A 2.91-billion base pair (bp) consensus sequence of the euchromatic portion of the human genome was generated by the whole-genome shotgun sequencing method. The 14.8-billion bp DNA sequence was generated over 9 months from 27,271,853 high-quality sequence reads (5.11-fold coverage of the genome) from both ends of plasmid clones made from the DNA of five individuals. Two assembly strategies - a whole-genome assembly and a regional chromosome assembly - were used, each combining sequence data from Celera and the publicly funded genome effort. The public data were shredded into 550-bp segments to create a 2.9-fold coverage of those genome regions that had been sequenced, without including biases inherent in the cloning and assembly procedure used by the publicly funded group. This brought the effective coverage in the assemblies to eightfold, reducing the number and size of gaps in the final assembly over what would be obtained with 5.11-fold coverage. The two assembly strategies yielded very similar results that largely agree with independent mapping data. The assemblies effectively cover the euchromatic regions of the human chromosomes. More than 90% of the genome is in scaffold assemblies of 100,000 bp or more, and 25% of the genome is in scaffolds of 10 million bp or larger. Analysis of the genome sequence revealed 26,588 protein-encoding transcripts for which there was strong corroborating evidence and an additional ~ 12,000 computationally derived genes with mouse matches or other weak supporting evidence. Although gene-dense clusters are obvious, almost half the genes are dispersed in low G+C sequence separated by large tracts of apparently noncoding sequence. Only 1.1% of the genome is spanned by exons, whereas 24% is in introns, with 75% of the genome being intergenic DNA. Duplications of segmental blocks, ranging in size up to chromosomal lengths, are abundant throughout the genome and reveal a complex evolutionary history. Comparative genomic analysis indicates vertebrate expansions of genes associated with neuronal function, with tissue-specific developmental regulation, and with the hemostasis and immune systems. DNA sequence comparisons between the consensus sequence and publicly funded genome data provided locations of 2.1 million single-nucleotide polymorphisms (SNPs). A random pair of human haploid genomes differed at a rate of 1 bp per 1250 on average, but there was marked heterogeneity in the level of polymorphism across the genome. Less than 1% of all SNPs resulted in variation in proteins, but the task of determining which SNPs have functional consequences remains an open challenge.

DOI 10.1126/science.1058040
Citations Scopus - 8582
2001 Jakubowska A, Grski B, Byrski T, Huzarski T, Gronwald J, Menkiszak J, et al., 'Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome', Human Mutation, 18 141-148 (2001)

Alport syndrome is a progressive renal disease leading to chronic renal failure, which often is accompanied by sensorineural deafness and ophthalmological signs in the form of ant... [more]

Alport syndrome is a progressive renal disease leading to chronic renal failure, which often is accompanied by sensorineural deafness and ophthalmological signs in the form of anterior lenticonus. The X-linked form of the disease is caused by mutations in the COL4A5 gene encoding the a5-chain of type IV-collagen. We performed mutation analysis of the COL4A5 gene by PCRSSCP analysis of each of the 51 exons with flanking intronic sequences in 81 patients suspected of X-linked Alport syndrome including 29 clear X-linked cases, 37 cases from families with a pedigree compatible with X-linked inheritance, and 15 isolated cases. We found a mutation detection rate of 52% (42/81) (58% in males and 21% in females), and 69% (20/29) in families who clearly demonstrated X-linked inheritance. Thirty-six different mutations were found in 42 patients comprising 16 missense mutations, seven frameshifts, three in-frame deletions, four nonsense mutations, and six splice site mutations. Twenty-two of the mutations have not previously been reported. Furthermore, we found one non-pathogenic amino acid substitution, one rare variant in a noncoding region, and one polymorphism with a heterozygosity of 28%. Three de novo mutations were found, two of which were paternal and one of maternal origin. © 2001 Wiley-Liss, Inc.

DOI 10.1002/humu.1163
Citations Scopus - 27
2001 Jakubowska A, Gorski B, Kurzawski G, Debniak T, Hadaczek P, Cybulski C, et al., 'Optimization of experimental conditions for RNA-based sequencing of MLH1 and MSH2 genes', Human Mutation, 17 52-60 (2001) [C1]
Citations Scopus - 17Web of Science - 15
2001 Jakubowska A, Gorski B, Byrski T, Huzarski T, Gronwald J, Menkiszak J, et al., 'Detection of germline mutations in the BRCA1 gene by RNA-based sequencing', Human Mutation, 18 149-156 (2001) [C1]
Citations Web of Science - 19
2001 Humar B, Muller H, Scott R, 'Cell cycle dependent DNA break increase in ataxia telangiectasia lymphoblasts after radiation exposure', Molecular Pathology, 54 347-350 (2001) [C1]
Citations Scopus - 6Web of Science - 6
2001 Connor JR, Milward EA, Moalem S, Sampietro M, Boyer P, Percy ME, et al., 'Is hemochromatosis a risk factor for Alzheimer''s disease?', Journal of Alzheimer''s Disease, 3 471-477 (2001) [C1]
Citations Scopus - 61
Co-authors Liz Milward
2001 Nasioulas S, Jones I, Stjohn D, Scott R, Forrest S, Gardner R, 'Profuse familial adenomatous polyposis with an APC exon 3 mutation', Familial Cancer, 1 3-7 (2001) [C1]
Citations Scopus - 5
2000 Rosell R, Abad A, Scott RJ, Spigelman AD, Iacopetta B, Elsaleh H, et al., 'Tumour site, sex, and survival in colorectal cancer [9] (multiple letters)', Lancet, 356 857-858 (2000)
Citations Scopus - 4
2000 Scott R, Spigelman AD, 'Tumour site, sex, and survival in colorectal cancer', The Lancet, 356 857 (2000) [C3]
2000 Ritz M, Lechner-Scott J, Scott R, Fuhr P, Malik N, Erne B, et al., 'Characterisation of autoantibodies to peripheral myelin protein 22 in patients with hereditary and acquired neuropathies', Journal of Neuroimmunology, 104 155-163 (2000) [C1]
Citations Scopus - 54Web of Science - 44
Co-authors Jeannette Lechner-Scott
2000 Lakhani S, Gusterson B, Jacquemier J, Sloane J, Anderson T, Van De Vijver M, et al., 'The Pathology of Familial Breast Cancer: Histological Features of Cancers in Families Not Attributable to Mutations in BRCA1 or BRCA21', Clinical Cancer Research, 6 782-789 (2000) [C1]
Citations Scopus - 172
1999 Heinimann K, Scott RJ, Buerstedde JM, Weber W, Siebold K, Attenhofer M, et al., 'Influence of selection criteria on mutation detection in patients with hereditary nonpolyposis colorectal cancer', Cancer, 85 2512-2518 (1999)

BACKGROUND. Hereditary nonpolyposis colorectal cancer (HNPCC) is linked genetically to mutations in DNA mismatch repair (MMB) genes. Because a deficiency in MMR does not predict a... [more]

BACKGROUND. Hereditary nonpolyposis colorectal cancer (HNPCC) is linked genetically to mutations in DNA mismatch repair (MMB) genes. Because a deficiency in MMR does not predict a specific phenotype, the original selection criteria may be too restrictive in identifying additional families. The current study was performed to determine whether a relaxation of the Amsterdam criteria (AC) could be applied to identify more families associated with DNA MMB. METHODS. Twenty-eight unrelated Swiss families (15 complying with the AC and 13 fulfilling extended criteria [EC] to include other tumors of the HNPCC spectrum as well) were screened for mutations in the MMR genes hMSH2 and hMLH1, using single-stranded conformation polymorphism and direct DNA sequencing. Microsatellite instability (MSI) was determined in 14 families. A comparison was made between the phenotypic characteristics of the mutation positive and mutation negative families. RESULTS. Ten AC families (67%) harbored germline mutations in hMLH1 (6 kindreds) or hMSH2 (4 kindreds). In none of the EC kindreds could an unambiguous disease-causing mutation be identified. Seven of eight AC families were found to display MSI whereas all colorectal carcinomas (CRC) in eight EC kindreds were MSI stable. CRC patients from mutation positive families had an earlier age at diagnosis (44 years vs. 49 years) and appeared to have a better survival (11.1 years vs. 7.7 years). CONCLUSIONS. Extending the AC to include extracolonic tumors of the HNPCC spectrum results in a very low mutation detection rate for hMSH2 and hMLH1. The EC families appear to represent an alternative genetic entity not necessarily related to DNA MMR gene mutations because they do not display MSI.

DOI 10.1002/(SICI)1097-0142(19990615)85:12&lt;2512::AID-CNCR4&gt;3.0.CO;2-G
Citations Scopus - 35
1999 Heinimann K, Scott RJ, Chappuis P, Weber W, Muller H, Dobbie Z, Hutter P, 'N-acetyltransferase 2 influences cancer prevalence in hMLH1/hMSH2 mutation carriers', CANCER RESEARCH, 59 3038-3040 (1999)
Citations Scopus - 36Web of Science - 32
1999 Scott RJ, Sobol HH, 'Prognostic implications of cancer susceptibility genes: any news?', Recent results in cancer research. Fortschritte der Krebsforschung. Progrès dans les recherches sur le cancer, 151 71-84 (1999)

Recent advances in our understanding of the genetic basis of several inherited predispositions to cancer have raised the possibility that there may be differences in prognosis bet... [more]

Recent advances in our understanding of the genetic basis of several inherited predispositions to cancer have raised the possibility that there may be differences in prognosis between patients harbouring genetic susceptibilities to cancer and persons presenting with sporadic disease. The two best studied models of inherited susceptibilities to cancer will be considered, those of colorectal cancer and familial breast cancer. Familial colorectal cancer can be subdivided into essentially two groups: familial adenomatous polyposis and hereditary non-polyposis colorectal cancer. Familial breast cancer can be subdivided into three groups: those that can be accounted for by mutations in the breast cancer susceptibility gene BRCA 1, families harbouring mutations in BRCA 2 and families where neither BRCA 1 nor BRCA 2 appear to be involved. In this chapter several aspects of these inherited cancer predispositions will be discussed and compared with their equivalent sporadic disease counterparts.

Citations Scopus - 4
1998 Neuhausen SL, Godwin AK, Gershoni-Baruch R, Schubert E, Garber J, Stoppa-Lyonnet D, et al., 'Haplotype and phenotype analysis of nine recurrent BRCA2 mutations in 111 families: Results of an international study', American Journal of Human Genetics, 62 1381-1388 (1998)

Several BRCA2 mutations are found to occur in geographically diverse breast and ovarian cancer families. To investigate both mutation origin and mutation-specific phenotypes due t... [more]

Several BRCA2 mutations are found to occur in geographically diverse breast and ovarian cancer families. To investigate both mutation origin and mutation-specific phenotypes due to BRCA2, we constructed a haplotype of 10 polymorphic short tandem-repeat (STR) markers flanking the BRCA2 locus, in a set of 111 breast or breast/ovarian cancer families selected for having one of nine recurrent BRCA2 mutations. Six of the individual mutations are estimated to have arisen 400-2,000 years ago. In particular, the 6174delT mutation, found in ~1% of individuals of Ashkenazi Jewish ancestry, was estimated to have arisen 29 generations ago (1-LOD support interval 22-38). This is substantially more recent than the estimated age of the BRCA1 185delAG mutation (46 generations), derived from our analogous study of BRCA1 mutations. In general, there was no evidence of multiple origins of identical BRCA2 muta- tions. Our study data were consistent with the previous report of a higher incidence of ovarian cancer in families with mutations in a 3.3-kb region of exon 11 (the ovarian cancer cluster region [OCCR]) (P = .10); but that higher incidence was not statistically significant. There was significant evidence that age at diagnosis of breast cancer varied by mutation (P < .001), although only 8% of the variance in age at diagnosis could be explained by the specific mutation, and there was no evidence of family-specific effects. When the age at diagnosis of the breast cancer cases was examined by OCCR, cases associated with mutations in the OCCR had a significantly older mean age at diagnosis than was seen in those outside this region (48 years vs. 42 years; P = .0005).

DOI 10.1086/301885
Citations Scopus - 117
1998 Heinimann K, Mullhaupt B, Weber W, Attenhofer M, Scott RJ, Fried M, et al., 'Phenotypic differences in familial adenomatous polyposis based on APC gene mutation status', GUT, 43 675-679 (1998)
Citations Scopus - 54Web of Science - 49
1998 Ford D, Easton DF, Stratton M, Narod S, Goldgar D, Devilee P, et al., 'Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families', American Journal of Human Genetics, 62 676-689 (1998)

The contribution of BRCA1 and BRCA2 to inherited breast cancer was assessed by linkage and mutation analysis in 237 families, each with at least four cases of breast cancer, colle... [more]

The contribution of BRCA1 and BRCA2 to inherited breast cancer was assessed by linkage and mutation analysis in 237 families, each with at least four cases of breast cancer, collected by the Breast Cancer Linkage Consortium. Families were included without regard to the occurrence of ovarian or other cancers. Overall, disease was linked to BRCA1 in an estimated 52% of families, to BRCA2 in 32% of families, and to neither gene in 16% (95% confidence interval [CI] 6%-28%), suggesting other predisposition genes. The majority (81%) of the breast-ovarian cancer families were due to BRCA1, with most others (14%) due to BRCA2. Conversely, the majority of families with male and female breast cancer were due to BRCA2 (76%). The largest proportion (67%) of families due to other genes was found in families with four or five cases of female breast cancer only. These estimates were not substantially affected either by changing the assumed penetrance model for BRCA1 or by including or excluding BRCA1 mutation data. Among those families with disease due to BRCA1 that were tested by one of the standard screening methods, mutations were detected in the coding sequence or splice sites in an estimated 63% (95% CI 51%-77%). The estimated sensitivity was identical for direct sequencing and other techniques. The penetrance of BRCA2 was estimated by maximizing the LOD score in BRCA2-mutation families, over all possible penetrance functions. The estimated cumulative risk of breast cancer reached 28% (95% CI 9%-44%) by age 50 years and 84% (95% CI 43%-95%) by age 70 years. The corresponding ovarian cancer risks were 0.4% (95% CI 0%- 1%) by age 50 years and 27% (95% CI 0%-47%) by age 70 years. The lifetime risk of breast cancer appears similar to the risk in BRCA1 carriers, but there was some suggestion of a lower risk in BRCA2 carriers <50 years of age.

DOI 10.1086/301749
Citations Scopus - 2093
1998 Lakhani SR, Jacquemier J, Sloane JP, Gusterson BA, Anderson TJ, Van De Vijver MJ, et al., 'Multifactorial analysis of differences between sporadic breast cancers and cancers involving BRCA1 and BRCA2 mutations', Journal of the National Cancer Institute, 90 1138-1145 (1998)

Background: We have previously demonstrated that breast cancers associated with inherited BRCA1 and BRCA2 gene mutations differ from each other in their histopathologic appearance... [more]

Background: We have previously demonstrated that breast cancers associated with inherited BRCA1 and BRCA2 gene mutations differ from each other in their histopathologic appearances and that each of these types differs from breast cancers in patients unselected for family history (i.e., sporadic cancers). We have now conducted a more detailed examination of cytologic and architectural features of these tumors. Methods: Specimens of tumor tissue (5-µm-thick sections) were examined independently by two pathologists, who were unaware of the case or control subject status, for the presence of cell mitosis, lymphocytic infiltration, continuous pushing margins, and solid sheets of cancer cells; cell nuclei, cell nucleoli, cell necrosis, and cell borders were also evaluated. The resulting data were combined with previously available information on tumor type and tumor grade and further evaluated by multifactorial analysis. All statistical tests are two-sided. Results: Cancers associated with BRCA1 mutations exhibited higher mitotic counts (P = .001), a greater proportion of the tumor with a continuous pushing margin (P<.0001), and more lymphocytic infiltration (P = .002) than sporadic (i.e., control) cancers. Cancers associated with BRCA2 mutations exhibited a higher score for tubule formation (fewer tubules) (P = .0002), a higher proportion of the tumor perimeter with a continuous pushing margin (P<.0001), and a lower mitotic count (P = .003) than control cancers. Conclusions: Our study has identified key features of the histologic phenotypes of breast cancers in carriers of mutant BRCA1 and BRCA2 genes. This information may improve the classification of breast cancers in individuals with a family history of the disease and may ultimately aid in the clinical management of patients.

Citations Scopus - 490
1998 Maier D, Zhang Z, Taylor E, Hamou MF, Gratzl O, Van Meir EG, et al., 'Somatic deletion mapping on chromosome 10 and sequence analysis of PTEN/MMAC1 point to the 10q25-26 region as the primary target in low-grade and high-grade gliomas', Oncogene, 16 3331-3335 (1998)

The 10q25-26 region between the dinucleotide markers D10S587 and D10S216 is deleted in glioblastomas and, as we have recently shown, in low-grade oligodendrogliomas. We further re... [more]

The 10q25-26 region between the dinucleotide markers D10S587 and D10S216 is deleted in glioblastomas and, as we have recently shown, in low-grade oligodendrogliomas. We further refined somatic mapping on 10q23-tel and simultaneously assessed the role of the candidate tumor suppressor gene PTEN/MMAC1 in glial neoplasms by sequence analysis of eight low-grade and 24 high-grade gliomas. These tumors were selected for partial or complete loss of chromosome 10 based on deletion mapping with increased microsatellite marker density at 10q23-tel. Three out of eight (38%) low-grade and 3/24 (13%) high-grade gliomas exclusively target 10q25-26. We did not find a tumor only targeting 10q23.3, and most tumors (23/32 72%) showed large deletions on 10q including both regions. The sequence analysis of PTEN/MMAC1 revealed nucleotide alterations in 1/8 (12.5%) low-grade gliomas in a tumor with LOH at l0q21-qtel and in 5/21 (24%) high-grade gliomas displaying LOH that always included 10q23-26. Our refined mapping data point to the 10q25-26 region as the primary target on 10q, an area that also harbors the DMBT1 candidate tumor suppressor gene. The fact that we find hemizygous deletions at 10q25-qtel in low-grade astrocytomas and oligodendrogliomas - two histologically distinct entities of gliomas - suggests the existence of a putative suppressor gene involved early in glial tumorigenesis.

Citations Scopus - 85
1997 Garvin AM, Attenhofer-Haner M, Scott RJ, 'BRCA1 and BRCA2 mutation analysis in 86 early onset breast/ovarian cancer patients', Journal of Medical Genetics, 34 990-995 (1997)

Eighty-six women fulfilling specific selection criteria were studied for germline mutations in two breast cancer susceptibility genes, BRCA1 and BRCA2, using the protein truncatio... [more]

Eighty-six women fulfilling specific selection criteria were studied for germline mutations in two breast cancer susceptibility genes, BRCA1 and BRCA2, using the protein truncation test (PTT). Nine germline mutations were identified, six in BRCA1 and three in BRCA2. Of the six BRCA1 mutations, three have previously been described and three are new, and for BRCA2, one is a new mutation and the other two appear to occur at a site that has been described several times. Four kindreds were breast cancer families, one a breast/ovarian cancer family, and the sixth an ovarian cancer family. The three kindreds with BRCA2 mutations were classified as one breast/ovarian cancer family, one breast cancer family, and one family which harboured one early onset breast cancer patient and two melanoma patients. The mutations in BRCA1 were either insertions, deletions, or transitions which all resulted in a premature stop codon. Mutations in BRCA2 were all frameshift mutations as a result of either 2 or 4 bp deletions. Two BRCA2 mutations were identical, suggesting a Swiss founder effect which was confirmed by haplotype sharing. The 10% mutation detection rate is compatible with the relaxed criteria used for patient selection. Considering the relative ease with which coding sequences can be screened by PTT, this assay is useful as a first screen for BRCA1 and BRCA2 mutations.

Citations Scopus - 7
1997 Andreutti-Zaugg C, Scott RJ, Iggo R, 'Inhibition of nonsense-mediated messenger RNA decay in clinical samples facilitates detection of human MSH2 mutations with an in vivo fusion protein assay and conventional techniques', Cancer Research, 57 3288-3293 (1997)

Germ-line mutations in the human MSH2 (hMSH2) gene account for about 40% of known defects in kindreds with hereditary nonpolyposis colon cancer. We describe a simple fusion protei... [more]

Germ-line mutations in the human MSH2 (hMSH2) gene account for about 40% of known defects in kindreds with hereditary nonpolyposis colon cancer. We describe a simple fusion protein assay for detection of hMSH2 nonsense mutations in yeast. Detection of nonsense mutations with this assay is severely compromised in many cases by nonsense-mediated mRNA decay, a physiological process that destabilizes the mutant RNA. Triggering of nonsense-mediated decay requires mRNA scanning by the ribosome to detect the stop codon. We show that treatment of cells with the translation inhibitor puromycin suppresses nonsense-mediated decay and facilitates the detection of nonsense mutations in clinical samples by cDNA sequencing, in vitro protein truncation tests, and the yeast fusion protein assay. Given the prevalence of chain-terminating mutations in human disease genes, puromycin treatment of blood samples should improve the signal-to-noise ratio and hence the sensitivity of many RNA-based diagnostic tests. Paradoxically, the yeast hMSH2::ADE2 fusion protein assay also detects some in-frame mutations, presumably through an effect on the folding of the fusion protein.

Citations Scopus - 63
1997 Heinimann K, Müller H, Weber W, Scott RJ, 'Disease expression in Swiss Hereditary Non-Polyposis Colorectal Cancer (HNPCC) kindreds', International Journal of Cancer, 74 281-285 (1997)

The genetics of Hereditary Non-Polyposis Colorectal Cancer (HNPCC) has recently been established and found to be associated with DNA mismatch repair deficiency. As the molecular b... [more]

The genetics of Hereditary Non-Polyposis Colorectal Cancer (HNPCC) has recently been established and found to be associated with DNA mismatch repair deficiency. As the molecular basis of this syndrome does not appear to predict any particular disease, we compared families selected according to the 'Amsterdam' criteria (AC) against families that were selected because of an aggregation of colonic and extracolonic malignancies (EC), all of which have been observed in HNPCC families. A comparison of the 2 groups revealed that there were significant differences between them. Age at disease onset for both groups was 20-30 years younger than in the general population; however, a normal age distribution was observed for the AC group whereas for the EC group a bimodal distribution was apparent. The prognosis for both groups together did not differ from that of the general population; however, if split, the AC group had a significantly better outcome than the EC group. Furthermore, dividing the AC group into hMSH2- and hMLH1-linked families revealed that there was no difference in severity of disease between these 2 groups with respect to survival and mean age of disease onset. Both the AC and EC groups displayed a similar tumour spectrum with a virtually identical tumour distribution. A significant finding was the overrepresentation, of brain tumours in this family set, which comprised the third most common malignancy after endometrial and stomach cancer.

DOI 10.1002/(SICI)1097-0215(19970620)74:3&lt;281::AID-IJC8&gt;3.0.CO;2-V
Citations Scopus - 24
1997 Hamann U, Häner M, Stosiek U, Bastert G, Scott RJ, 'Low frequency of BRCA1 germline mutations in 45 German breast/ovarian cancer families', Journal of Medical Genetics, 34 884-888 (1997)

In this study we investigated 45 German breast/ovarian cancer families for germline mutations in the BRCA1 gene. We identified four germline mutations in three breast cancer famil... [more]

In this study we investigated 45 German breast/ovarian cancer families for germline mutations in the BRCA1 gene. We identified four germline mutations in three breast cancer families and in one breast-ovarian cancer family. Among these were one frameshift mutation, one nonsense mutation, one novel splice site mutation, and one missense mutation. The missense mutation was also found in 2.8% of the general population, suggesting that it is not disease associated. The average age of disease onset in those families harbouring causative mutations was between 32.3 and 37.4 years, whereas the family harbouring the missense mutation had an average age of onset of 51.2 years. These findings show that BRCA1 is implicated in a small fraction of breast/ovarian cancer families suggesting the involvement of another susceptibility gene(s).

Citations Scopus - 12
1997 Shattuck-Eidens D, Oliphant A, McClure M, McBride C, Gupte J, Rubano T, et al., 'BRCA1 sequence analysis in women at high risk for susceptibility mutations: Risk factor analysis and implications for genetic testing', Journal of the American Medical Association, 278 1242-1250 (1997)

Context. - A mutation in the BRCA1 gene may confer substantial risk for breast and/or ovarian cancer. However, knowledge regarding all possible mutations and the relationship betw... [more]

Context. - A mutation in the BRCA1 gene may confer substantial risk for breast and/or ovarian cancer. However, knowledge regarding all possible mutations and the relationship between risk factors and mutations is incomplete. Objectives. - To identify BRCA1 mutations and to determine factors that best predict presence of a deleterious BRCA1 mutation in patients with breast and/or ovarian cancer. Design. - A complete sequence analysis of the BRCA1 coding sequence and flanking intronic regions was performed in 798 women in a collaborative effort involving institutions from the United States, Italy, Germany, Finland, and Switzerland. Participants. - Institutions selected 798 persons representing families (1 person for each family) thought to be at elevated a priori risk of BRCA1 mutation due to potential risk factors, such as multiple cases of breast cancer, early age of breast cancer diagnosis, and cases of ovarian cancer. No participant was from a family in which genetic markers showed linkage to the BRCA1 locus. Major Outcome Measures. - Sequence variants detected in this sample are presented along with analyses designed to determine predictive characteristics of those testing positive for BRCA1 mutations. Results. - In 102 women (12.8%), clearly deleterious mutations were detected. Fifty new genetic alterations were found including 24 deleterious mutations, 24 variants of unknown significance, and 2 rare polymorphisms. In a subset of 71 Ashkenazi Jewish women, only 2 distinct deleterious mutations were found: 185delAG in 17 cases and 5382insC in 7 cases. A bias in prior reports for mutations in exon 11 was revealed. Characteristics of a patient's specific diagnosis (unilateral or bilateral breast cancer; with or without ovarian cancer), early age at diagnosis. Ashkenazi Jewish ethnicity, and family history of cancer were positively associated with the probability of her carrying a deleterious BRCA1 mutation. Conclusions. - Using logistic regression analysis, we provide a method for evaluating the probability of a woman's carrying a deleterious BRCA1 mutation for a wide range of cases, which can be an important tool for clinicians as they incorporate genetic susceptibility testing into their medical practice.

Citations Scopus - 319
1997 Dobbie Z, Heinimann K, Bishop DT, Müller H, Scott RJ, 'Identification of a modifier gene locus on chromosome 1p35-36 in familial adenomatous polyposis', Human Genetics, 99 653-657 (1997)

Phenotypic variability based on nonallelic heterogeneity is a characteristic feature of the dominantly inherited disease, familial adenomatous polyposis (FAP). A modifying locus, ... [more]

Phenotypic variability based on nonallelic heterogeneity is a characteristic feature of the dominantly inherited disease, familial adenomatous polyposis (FAP). A modifying locus, called Mom-1, which strongly influences disease expression has been mapped in the mouse model of FAP to the region of murine chromosome 4, which has synteny to human chromosome 1p35-36. In the present study, this chromosomal region was investigated by using 14 microsatellite markers within a large FAP kindred in which patients harbor the same germ-line mutation but show markedly different disease characteristics. The linkage program MLINK was used to determine whether any correlation exists between these markers and the development of extracolonic symptoms in polyposis coli patients. Depending on the mode of inheritance of the affected locus, a maximum lod score was observed for markers D1S211 and D1S197, reaching 2.08 and 1.77, respectively. The observed values obtained within one large FAP family are supportive of a phenotype-modifying locus within this chromosomal region.

DOI 10.1007/s004390050423
Citations Scopus - 43
1997 Scott RJ, 'DNA mismatch repair and hereditary nonpolyposis colorectal cancer', Onkologie, 20 42-47 (1997)

Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominantly inherited disorder which is characterized by the absence of a premalignant phenotype. Until recently, ... [more]

Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominantly inherited disorder which is characterized by the absence of a premalignant phenotype. Until recently, the only method to identify persons with a predisposition to develop colorectal cancer was by rigorous anamnestic questioning of their family history. The recent discovery that mutations in genes associated with mismatch repair predispose persons to the development of HNPCC has on the one hand provided a more accurate alternative to pedigree analysis but on the other is accompanied by special difficulties with respect to genetic counselling. This review focuses on what is meant by HNPCC, the current knowledge of mismatch repair, mismatch repair gene mutations, their resulting genetic phenotype, its implication in tumour development and screening alternatives for gene carriers.

Citations Scopus - 2
1997 Maier D, Comparone D, Taylor E, Zhang Z, Gratzl O, Van Meir EG, et al., 'New deletion in low-grade oligodendroglioma at the glioblastoma suppressor locus on chromosome 10q25-26', Oncogene, 15 997-1000 (1997)

Loss of heterozygosity on chromosome 10 is considered to be associated with the progression of glioblastomas. Two closely related regions have recently been proposed to contain th... [more]

Loss of heterozygosity on chromosome 10 is considered to be associated with the progression of glioblastomas. Two closely related regions have recently been proposed to contain the glioblastoma suppressor locus on chromosome 10q25-26; a 1 cM region between the polymorphic (CA)(n)-repeat markers D10S587 and D10S216, and an area of 5 cM between the markers D10S221 and D10S209. To confirm and further delineate this region, we analyzed 51 glioblastomas and 11 intermediate and low-grade gliomas for loss of heterozygosity on chromosome 10, 47/62 mostly malignant gliomas displayed complete loss of chromosome 10 and nine tumors were unaltered, whereas four glioblastomas and two low-grade oligodendrogliomas had partial loss on distal 10q. With these six tumors, we constructed a deletion map with increased marker density at 10q25-26 which shows two centromeric breakpoints at the markers D10S587 and D10S216, thus only confirming the distal, but not the proximal candidate glioblastoma suppressor locus. Two out of four low-grade oligodendrogliomas displayed partial deletions on 10q25-26. This suggests that deletion on chromosome 10 is not merely a late event in the progression of glioblastomas, but could play a role earlier in the development of gliomas.

Citations Scopus - 49
1997 Humar B, Müller H, Scott RJ, 'Elevated frequency of p53-independent apoptosis after irradiation increases levels of DNA breaks in ataxia telangiectasia lymphoblasts', International Journal of Radiation Biology, 72 257-269 (1997)

Ataxia telangiectasia is a recessive genetic disease featuring cerebellar degeneration, developmental abnormalities, high cancer risk, immunodeficiency, and radiosensitivity. Incr... [more]

Ataxia telangiectasia is a recessive genetic disease featuring cerebellar degeneration, developmental abnormalities, high cancer risk, immunodeficiency, and radiosensitivity. Increased levels of unrepaired DNA breaks have been observed in irradiated ataxia telangiectasia cells compared to normal cells but no specific DNA break rejoining rate deficiency has been defined. Alterations in radiation-induced p53-dependent apoptosis have been reported for ataxia telangiectasia cells. This study investigated the radiation response of ataxia telangiectasia lymphoblastoid cells using the comet assay and uncovered a new feature of this technique, namely its capacity to preferentially detect living cells. It is shown here that early after exposure to ¿-rays, ataxia telangiectasia lymphoblasts exhibit an elevated frequency of cells committed to die via apoptosis. The observed apoptosis, which is likely to be independent of p53, leads to a higher number of DNA breaks during the first 3 h post irradiation in ataxia telangiectasia cells, relative to controls. Apart from cells undergoing apoptosis, ataxia telangiectasia lymphoblasts have an identical capacity to rejoin radiation-induced DNA breaks as controls. Results suggest that p53- independent apoptosis may contribute to the radiosensitivity and the immune defects of ataxia telangiectasia patients.

DOI 10.1080/095530097143257
Citations Scopus - 27
1997 Garvin AM, Eppenberger U, Müller H, Eppenberger-Castori S, Scott RJ, 'BRCA1 mutations found in archived early onset breast tumours', European Journal of Cancer Part A, 33 683-686 (1997)

Inherited mutations in the BRCA1 gene are thought to account for approximately 5% of breast cancers in women under the age of 45 years. In order to determine whether mutations cou... [more]

Inherited mutations in the BRCA1 gene are thought to account for approximately 5% of breast cancers in women under the age of 45 years. In order to determine whether mutations could be found at the expected frequency, 60% of the protein coding region of BRCA1 was screened in 75 archived early-onset breast tumours, taken from women under 45 years of age. Two of the 75 tumours (2.7%) had detectable mutations, in close agreement to that predicted. Since BRCA1 mutations found in breast tumours are invariably germline, two immediate consequences are apparent. Firstly, family members of affected patients are likely to carry mutations as well, and should be considered for BRCA1 screening; and secondly, persons harbouring a germline BRGA1 mutation should be examined frequently and indefinitely for new primary tumours in remaining breast tissue.

DOI 10.1016/S0959-8049(96)00499-6
Citations Scopus - 5
1997 Scott RJ, Taeschner W, Heinimann K, Müller H, Dobbie Z, Morgenthaler S, et al., 'Association of extracolonic manifestations of familial adenomatous polyposis with acetylation phenotype in a large FAP kindred', European Journal of Human Genetics, 5 43-49 (1997)

Familial adenomatous polyposis coli (FAP) has been shown to be associated with germline mutations of the adenomatous polyposis gene (APC) on chromosome 5. Extra-colonic manifestat... [more]

Familial adenomatous polyposis coli (FAP) has been shown to be associated with germline mutations of the adenomatous polyposis gene (APC) on chromosome 5. Extra-colonic manifestations also occur in FAP and include desmoid tumors, epidermoid cysts and osteomas. The combination of FAP with extracolonic symptoms is commonly referred to as Gardner's sydrome. It remains difficult, however, to predict which patients may have a propensity to develop extracolonic manifestations. The rapid acetylation phenotype is believed to be associated with an increased likelihood of sporadic colorectal cancer, whereas the slow acetylation phenotype is recognized as a predisposing factor for bladder cancer. The slow acetylation phenotype is caused by mutant alleles of the cytosolic enzyme N-acetyltransferase (NAT2). In this study, we determined the NAT2 genotype in members of one large FAP family and three smaller ones all of which had been shown to harbor the same germline APC gene mutation. We observed a significant correlation between slow acetylation genotypes and extracolonic manifestations of the disease. Rapid acetylation genotypes were not overrepresented in colorectal cancer cases in this family as compared to the frequency of this genotype in the normal Caucasian population.

Citations Scopus - 15
1997 Hamann U, Brauch H, Garvin AM, Bastert G, Scott RJ, 'German family study on hereditary breast and/or ovarian cancer: Germline mutation analysis of the BRCA1 gene', Genes Chromosomes and Cancer, 18 126-132 (1997)

Women harboring BRCA1 germline mutations carry an 85% lifetime risk of developing breast cancer and a 63% risk of ovarian cancer. In this first systematic study of familial breast... [more]

Women harboring BRCA1 germline mutations carry an 85% lifetime risk of developing breast cancer and a 63% risk of ovarian cancer. In this first systematic study of familial breast and/or ovarian cancer in Germany we investigated 29 families for germline mutations in the BRCA1 gene. We identified mutations in three breast cancer families and in four breast- ovarian cancer families. The mutations include one missense mutation, one frameshift mutation, one splice mutation, and four nonsense mutations cosegregating with breast and/or ovarian susceptibility in five of ten (50%) families showing positive evidence of linkage to chromosome band 17q21 and in two of 19 (11%) families where linkage data was not available. Two apparently unrelated families carried the same nonsense mutation at codon 1835 and three families harbored a C to T transition at nucleotide 49 of the untranslated exon 4. Allelotyping of the markers D17S855, D17S1322, D17S1323, and D17S1327 located within or near BRCA1 revealed that all affected individuals in the two families harboring the mutation at codon 1835 shared at least one allele indicating a founder mutation. With respect to the overall mutation spectrum, no mutations were identified in exon 11 (0/7) in this set of German families. These findings differed significantly from those in British (17/32)(P = 0.012) and Southern Swedish (13/15) (P < 0.001) families. The lack of BRCA1 mutations in exon 11 which represents 61% of the entire coding sequence may provide additional insight into BRCA1 associated breast and ovarian tumor development.

DOI 10.1002/(SICI)1098-2264(199702)18:2&lt;126::AID-GCC7&gt;3.0.CO;2-4
Citations Scopus - 18
1997 Lechner-Scott J, Steck AJ, Scott RJ, 'Genetic analyses in neurology', Schweizerische Medizinische Wochenschrift, 127 1141-1153 (1997)

The use of either direct or indirect genetic analyses in neurology is becoming ever greater as more genes are identified thanks to the human genome project. Often the methodologie... [more]

The use of either direct or indirect genetic analyses in neurology is becoming ever greater as more genes are identified thanks to the human genome project. Often the methodologies are complex and difficult to understand. The aim of this review is to present various approaches to molecular diagnosis using several different inherited neurological diseases as examples. These include inherited mitochondriopathies, monogenetic disorders like trinucleotid repeat instability syndromes, duplication anomalies and specific point mutations as well as heterogenetic diseases such as limb girdle dystrophy and familial amyotrophic lateral sclerosis. Possible pathogenetic implications can now be proposed as the basis of new therapeutic modalities.

Co-authors Jeannette Lechner-Scott
1996 Scott RJ, van der Luijt R, Spycher M, Mary JL, Muller A, Hoppeler T, et al., 'Novel germline APC gene mutation in a large familial adenomatous polyposis kindred displaying variable phenotypes.', Gut, 38 794 (1996)
Citations Scopus - 3
1996 Garvin AM, Spycher M, Häner M, Torhorst J, Müller H, Herrmann R, et al., 'BRCA1 mutations in a selected series of breast/ovarian cancer patients', Journal of Medical Genetics, 33 721-725 (1996)

Germline mutations in the BRCA1 gene have been associated with familial breast/ ovarian cancer in large families showing high penetrance of the disease. Little is known, however, ... [more]

Germline mutations in the BRCA1 gene have been associated with familial breast/ ovarian cancer in large families showing high penetrance of the disease. Little is known, however, about the contribution of BRCA1 mutations to breast/ovarian cancer in small families with few affected members or in isolated early onset cases. Therefore we examined the BRCA1 gene in 63 breast/ovarian cancer patients who either came from small families with as few as one affected first degree relative, or in patients who had no family history but had developed breast cancer under 40 years of age. Using the protein truncation test, we were able to identify three unique BRCA1 germline mutations (4.8%). Two of the probands had only one affected first degree and several second degree relatives and the third had three affected first degree relatives including two sisters who, when tested, were also found to carry the mutation. There was no family history of ovarian cancer in any of the three families.

Citations Scopus - 8
1996 Dobbie Z, Spycher M, Mary JL, Häner M, Guldenschuh I, Hürliman R, et al., 'Correlation between the development of extracolonic manifestations in FAP patients and mutations beyond codon 1403 in the APC gene', Journal of Medical Genetics, 33 274-280 (1996)

The APC gene was investigated in 31 unrelated polyposis coli families by SSCP analysis and the protein truncation test. Twenty-three germline mutations were identified which gave ... [more]

The APC gene was investigated in 31 unrelated polyposis coli families by SSCP analysis and the protein truncation test. Twenty-three germline mutations were identified which gave rise to a variety of different phenotypes. Some of these mutations have already been described; however we report six previously unpublished mutations. Typical disease symptoms were observed in families who harboured mutations between exon 4 (codon 169) and codon 1393 of exon 15. Mutations beyond codon 1403 were associated with more varied phenotype with respect to the development of extracolonic symptoms. In this report we provide support for the notion that there appears to be a correlation between the location of an APC mutation (beyond codon 1403) and extracolonic manifestations of familial adenomatous polyposis.

Citations Scopus - 71
1996 Hutter P, Couturier A, Scott RJ, Alday P, Delozier-Blanchet C, Cachat F, et al., 'Complex genetic predisposition to cancer in an extended HNPCC family with an ancestral hMLH1 mutation', Journal of Medical Genetics, 33 636-640 (1996)

Hereditary non-polyposis colorectal cancer (HNPCC) is characterised by a genetic predisposition to develop colorectal cancer at an early age and, to a lesser degree, cancer of the... [more]

Hereditary non-polyposis colorectal cancer (HNPCC) is characterised by a genetic predisposition to develop colorectal cancer at an early age and, to a lesser degree, cancer of the endometrium, ovaries, urinary tract, and organs of the gastrointestinal tract other than the colon. In the majority of families the disease is linked to mutations in one of the two mismatch repair genes, hMSH2 or hMLH1. We have found a novel hMLH1 nonsense mutation in a Swiss family with Lynch syndrome, which has been transmitted through at least nine generations. A different tumour spectrum of neoplasms of the skin, soft palate, breast, duodenum, and pancreas was observed in three branches of this family, where there was a virtual absence of colonic tumours. The hMLH1 mutation could not be detected in members of these branches suggesting that at least a second genetic defect predisposing to cancer is segregating in part of the kindred.

Citations Scopus - 29
1996 Merlo A, Rochlitz C, Scott R, 'Survival of patients with Turcot's syndrome and glioblastoma [5]', New England Journal of Medicine, 334 736-737 (1996)
DOI 10.1056/NEJM199603143341118
Citations Scopus - 10
1996 Garvin AM, Mueller H, Eppenberger-Castori S, Eppenberger URS, Scott RJ, 'Informed consent and BRCA1 mutation detection in archived breast tumour specimens [10]', Lancet, 347 189 (1996)
1996 Garvin AM, Mueller H, Eppenberger-Castori S, Eppenberger UR, Scott RJ, 'Informed consent and BRCA1 mutation detection in archived breast tumor specimens.', Lancet, 347 1189 (1996)
Citations Scopus - 3
1996 Dobbie Z, Müller H, Scott RJ, 'Secretory phospholipase A2 does not appear to be associated with phenotypic variation in familial adenomatous polyposis', Human Genetics, 98 386-390 (1996)

Recent studies in mice have provided strong evidence for a modifier gene that is capable of effecting the expression of the mouse equivalent of familial adenomatous polyposis (FAP... [more]

Recent studies in mice have provided strong evidence for a modifier gene that is capable of effecting the expression of the mouse equivalent of familial adenomatous polyposis (FAP). A candidate gene has been proposed, namely secretory phospholipase A2 (sPLA2). Increased tumor number in mice was con-elated with low levels of sPLA2 expression and the presence of truncating mutations within the sPLA2 gene. In an attempt to determine whether any genetic alterations in the sPLA2 gene were associated with the expression of FAP in man, we investigated the genetic structure of sPLA2 in 97 polyposis coli patients presenting with various disease phenotypes, and its expression in 8 FAP patients displaying markedly different disease characteristics. In the current study no inactivating mutations in the sPLA2 gene were identified, suggesting that human sPLA2 is not associated with phenotypic variation in FAP.

DOI 10.1007/s004390050226
Citations Scopus - 27
1996 Van Der Luijt RB, Meera Khan P, Vasen HFA, Breukel C, Tops CMJ, Scott RJ, Fodde R, 'Germline mutations in the 3' part of APC exon 15 do not result in truncated proteins and are associated with attenuated adenomatous polyposis coli', Human Genetics, 98 727-734 (1996)

Familial adenomatous polyposis (FAP) is an inherited predisposition to colorectal cancer characterized by the development of numerous adenomatous polyps predominantly in the color... [more]

Familial adenomatous polyposis (FAP) is an inherited predisposition to colorectal cancer characterized by the development of numerous adenomatous polyps predominantly in the colorectal region. Germline mutations in the adenomatous polyposis coli (APC) gene are responsible for most cases of FAP. Mutations at the 5' end of APC are known to be associated with a relatively mild form of the disease, called attenuated adenomatous poly posis coli (AAPC). We identified a frameshift mutation in the 3' part of exon 15, resulting in a stop codon at 1862, in a large Dutch kindred with AAPC. Western blot analysis of lymphoblastoid cell lines derived from affected family members from this kindred, as well as from a previously reported Swiss family carrying a frameshift mutation at codon 1987 and displaying a similar attenuated phenotype, showed only the wild-type APC protein. Our study indicates that chain-terminating mutations located in the 3' part of APC do not result in detectable truncated polypeptides and we hypothesize that this is likely to be the basis for the observed AAPC phenotype.

DOI 10.1007/s004390050293
Citations Scopus - 125
1996 Scott RJ, Froggatt NJ, Trembath RC, Evans DGR, Hodgson SV, Maher ER, 'Familial infiltrative fibromatosis (desmoid tumours) (MIM135290) caused by a recurrent 3' APC gene mutation', Human Molecular Genetics, 5 1921-1924 (1996)

Desmoid tumours are generally very rare but occur about 100 times more frequently in the colorectal cancer predisposition syndrome familial adenomatous polyposis (MIM 175100), bei... [more]

Desmoid tumours are generally very rare but occur about 100 times more frequently in the colorectal cancer predisposition syndrome familial adenomatous polyposis (MIM 175100), being represented in about 10% of patients. In addition to desmoid disease occurring in familial adenomatous polyposis (FAP) there exist familial infiltrative fibromatosis (MIM 135290) kindreds where there is no evidence of FAP. Previously we have described a kindred with familial infiltrative fibromatosis (FIF) in which desmoid tumours were associated with nonpolyposis colorectal cancer. FAP is caused by mutations in the APC gene and various genotype-phenotype relationships have been defined including reports that colorectal polyposis is less severe with mutations 5' to codon 157 and that the risk of desmoid tumours is high in FAP patients with APC gene mutations between codons 1444 and 1598. There is relatively little information on the phenotype of APC gene mutations 3' to codon 1598; however, one large family has been reported with a mutation at codon 1987 which presents with a highly variable pheolotype which includes desmoid disease. We screened our original FIF kindred and three further families with a similar phenotype for mutations in the APC gene. A 4 bp frameshift deletion in codon 1962 was identified in the original FIF kindred and two further apparently unrelated families. Haplotype analysis suggests a common origin for the APC mutation in all three families. Affected individuals had no evidence of congenital hypertrophy of the retinal pigment epithelium. Colorectal polyposis was variable, and most affected patients had either none or a few late onset polyps. These findings demonstrate (i) that FAP and FIF are allelic, and (ii) that APC gene mutations which truncate the APC protein distal to the beta-catenin binding domain are associated with desmoid tumours, absent CHRPE and variable but attenuated polyposis expression.

Citations Scopus - 104
1995 Scott RJ, Van der Luijt R, Spycher M, Mary JL, Muller A, Hoppeler TH, et al., 'Novel germline APC gene mutation in a large familial adenomatous polyposis kindred displaying variable phenotypes', Gut, 36 731-736 (1995)

The APC gene is mutated in the germline of people from families where there is a predisposition to develop polyposis coli. Many mutations have been described but the relation betw... [more]

The APC gene is mutated in the germline of people from families where there is a predisposition to develop polyposis coli. Many mutations have been described but the relation between their site and the phenotypic expression of the disease remains unclear. The most commonly seen mutation occurs at codon 1309. Many other mutations have been described towards the 3' end of exon 15 of the APC gene but comparatively few have been seen towards the 3' end. Recent reports have indicated the possibility of a functional boundary with respect to severity and age of onset of disease, which lies towards the 3' end of the gene. This report describes a large family whose affected members present with a very variable phenotype ranging from an early onset and severe form to a comparatively mild later onset one. The mutation that predisposes to disease in this family is at a previously undescribed site that lies towards the 3' end of exon 15 of the APC gene, which results in a stop codon. Interestingly, the stop codon is 63 codons downstream of the mutation and therefore may affect the expression of the disease. The addition of this mutation to the growing list of mutations described in the APC gene may provide some insight into the genotype/phenotype relation of the disease thus contributing to the understanding and significance of mutations at specific sites in the APC gene.

Citations Scopus - 63
1995 Buerstedde JM, Alday P, Torhorst J, Weber W, Müller H, Scott R, 'Detection of new mutations in six out of 10 Swiss HNPCC families by genomic sequencing of the hMSH2 and hMLH1 genes', Journal of Medical Genetics, 32 909-912 (1995)

The cancer predisposition in most HNPCC families is believed to be associated with mutations in the human mismatch repair gene homologues hMSH2 and hMLH1. We searched for mutation... [more]

The cancer predisposition in most HNPCC families is believed to be associated with mutations in the human mismatch repair gene homologues hMSH2 and hMLH1. We searched for mutations in our collection of 10 Swiss HNPCC families by sequencing the exons and exon/intron boundaries of the hMSH2 and hMLH1 genes. In four families we found different mutations which are expected to lead to protein truncations of either the hMSH2 or the hMLH1 proteins owing to premature in frame stop codons or splice defects. In two more families we detected mutations leading to an amino acid deletion and an amino acid substitution in an evolutionary conserved residue respectively. None of these mutations has been reported in other families, which is consistent with the notion that HNPCC associated hMSH2 and hMLHI mutations are heterogeneous and there is no striking founder effect in the Swiss population. Whenever this could be investigated, the presence of the mutations was confirmed in other family members who showed manifestations of HNPCC. Interestingly, an obligate carrier in one of the families developed a brain tumour at the age of 29, histologically verified as a glioblastoma multiforme, which was recently linked to HNPCC in the context of Turcot's syndrome.

DOI 10.1136/jmg.32.11.909
Citations Scopus - 66
1995 Muller H, Scott RJ, 'tumor suppressor gene mutations in the germ line: Their occurrence in familial and sporadic cancer', Schweizerische Medizinische Wochenschrift, 125 1445-1454 (1995)

Since the discovery of the retinoblastoma tumor suppressor gene many others have been described associated with a variety of different familial syndromes. These include the Li-Fra... [more]

Since the discovery of the retinoblastoma tumor suppressor gene many others have been described associated with a variety of different familial syndromes. These include the Li-Fraumeni syndrome, familial breast/ovarian cancer, multiple endocrine neoplasia (MEN1), neurofibromatosis 1 and 2, tuberous sclerosis and von Hippel-Lindau disease. Persons harboring a germ line mutation in a tumor suppressor gene are not born with disease, merely the predisposition to develop one. This is due to the fact that they have inherited only one functional copy compared to persons with no predisposition who have two copies. Germ line mutations have not to be inherited, they can result from a spontaneous mutation occurring during gametogenesis in one parent. Persons with an inherited or de-novo germ line mutation have similar risks to develop multiple cancer or to transmit the defective gene to their offspring. The genes can be analyzed by molecular genetic techniques allowing for a precise genetic diagnosis as well as reliable genetic counselling.

Citations Scopus - 1
1995 Müller H, Scott RJ, 'Familial colorectal and breast carcinoma--genetic counseling and presymptomatic diagnosis', Therapeutische Umschau. Revue thérapeutique, 52 826-834 (1995)

Several types of hereditary cancer can be prevented from progressing to advanced stages by regular surveillance of the person at risk and hence by the early treatment of a develop... [more]

Several types of hereditary cancer can be prevented from progressing to advanced stages by regular surveillance of the person at risk and hence by the early treatment of a developing neoplasia. Genetic counselling of such patients and their relatives is therefore an important task whose value often remains unrecognized. This is especially true for the common forms of hereditary cancer such as breast and colorectal cancer, which aggregate in up to 5% of all patients according to the rules of autosomal-dominant inheritance. Preventive measures are particularly promising in the case of familial cancer because persons at risk are motivated to seek medical help. Genetic counselling is a multifaceted process and involves more than an accurate diagnosis and risk estimate. The counseled patient expects and deserves an open and reasonable answer to his questions about the implications of his/her cancer predisposition or his family history. Accurate diagnosis of the underlying susceptibility is the cornerstone of genetic counselling because most cancers seem to have multiple causes. Different genes located on different chromosomes can independently give rise to the same malignancy. Besides heterogeneity, presymptomatic testing for inherited susceptibilities to cancer raises many issues including therapy, access, intense anxiety, and discrimination.

Citations Scopus - 1
1995 Lechner-Scott JS, Scott RJ, Steck AJ, Kappos L, 'Hereditary motor and sensory neuropathies. Clinical and molecular genetic aspects', Schweizer Archiv für Neurologie und Psychiatrie (Zurich, Switzerland : 1985), 146 157-167 (1995)

Hereditary motor sensory neuropathies are a heterogeneous group of inherited diseases of the peripheral nerves. In this review the clinical and genetic differences between the sub... [more]

Hereditary motor sensory neuropathies are a heterogeneous group of inherited diseases of the peripheral nerves. In this review the clinical and genetic differences between the sub-groups of this disease will be discussed. Since the discovery of a 1.5 mb duplication on chromosome 17 p11.2-12 in most patients with a hereditary motor sensory neuropathy and a variety of different mutations on chromosomes 1 and X in other patients with a similar disease profile, Dycks' clinical classification needs to be re-evaluated. In this review Dycks' taxonomy of heridihary neuropathies will be compared to a new genetic classification and a relevant diagnostic procedure proposed when a hereditary neuropathy is suspected.

Citations Scopus - 2
Co-authors Jeannette Lechner-Scott
1994 Vermeulen W, Scott RJ, Rodgers S, Müller HJ, Cole J, Arlett CF, et al., 'Clinical heterogeneity within xeroderma pigmentosum associated with mutations in the DNA repair and transcription gene ERCC3', American Journal of Human Genetics, 54 191-200 (1994)

The human DNA excision repair gene ERCC3 specifically corrects the nucleotide excision repair (NER) defect of xeroderma pigmentosum (XP) complementation group B. In addition to it... [more]

The human DNA excision repair gene ERCC3 specifically corrects the nucleotide excision repair (NER) defect of xeroderma pigmentosum (XP) complementation group B. In addition to its function in NER, the ERCC3 DNA helicase was recently identified as one of the components of the human BTF2/TFIIH transcription factor complex, which is required for initiation of transcription of class II genes. To date, a single patient (XP11BE) has been assigned to this XP group B (XP-B), with the remarkable conjunction of two autosomal recessive DNA repair deficiency disorders: XP and Cockayne syndrome (CS). The intriguing involvement of the ERCC3 protein in the vital process of transcription may provide an explanation for the rarity, severity, and wide spectrum of clinical features in this complementation group. Here we report the identification of two new XP-B patients: XPCS1BA and XPCS2BA (siblings), by microneedle injection of the cloned ERCC3 repair gene as well as by cell hybridization. Molecular analysis of the ERCC3 gene in both patients revealed a single base substitution causing a missense mutation in a region that is completely conserved in yeast, Drosophila, mouse, and human ERCC3. As in patient XP11BE, the expression of only one allele (paternal) is detected. The mutation causes a virtually complete inactivation of the NER function of the protein. Despite this severe NER defect, both patients display a late onset of neurologic impairment, mild cutaneous symptoms, and a striking absence of skin tumors even at an age of >40 years. Analysis of the frequency of hprt- mutant T-lymphocytes in blood samples suggests a relatively low in vivo mutation frequency in these patients. Factors in addition to NER deficiency may be required for the development of cutaneous tumors.

Citations Scopus - 113
1994 Müller H, Scott R, Weber W, Meier R, 'Colorectal cancer: lessons for genetic counselling and care for families', Clinical Genetics, 46 106-114 (1994)

Cancers of the colon and the rectum are the second leading cause of malignacy in European countries with similar incidence rates for men and women and, therefore, one of the major... [more]

Cancers of the colon and the rectum are the second leading cause of malignacy in European countries with similar incidence rates for men and women and, therefore, one of the major health concerns. Emphasis is placed on the early detection of a developing neoplasm in order to improve the life expectancy of patients and their quality of life. Colorectal cancer (CRC) is an excellent model for studying the etiology and pathogenesis of a common malignancy and the complex multistage process of carcinogenesis. Abundant clinical and pathological evidence suggests that CRC arises from benign adenomas that proceed through a series of steps to metastatic carcinomas. Following the discovery of oncogenes and, more importantly tumor suppressor genes, Fearon & Vogelstein (1990) proposed a scheme of genetic events which are associated with colorectal tumorigenesis. Genetic linkage studies have recently identified another type of gene for colon cancer susceptibility that seems to act by destabilising the genome. Copyright © 1994, Wiley Blackwell. All rights reserved

DOI 10.1111/j.1399-0004.1994.tb04212.x
Citations Scopus - 6
1994 Rey JP, Scott R, Müller H, 'Apoptosis is not involved in the hypersensitivity of fanconi anemia cells to mitomycin C', Cancer Genetics and Cytogenetics, 75 67-71 (1994)

A striking feature of Fanconi anemia (FA) cells is their hypersensitivity towards crosslinking agents such as mitomycin C (MMC). In this study, we have shown that treatment of lym... [more]

A striking feature of Fanconi anemia (FA) cells is their hypersensitivity towards crosslinking agents such as mitomycin C (MMC). In this study, we have shown that treatment of lymphoblastoid cells with MMC resulted in nuclear fragmentation, chromatin condensation, and DNA degradation, which is characteristic of apoptosis. The level of DNA fragmentation 48 hours after MMC treatment reached approximately 33% in both control and FA cells. In addition, 24 hours after drug addition a decrease in the number of cells in the G2/M phase of the cell cycle was seen. This coincided with the appearance of apoptotic cells in the sub-G1 phase, indicating that once the cells had passed through G2/M, apoptosis occurred. The number of apoptotic cells increased to 60% 96 hours after MMC treatment. The number of apoptotic cells increased to 60% 96 hours after MMC treatment. The onset and level of apoptosis was found to be identical in FA and control cell lines, indicating that the FA defect does not lead to abnormal apoptotic cell death. © 1994.

DOI 10.1016/0165-4608(94)90218-6
Citations Scopus - 14
1994 Dobbie Z, Spycher M, Hürliman R, Ammann R, Ammann T, Roth J, et al., 'Mutational analysis of the first 14 exons of the adenomatous polyposis coli (APC) gene', European Journal of Cancer, 30 1709-1713 (1994)

In the present study, the polymerase chain reaction single strand conformation polymorphism (PCR-SSCP) technique has been applied to the mutation analysis of the adenomatous polyp... [more]

In the present study, the polymerase chain reaction single strand conformation polymorphism (PCR-SSCP) technique has been applied to the mutation analysis of the adenomatous polyposis coli (APC) gene. We examined the first 14 exons of the APC gene in 46 polyposis coli patients. Five germline mutations were observed, including a single-nucleotide substitution and small (1-4 bp) deletions leading, in 4 cases, to a stop codon. A missense mutation in exon 3 and a 1 bp deletion in exon 4 of the APC gene were observed in patients presenting with the attenuated form of FAP. © 1994.

DOI 10.1016/0959-8049(94)00294-F
Citations Scopus - 35
1994 Mary JL, Bishop T, Kolodner R, Lipford JR, Kane M, Weber W, et al., 'Mutational analysis of the hMSH2 gene reveals a three base pair deletion in a family predisposed to colorectal cancer development', Human Molecular Genetics, 3 2067-2069 (1994)
Citations Scopus - 36
1993 Rey JP, Scott R, Müller H, 'Induction and removal of interstrand crosslinks in the ribosomal RNA genes of lymphoblastoid cell lines from patients with Fanconi anemia', Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis, 289 171-180 (1993)

The repair of interstrand crosslinks has been investigated in Fanconi anemia (FA) and normal cells as there is evidence suggesting that FA patients have a defect in DNA repair. Ly... [more]

The repair of interstrand crosslinks has been investigated in Fanconi anemia (FA) and normal cells as there is evidence suggesting that FA patients have a defect in DNA repair. Lymphoblasts were treated with the crosslinking agent mitomycin C (MMC) and the removal of the induced DNA lesions investigated at the level of the actively transcribed ribosomal RNA (rRNA) genes. MMC-induced crosslinks appeared to be a rather stable lesion in the rRNA genes for all cell lines studied. Variable repair efficiencies were found between the different cells lines but they could not be used to distinguish normal cells from FA cells. Therefore, we propose that the specific sensitivity of FA cells towards MMC cannot be directly correlated with a deficient repair in interstrand crosslinks and that probably the complexity of the repair process is greater than previously described. © 1993.

DOI 10.1016/0027-5107(93)90067-P
Citations Scopus - 21
1993 Scott RJ, Krummenacher F, Mary JL, Weber W, Spycher M, Muller H, 'Inheritable p53 mutation in a patient with multiple cancer and its signification for genetic counselling', Schweizerische Medizinische Wochenschrift, 123 1287-1292 (1993)

We describe molecular genetic findings in a patient who initially presented with an intermediate teratoma of the testis and who many years later presented with an oligodendroastro... [more]

We describe molecular genetic findings in a patient who initially presented with an intermediate teratoma of the testis and who many years later presented with an oligodendroastrocytoma. In addition he developed a malignant histiocytoma over the scapula, an adenocarcinoma of the stomach and a late stage adenoma of the sigmoid colon. Due to the development of several neoplasms the possibility of either ataxia telangiectasia or Li-Fraumeni syndrome was considered in differential diagnosis. A molecular genetic investigation revealed that both he and his brother carried a germline p53 tumor suppressor gene mutation at codon 248. From this result we conclude that this family belongs to the Li-Fraumeni syndrome. Once characterized as belonging to the Li-Fraumeni syndrome, the remaining members of the family were typed to determine if they too carried the same mutation. The two children of the index patient were shown not to carry the mutation and are therefore at no increased risk of developing any of the Li-Fraumeni spectrum of malignancies. A molecular genetic investigation into similar families could help to prevent the development of additional malignancies as seen in the index patient, as radiotherapy may interfere with the normal function of the p53 protein and this may in turn belp to orchestrate DNA repair after radiation.

Citations Scopus - 15
1993 Elliott RL, Nelson E, Fitch WL, Scott R, Wolber G, Singh R, 'Informed decision making in persons acquitted not guilty by reason of insanity', Bulletin of the American Academy of Psychiatry and the Law, 21 309-320 (1993)
Citations Scopus - 4
1993 Scott RJ, Itin P, Kleijer WJ, Kolb K, Arlett C, Muller H, 'Xeroderma pigmentosum-Cockayne syndrome complex in two patients: Absence of skin tumors despite severe deficiency of DNA excision repair', Journal of the American Academy of Dermatology, 29 883-889 (1993)

Two brothers had a complex combination of two DNA repair disorders: Cockayne syndrome and xeroderma pigmentosum. This rare combination has previously been observed in only two oth... [more]

Two brothers had a complex combination of two DNA repair disorders: Cockayne syndrome and xeroderma pigmentosum. This rare combination has previously been observed in only two other patients. The clinical signs shared by these two brothers and the two other previously described patients include severe sun sensitivity, freckling, diminished stature, hearing and movement impairment, and neurologic degeneration. Although defective UV- induced unscheduled DNA synthesis has been demonstrated (5% of normal), no skin cancers have appeared in these 38- and 41-year-old brothers, whereas skin cancers developed at a relatively early age in the two previously described patients who also had defective UV-induced unscheduled DNA synthesis.

Citations Scopus - 36
1993 Scott RJ, Müller H, 'Familial and genetic aspects of colorectal carcinogenesis', European Journal of Cancer, 29 2163-2167 (1993)

There is abundant clinical and pathological evidence which suggests that colorectal cancer arises in a sequential manner through a series of events that can be followed during the... [more]

There is abundant clinical and pathological evidence which suggests that colorectal cancer arises in a sequential manner through a series of events that can be followed during the progression of the disease from early adenoma through to metastatic disease. The molecular events that are associated with the initiation and progression of the disease are gradually being unravelled. As the molecular characterisation of colorectal cancer continues, new mechanisms by which the disease progresses are becoming evident. In this short review, a brief description of current knowledge of colorectal cancer development is presented. © 1993.

DOI 10.1016/0959-8049(93)90056-L
Citations Scopus - 7
1992 Müller H, Scott R, 'Hereditary conditions in which the loss of heterozygosity may be important', Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis, 284 15-24 (1992)

Somatic mutations are common event in multicellular organisms and, therefore, have a significant impact on health. They can lead to either heterozygosity or homozygosity. Since th... [more]

Somatic mutations are common event in multicellular organisms and, therefore, have a significant impact on health. They can lead to either heterozygosity or homozygosity. Since the multistep concept of carcinogenesis presupposes that mutations/deletions of several genes are acquired, the identification and location of the critical genes involved in this sequence is attempted either by the observation of cytogenetic or molecular abnormalities in tumorous tissue or by linkage analysis, or both. The retinoblastoma paradigm of loss of heterozygosity with respect to the loss of the only wild-type allele can be applied to familial neoplasias occurring in all organs as they are summarized in this review. The development of homozygosity in non-malignant tissue has not been extensively investigated. However, its study has contributed to the identification of new genetic phenomena such as parental unidisomy and genomic imprinting. © 1992.

DOI 10.1016/0027-5107(92)90021-S
Citations Scopus - 24
1992 Scott R, 'Dermatologists warn nation of increased skin cancer risk', Journal of the National Cancer Institute, 84 1696 (1992)
Citations Scopus - 3
1992 Scott R, 'IL-2 approval recommended by FDA panel', Journal of the National Cancer Institute, 84 226-227 (1992)
Citations Scopus - 1
1992 Ou CY, Ciesielski CA, Myers G, Bandea CI, Luo CC, Korber BTM, et al., 'Molecular epidemiology of HIV transmission in a dental practice', Science, 256 1165-1171 (1992)

Human immunodeficiency virus type 1 (HIV-1) transmission from infected patients to health-care workers has been well documented, but transmission from an infected health-care work... [more]

Human immunodeficiency virus type 1 (HIV-1) transmission from infected patients to health-care workers has been well documented, but transmission from an infected health-care worker to a patient has not been reported. After identification of an acquired immunodeficiency syndrome (AIDS) patient who had no known risk factors for HIV infection but who had undergone an invasive procedure performed by a dentist with AIDS, six other patients of this dentist were found to be HIV-infected. Molecular biologic studies were conducted to complement the epidemiologic investigation. Portions of the HIV proviral envelope gene from each of the seven patients, the dentist, and 35 HIV-infected persons from the local geographic area were amplified by polymerase chain reaction and sequenced. Three separate comparative genetic analyses - genetic distance measurements, phytogenetic tree analysis, and amino acid signature pattern analysis - showed that the viruses from the dentist and five dental patients were closely related. These data, together with the epidemiologic investigation, indicated that these patients became infected with HIV while receiving care from a dentist with AIDS.

Citations Scopus - 325
1991 Scott RJ, Hall PA, Haldane JS, Van Noorden S, Price Y, Lane DP, Wright NA, 'A comparison of immunohistochemical markers of cell proliferation with experimentally determined growth fraction', Journal of Pathology, 165 173-178 (1991)

The relationship between immunoreactivity for cell proliferation markers (Ki67 and PCNA) and the growth fraction as determined by the fraction of labelled mitoses method was asses... [more]

The relationship between immunoreactivity for cell proliferation markers (Ki67 and PCNA) and the growth fraction as determined by the fraction of labelled mitoses method was assessed in xenograft tumours grown from the LoVo cell line in nude mice. FLM curves were constructed by injecting tritiated thymidine and then preparing autoradiographs from the tumours. From this data an estimate of growth fraction and cell cycle time were made. Using frozen material from the same tumours, the Ki67 index was determined by immunostaining. PCNA staining was determined in the fixed material which had been used for the autoradiographs. The results show that Ki67 staining follows the same trend as the FLM-determined growth fraction as the tumour increases in size and the rate of growth decreases. However the Ki67 index does produce a consistent overestimate of the growth fraction in this in-vivo system, as compared to observations in cell culture. PCNA staining showed virtually 100 per cent positive staining in all the tumours, which is likely to reflect the long half-life of the antigen, compared to the very fast cell-cycle time of the xenograft tumours. These results show that staining with proliferation markers is not a precise determinant of growth fraction. Ki67 staining is a method that can be usefully applied as an operational marker of cell proliferation, but should not be used uncritically. Further caution is necessary in the use of PCNA. The findings also demonstrate the need to use a range of methods when assessing a new proliferation marker.

Citations Scopus - 206
1991 Scott R, 'Commission urges stronger leadership against AIDS.', Journal of the National Cancer Institute, 83 1449 (1991)
1989 COCKBURN J, HENNRIKUS D, SCOTT R, SANSONFISHER R, 'ADOLESCENT USE OF SUN-PROTECTION MEASURES', MEDICAL JOURNAL OF AUSTRALIA, 151 136-140 (1989)
Citations Scopus - 105Web of Science - 103
Co-authors Rob Sanson-Fisher
Okbay A, Beauchamp JP, Fontana MA, Lee JJ, Pers TH, Rietveld CA, et al., 'Genome-wide association study identifies 74 loci associated with educational attainment.', Nature, 533 539-542 [C1]
DOI 10.1038/nature17671
Citations Scopus - 53Web of Science - 49
Co-authors John Attia, Christopher Oldmeadow, Liz Holliday
Gorski M, van der Most PJ, Teumer A, Chu AY, Li M, Mijatovic V, et al., '1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function.', Sci Rep, 7 45040
DOI 10.1038/srep45040
Citations Web of Science - 1
Co-authors Liz Holliday, John Attia, Mark Mcevoy
Show 512 more journal articles

Conference (217 outputs)

Year Citation Altmetrics Link
2016 Weickert CS, Fullerton JM, Hu S, Kyaw M, Schofield PR, Carr VJ, et al., 'SCHIZOPHRENIA AND COGNITIVE DYSFUNCTION ASSOCIATED WITH THE ESTROGEN RECEPTOR 1 GENOTYPE', AUSTRALIAN AND NEW ZEALAND JOURNAL OF PSYCHIATRY (2016)
Co-authors Ulrich Schall, Pat Michie, Frans Henskens
2016 Maltby VE, Graves M, Lea R, Benton MC, Sanders KA, Tajouri L, et al., 'Genome-wide DNA methylation profiling of CD8+T cells reveals distinct epigenetic signatures', MULTIPLE SCLEROSIS JOURNAL (2016)
Co-authors Vicki E Maltby, Jeannette Lechner-Scott
2016 Sanders KA, Benton MC, Maltby VE, Lea R, Agland S, Griffin N, et al., 'A negative regulator of T-cell activation, SOCS6, is up-regulated in response to decreased microRNA expression in SPMS CD4+T-cells', MULTIPLE SCLEROSIS JOURNAL (2016)
Co-authors Vicki E Maltby, Jeannette Lechner-Scott
2016 Zhang X, Morten B, Campbell H, Braithwaite A, Scott R, Avery-Kiejda K, 'Delta 40p53 REGULATES MIGRATION IN THE MCF-7 BREAST CANCER CELL LINE', ASIA-PACIFIC JOURNAL OF CLINICAL ONCOLOGY (2016)
2016 Berry N, Scott R, Enjeti A, 'HD-SNP MICROARRAY ANALYSIS OF THE STUDY NINE HIGH-RISK ALL PATIENTS - PROVIDING KEY PROGNOSTIC INFORMATION USING ARRAYS', ASIA-PACIFIC JOURNAL OF CLINICAL ONCOLOGY (2016)
2016 Mathe A, Wong-Brown M, Locke W, Stirzaker C, Braye S, Forbes J, et al., 'DNA METHYLATION PROFILE OF TRIPLE NEGATIVE BREAST CANCER-SPECIFIC GENES COMPARING LYMPH NODE POSITIVE PATIENTS TO LYMPH NODE NEGATIVE PATIENTS', ASIA-PACIFIC JOURNAL OF CLINICAL ONCOLOGY (2016)
Co-authors Michelle Wong-Brown
2016 Sjursen W, McPhillips M, Talseth-Palmer B, Scott R, 'LYNCH SYNDROME MUTATION SPECTRUM IN NEW SOUTH WALES, AUSTRALIA, INCLUDING 55 NOVEL MUTATIONS', ASIA-PACIFIC JOURNAL OF CLINICAL ONCOLOGY (2016)
Co-authors Bente Talseth-Palmer
2016 Wong-Brown M, Riveros C, Scott R, 'TARGETED RESEQUENCING OF BRCA1 AND BRCA2 IN FAMILIAL BREAST CANCER', ASIA-PACIFIC JOURNAL OF CLINICAL ONCOLOGY (2016)
Co-authors Carlos Riveros, Michelle Wong-Brown
2016 Campbell IG, Thompson ER, Rowely SM, Li N, McInerny S, Devereux L, et al., 'Panel testing for familial breast cancer: Tension at the boundary of research and clinical care', CANCER RESEARCH (2016)
DOI 10.1158/1538-7445.SABCS15-P2-09-02
Co-authors Michelle Wong-Brown
2015 Sanders K, Benton MC, Lea RA, Maltby VE, Agland S, Scott RJ, et al., 'MicroRNA sequencing identifies four down-regulated microRNAs in CD4+T-cells of secondary progressive multiple sclerosis patients', MULTIPLE SCLEROSIS JOURNAL (2015) [E3]
Citations Web of Science - 1
Co-authors Vicki E Maltby, Jeannette Lechner-Scott
2015 Maltby V, Graves M, Lea R, Benton M, Sanders K, Lechner-Scott J, et al., 'Minor methylation differences at various loci in CD8+T-Cells are associated with multiple sclerosis', MULTIPLE SCLEROSIS JOURNAL (2015) [E3]
Co-authors Vicki E Maltby, Jeannette Lechner-Scott
2015 Wiley J, Field J, Dutertre S, Kilpatrick TJ, Lechner-Scott J, Scott R, et al., 'A rare P2X7 variant Arg307Gln with absent pore formation function protects against neuroinflammation in multiple sclerosis', MULTIPLE SCLEROSIS JOURNAL (2015) [O1]
Co-authors Jeannette Lechner-Scott
2015 Lea R, Benton M, Scott R, Lechner-Scott J, 'Next Phase ANZGene Proposal - Epigenome-Wide Association Studies of Multiple Sclerosis', MULTIPLE SCLEROSIS JOURNAL (2015) [E3]
Co-authors Jeannette Lechner-Scott
2015 Thompson E, Wong-Brown M, Rowley S, Dooley S, Li N, Hipwell M, et al., 'PANEL TESTING FOR BREAST CANCER RISK ASSESSMENT: IS IT JUST BECAUSE WE CAN RATHER THAN SHOULD?', ASIA-PACIFIC JOURNAL OF CLINICAL ONCOLOGY (2015) [E3]
Co-authors Michelle Wong-Brown
2015 Laegdsgaard P, Nielsen S, Koegelenberg A, Goode S, Thorne R, Lund D, et al., 'A NEW VENTURE FOR THE HUNTER CANCER BIOBANK-ESTABLISHMENT OF SEQUENTIAL BLOOD COLLECTION FOR BRAIN CANCER RESEARCH', ASIA-PACIFIC JOURNAL OF CLINICAL ONCOLOGY (2015) [E3]
Co-authors Craig Gedye, Rick Thorne
2015 Morten B, Wong-Brown M, Scott R, Avery-Kiejda K, 'ASSOCIATION OF THE POLYMORPHIC INTRON 3 16 BP DUPLICATION IN TP53 (RS17878362) WITH A LOW Delta 40P53:P53 RATIO AND BETTER OUTCOME IN BREAST CANCER', ASIA-PACIFIC JOURNAL OF CLINICAL ONCOLOGY (2015) [E3]
Co-authors Kelly Kiejda, Michelle Wong-Brown
2015 Daneshi N, Graham M, Holliday E, Schneider J, Kerr KP, Rasiah R, et al., 'Clinically actionable pharmacogenomic variants in community-dwelling older Australians.', ASMR XXIII NSW Scientific Meeting: Programme and Abstracts (2015) [E3]
Co-authors Liz Holliday, Rohan Rasiah, Karen Kerr, Liz Milward, Jennifer Schneider, John Attia
2015 Davey RJ, Budden T, Vilain RE, Ashton KA, Braye SG, Scott RJ, Bowden NA, 'Reduced repair of UVB-induced DNA damage due to attenuated XPC in melanoma.' (2015)
Co-authors Nikola Bowden
2015 Bolton KA, Holliday EG, McEvoy M, Attia J, Proietto A, Otton G, et al., 'A novel short tandem repeat in the upstream regulatory region of the estrogen-induced gene EIG121 is potentially involved in cancer risk' (2015)
Co-authors John Attia, Liz Holliday, Nikola Bowden
2015 Ibrahim EC, Bergon A, Belzeaux R, Comte M, Pelletier F, Herve M, et al., 'Transcriptome Analyses of Human Brain and Blood Tissues Converge to Dysregulated Expression of CX3CR1', BIOLOGICAL PSYCHIATRY (2015) [E3]
Co-authors Paul Tooney, Murray Cairns, Brian Kelly
2015 Lumbers ER, Grimson S, Cox AJ, Pringle KJ, Burns C, Blackwell CC, Scott RJ, 'THE DISTRIBUTION OF SOME SINGLE NUCLEOTIDE POLYMORPHISMS OF THE RENIN-ANGIOTENSIN SYSTEM IN INDIGENOUS AUSTRALIANS', HYPERTENSION (2015) [E3]
Co-authors Caroline Blackwell, Kirsty Pringle
2015 Scott R, Dooley S, Lewis W, Meldrum C, Pockney P, Draganic B, et al., 'Concordance of RAS mutation status in CRC patients by comparison of results from circulating tumour DNA and tissue-based testing', ANNALS OF ONCOLOGY (2015) [E3]
DOI 10.1093/annonc/mdv233.270
Co-authors Peter Pockney
2015 Sanders KA, Benton MC, Lea RA, Maltby VE, Agland S, Scott RJ, et al., 'MicroRNA sequencing identifies down-regulated microRNA in CD4+T-cells of secondary progressive multiple sclerosis patients', MULTIPLE SCLEROSIS JOURNAL (2015) [E3]
Co-authors Vicki E Maltby, Jeannette Lechner-Scott
2015 Nielsen S, Sulaiman B, Goode S, Young B, Koegelenberg A, Thorne R, et al., 'THE ESSENTIAL ROLE OF ANATOMICAL PATHOLOGISTS IN TISSUE BIOBANKING - A WIN- WIN SITUATION', ASIA-PACIFIC JOURNAL OF CLINICAL ONCOLOGY (2015) [E3]
Co-authors Rick Thorne, John Forbes, Marjorie Walker
2015 Faulkner S, Lincz L, McElduff P, Scott R, Thorne R, Walker M, et al., 'COMPARING DIGITAL VERSUS VISUAL SCORING METHODS FOR IMMUNOHISTOCHEMICAL STAINING: A CASE STUDY IN THE HUNTER CANCER BIOBANK', ASIA-PACIFIC JOURNAL OF CLINICAL ONCOLOGY (2015) [E3]
Co-authors Hubert Hondermarck, Rick Thorne, Lisa Lincz, Marjorie Walker, Patrick Mcelduff
2015 Gu B, Field J, Kilpatrick T, Lechner-Scott J, Scott R, Lea R, et al., 'A rare P2X7 variant ARG307GLN with absent pore formation function protects against neuroinflammation in multiple sclerosis', JOURNAL OF NEUROCHEMISTRY (2015) [E3]
Citations Web of Science - 1
Co-authors Jeannette Lechner-Scott
2014 Morten B, Campbell HG, Brown MW, Mathe A, Braithwaite AW, Scott RJ, Kiejda KA, '¿40p53 regulation of estrogen responsiveness in breast cancer.', 16th International p53 Workshop Proceedings (2014) [E3]
Co-authors Kelly Kiejda, Michelle Wong-Brown
2014 Morten B, Scott RJ, Kiejda KA, 'The role of ¿40p53 and p53 in Estrogen-Receptor-a signaling pathways in breast cancer.', 23rd Biennial Congress of the European Association for Cancer Research Proceedings Book (2014) [E3]
Co-authors Kelly Kiejda
2014 Morten B, Campbell HG, Wong-Brown MW, Mathe A, Braithwaite AW, Scott RJ, Avery-Kiejda KA, 'Delta-40P53 regulation of ERa-mediated signalling in breast cancer.', The 29th International Association for Breast Cancer Research Conference Proceedings (2014) [E3]
Co-authors Kelly Kiejda
2014 Mathe A, Avery-Kiejda KA, Wong-Brown M, Forbes JF, Braye SG, Scott RJ, 'Can microRNAs impact cell migration in triple negative breast cancer?', The Australian Society for Medical Research (ASMR) Satellite Scientific Meeting Programme (2014) [E3]
Co-authors John Forbes, Kelly Kiejda
2014 Morten B, Scott RJ, Avery-Kiejda KA, '¿40p53 and p53 mediate ER-a expression in breast cancer cells.', The Australian Society for Medical Research (ASMR) Satellite Scientific Meeting Programme (2014) [E3]
Co-authors Kelly Kiejda
2014 Avery-Kiejda KA, Morten B, Wong-Brown MW, Mathe A, Scott RJ, 'The relationship between p53 isoforms and prognosis in breast cancer.', The Australian Society for Medical Research (ASMR) Satellite Scientific Meeting Programme (2014) [E3]
Co-authors Kelly Kiejda, Michelle Wong-Brown
2014 Budden T, Davey RJ, Vilain RE, Ashton KA, Braye SG, Scott RJ, Bowden NA, 'Repair of UVB-induced DNA damage is reduced in melanoma due to attenuated XPC and global genome repair.', Proceedings of the Inaugural EMBL Australia PhD Symposium (2014) [E3]
Citations Scopus - 1
Co-authors Nikola Bowden
2014 Lumbers ER, Grimson S, Cox A, Pringle KG, Burns C, Blackwell CC, Scott R, 'The distribution of some nucleotide polymorphisms of the renin-angiotensin system in Indigenous Australians.', State of Heart 2014 Congress (2014) [E3]
Co-authors Caroline Blackwell, Kirsty Pringle
2014 Bolton KA, Ross JP, Grice DM, Bowden NA, Holliday EG, Kiejda KA, Scott RJ, 'Short tandem repeats are variable genetic elements that may have major consequences for multiple diseases.', The Australian Society for Medical Research (ASMR) Satellite Scientific Meeting Programme (2014) [E3]
Co-authors Kelly Kiejda, Liz Holliday, Nikola Bowden
2014 Davey RJ, Budden T, Vilain RE, Ashton KA, Braye SG, Scott RJ, Bowden NA, 'REPAIR OF UVB-INDUCED DNA DAMAGE IS REDUCED IN MELANOMA DUE TO ATTENUATED XPC AND GLOBAL GENOME REPAIR', ASIA-PACIFIC JOURNAL OF CLINICAL ONCOLOGY (2014)
Co-authors Nikola Bowden
2014 Sanders KA, Lea RA, Agland SE, Scott RJ, Lechner-Scott J, Tajouri L, 'Next generation sequencing of microRNA in the CD4+T-cells of secondary progressive multiple sclerosis individuals', MULTIPLE SCLEROSIS JOURNAL (2014) [E3]
Co-authors Jeannette Lechner-Scott
2014 Graves MC, Benton M, Lea R, Macartney D, Tajouri L, Scott RJ, Lechner-Scott J, 'Epigenetic changes in CD8(+) T cells and CD19(+) B cells isolated from relapsing/remitting multiple sclerosis patients', MULTIPLE SCLEROSIS JOURNAL (2014) [E3]
Co-authors Jeannette Lechner-Scott
2014 Baines KJ, Simpson JL, Wood LG, Scott RJ, Fibbens NL, Powell H, et al., 'An Expression Signature Of 6 Genes Can Reliably Distinguish Eosinophilic And Neutrophilic Inflammation And Corticosteroid Response In Asthma', AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE (2014)
Co-authors Lisa Wood, Jodie Simpson, Katherine Baines, Peter Gibson
2014 Baines K, Simpson J, Wood L, Scott R, Fibbens N, Powell H, et al., 'SPUTUM GENE EXPRESSION OF SIX MARKERS IDENTIFIES ASTHMA INFLAMMATORY PHENOTYPE AND CORTICOSTEROID RESPONSE', RESPIROLOGY (2014) [E3]
Co-authors Jodie Simpson, Lisa Wood, Peter Gibson, Katherine Baines
2014 Mather KA, Thalamuthu A, Oldmeadow C, Song F, Armstrong NJ, Poljak A, et al., 'Genome-wide significant results identified for plasma apolipoprotein h levels', Alzheimer's & Dementia (2014) [E3]
DOI 10.1016/j.jalz.2014.05.1526
Co-authors Mark Mcevoy, John Attia, Christopher Oldmeadow, Liz Holliday, Peter Schofield
2014 Chouraki VA, Jakobsdottir J, Mather K, Adams H, Mollon J, Oldmeadow C, et al., 'A genome-wide meta-analysis of plasma clusterin levels in the charge consortium', Alzheimer's & Dementia (2014) [E3]
DOI 10.1016/j.jalz.2014.05.1159
Co-authors John Attia, Christopher Oldmeadow, Liz Holliday
2014 Gedye C, Sirskyj D, Hyatt E, Lobo N, Lourenco C, Evans A, et al., 'MESENCHYMAL DIFFERENTIATION PROGRAMS GOVERN VHL-MUTANT CLEAR CELL RENAL CANCER BIOLOGY', ASIA-PACIFIC JOURNAL OF CLINICAL ONCOLOGY (2014) [E3]
Co-authors Craig Gedye
2014 Koegelenberg AM, Dean S, Meagher NS, Caruso L, Goode S, Pillai U, et al., 'CLOSING THE GAP BETWEEN RESEARCH, BIOBANKS AND CLINICAL PRACTICE: A 12 MONTH EXPLORATORY STUDY INTO DEVELOPING A STANDARD PRE-OPERATIVE MODEL FOR OBTAINING BIOBANK CONSENT', ASIA-PACIFIC JOURNAL OF CLINICAL ONCOLOGY (2014) [E3]
2014 Meagher NS, Dean S, Koegelenberg A, Goode S, Caruso L, Pillai U, et al., 'INTEGRATING UNIVERSAL CONSENT FOR BIOBANKING AND HEALTH DATA COLLECTION WITHIN CLINICAL PATHWAYS IN NSW - THE BSN CONSENT PROJECT', ASIA-PACIFIC JOURNAL OF CLINICAL ONCOLOGY (2014) [E3]
2014 Mathe A, Avery-Kiejda KA, Wong-Brown M, Morten B, Forbes JF, Braye SG, Scott RJ, 'IDENTIFICATION OF NOVEL TRANSCRIPTS SPECIFIC TO TRIPLE NEGATIVE BREAST CANCER THAT ARE ASSOCIATED WITH LYMPH NODE METASTASIS', ASIA-PACIFIC JOURNAL OF CLINICAL ONCOLOGY (2014) [E3]
DOI 10.1111/ajco.12335
Co-authors John Forbes, Michelle Wong-Brown, Kelly Kiejda
2014 Morten B, Scott RJ, Avery-Kiejda KA, 'Delta 40P53 CAN ALTER BREAST CANCER CELL GROWTH BY MEDIATING THE ESTROGEN RESPONSE', ASIA-PACIFIC JOURNAL OF CLINICAL ONCOLOGY (2014) [E3]
Co-authors Kelly Kiejda
2014 Delforce SJ, Pringle KG, Wang Y, Verrills NM, Scott RJ, Lumbers ER, 'THE FUNCTIONAL ROLE OF THE ENDOMETRIAL RENIN ANGIOTENSIN SYSTEM IN ENDOMETRIAL CANCER', ASIA-PACIFIC JOURNAL OF CLINICAL ONCOLOGY (2014) [E3]
Co-authors Kirsty Pringle, Nikki Verrills
2014 Ackland SP, Scott RJ, Moscato P, Ovchinkova L, 'A PLATFORM FOR PHARMACOGENOMIC ANALYSIS OF ADVERSE DRUG REACTIONS IN CANCER', ASIA-PACIFIC JOURNAL OF CLINICAL ONCOLOGY (2014) [E3]
Co-authors Stephen Ackland, Pablo Moscato
2014 Davey RJ, Budden T, Vilain RE, Ashton KA, Braye SG, Scott RJ, Bowden NA, 'REPAIR OF UVB-INDUCED DNA DAMAGE IS REDUCED IN MELANOMA DUE TO ATTENUATED XPC AND GLOBAL GENOME REPAIR', ASIA-PACIFIC JOURNAL OF CLINICAL ONCOLOGY (2014) [E3]
Co-authors Nikola Bowden
2014 Guo ST, Chi MN, Yang RH, Guo XY, Wang CY, Zan LQ, et al., 'INOSITOL POLYPHOSPHATE 4-PHOSPHATASE II PROMOTES PI3K SIGNALING AND FUNCTIONS AS AN ONCOGENIC REGULATOR IN HUMAN COLON CANCER', ASIA-PACIFIC JOURNAL OF CLINICAL ONCOLOGY (2014) [E3]
Co-authors Rick Thorne, Xu Zhang, Chenchen Jiang, Lei Jin, Stephen Ackland
2014 Maguire J, Lindgren A, Bevan S, Fernandez-Cadenas I, Hankey G, Jern C, et al., 'GISCOME - Genetic Influences on Ischaemic Stroke Functional Outcome: A genome wide association study', INTERNATIONAL JOURNAL OF STROKE (2014) [E3]
Co-authors Christopher Levi
2014 Pan X, Smith R, Scott RJ, Fitter J, Zakar T, 'Corticotropin Releasing Hormone (CRH) Expression Is Controlled by DNA Methylation in the Trophoblast', REPRODUCTIVE SCIENCES (2014) [E3]
Citations Web of Science - 1
Co-authors Roger Smith, John Fitter
2014 Mathe A, Avery-Kiejda KA, Wong-Brown M, Forbes JF, Braye SG, Scott RJ, 'Eight microRNAs as biomarkers for metastatic spread in triple negative breast cancer', EUROPEAN JOURNAL OF CANCER (2014) [E3]
Co-authors Kelly Kiejda, John Forbes, Michelle Wong-Brown
2014 Morten B, Scott RJ, Avery-Kiejda KA, 'The role of Delta-40p53 and p53 in Estrogen Receptor-alpha signalling pathways in breast cancer', EUROPEAN JOURNAL OF CANCER (2014) [E3]
Co-authors Kelly Kiejda
2014 Talseth-Palmer BA, Evans TJ, Spigelman A, Scott RJ, 'Targeted next-generation sequencing - Identification of Lynch syndrome cases', EUROPEAN JOURNAL OF CANCER (2014) [E3]
Co-authors Bente Talseth-Palmer
2014 Bolton KA, Holliday EG, Bowden NA, Avery-Kiejda KA, Scott RJ, 'A highly polymorphic AG repeat in the upstream regulatory region of the estrogen-induced gene EIG121 is a modifier of disease risk in endometrial cancer', EUROPEAN JOURNAL OF CANCER (2014) [E3]
Co-authors Liz Holliday, Nikola Bowden, Kelly Kiejda
2014 Davey RJ, Vilain RE, Ashton KA, Braye SG, Scott RJ, Bowden NA, 'XPC expression is associated with BRAFV600E and NRASQ61R mutations and poor survival in melanoma.', ASMR Satellite scientific meeting proceedings (2014) [E3]
Co-authors Nikola Bowden
2014 Wong-Brown M, Scott RJ, 'Low prevalence of germline PALB2 mutations in Australian triple-negative breast cancer', Abstract booklet (2014) [E3]
Co-authors Michelle Wong-Brown
2014 Bolton KA, Holliday EG, McEvoy M, Attia J, Proietto A, Otton G, et al., 'A highly polymorphic AG repeat in the upstream regulatory region of the estrogen gene EIG121 is a potential modifier of endometrial cancer risk.', Asia-Pacific Journal of Clinical Oncology (2014) [E3]
DOI 10.1111/ajco.12335
Co-authors Kelly Kiejda, Nikola Bowden, John Attia, Mark Mcevoy, Liz Holliday
2013 Zotenko E, Stirzaker C, Song JZ, Qu W, Nair S, Avery-Kiejda KA, et al., 'Genome-wide DNA methylation analysis of archival formalin-fixed paraffin-embedded tissue (FFPET) using MDBCAP-Seq identifies novel epigenetic diagnostic biomarker loci in breast cancer.', 25th Lorne Cancer Conference Proceedings (2013) [E3]
Co-authors Kelly Kiejda
2013 Morten B, Mathe A, Scott RJ, Avery-Kiejda KA, 'mRNA expression analysis of p53 isoforms in breast cancer.', 25th Lorne Cancer Conference Proceedings (2013) [E3]
Co-authors Kelly Kiejda
2013 Avery-Kiejda KA, Mathe A, Braye SG, Forbes JF, Scott RJ, 'The expression of Dicer and Drosha in lymph node metastases of triple negative breast cancer.', 25th Lorne Cancer Conference Proceedings (2013) [E3]
Co-authors Kelly Kiejda, John Forbes
2013 Mathe A, Avery-Kiejda KA, Wong-Brown MW, Forbes JF, Braye SG, Scott RJ, 'Target gene identification of microRNAs associated with lymph node metastases in triple negative breast cancer.', 25th Lorne Cancer Conference Proceedings (2013) [E3]
Co-authors John Forbes, Kelly Kiejda, Michelle Wong-Brown
2013 Bolton KA, Ross J, Grice DM, Avery-Kiejda KA, Bowden NA, Holliday EG, Scott RJ, 'Role of Short Tandem Repeats in Disease and Evolutionary Mechanisms.', 34th Lorne Genome Conference Proceedings (2013) [E3]
Co-authors Nikola Bowden, Liz Holliday, Kelly Kiejda
2013 Mathe A, Avery-Kiejda KA, Wong-Brown M, Forbes JF, Braye SG, Scott RJ, 'Integration of microRNA and gene expression profiling in triple negative breast cancer to identify possible biomarkers for metastases.', Breakthrough Breast Cancer TNBC Conference Proceedings (2013) [E3]
Co-authors Michelle Wong-Brown, John Forbes, Kelly Kiejda
2013 Talseth-Palmer B, Meldrum C, Ashton KA, Spigelman A, Scott RJ, 'Revealing cancer complexity - Identification of Lynch syndrome cases', Familial Cancer (2013) [E3]
Co-authors Bente Talseth-Palmer
2013 Talseth-Palmer B, Wijnen JT, Andreassen EK, Jagmohan-Changur S, Barker D, Tops CM, et al., 'The importance of a large sample cohort for studies on modifier genes influencing disease development in FAP patients', Familial Cancer (2013) [E3]
Co-authors Bente Talseth-Palmer
2013 Wong-Brown M, Li S, Wilkins M, Avery-Kiejda KA, Bowden N, Scott R, 'Targeted resequencing of BRCA1 and BRCA2 in familial breast cancer.', Kathleen Cunningham Foundation Consortium for Research into Familial Aspects of Cancer 2013 Research and Practice Proceedings (2013) [E3]
Co-authors Nikola Bowden, Kelly Kiejda, Michelle Wong-Brown
2013 Wong-Brown M, Avery-Kiejda K, Bowden N, Scott R, 'Prevalence of BRCA1 and BRCA2 germline mutations in triple-negative breast cancer', Programme (2013) [E3]
Citations Web of Science - 26
Co-authors Nikola Bowden, Michelle Wong-Brown, Kelly Kiejda
2013 Lumbers ER, Wang Y, Pringle KG, Scott RJ, 'Expression of the renin-angiotensin system in an endometrial cancer cell line', Published proceedings of the Symposium on Vasoactive Peptides (2013) [E3]
Co-authors Kirsty Pringle
2013 Morten B, Scott RJ, Avery-Kiejda KA, 'Microarray analysis of differentially expressed genes in patients with high ¿40p53 expression.', Translational Cancer Research Conference Abstract booklet (2013) [E3]
Co-authors Kelly Kiejda
2013 Bolton KA, Avery-Kiejda KA, Grice DM, Holliday EG, Bowden NA, Ross J, Scott RJ, 'STaRRRT: Our new resource for identifying candidates of genetic risk in breast and endometrial cancer.', Translational Cancer Research Conference Abstract booklet (2013) [E3]
Co-authors Kelly Kiejda, Liz Holliday, Nikola Bowden
2013 Mathe A, Wong-Brown M, Forbes JF, Braye SG, Scott RJ, Avery-Kiejda KA, 'Identification of biomarkers for metastatic spread in triple negative breast cancer.', Translational Cancer Research Conference Abstract booklet (2013) [E3]
Co-authors Kelly Kiejda, John Forbes, Michelle Wong-Brown
2013 Grice DM, Bauer DC, Duesing K, Li D, Greenfield P, Nielsen S, et al., 'Human and microbial transcriptomics from lean and obese individuals with colorectal cancer: A comparison of Total and Poly A RNA sequencing from clinical samples.', CANCER RESEARCH (2013) [E3]
DOI 10.1158/1538-7445.AM2013-LB-237
Co-authors Peter Pockney
2013 Graves M, Benton M, Lea R, Boyle M, Tajouri L, Macartney-Coxson D, et al., 'Epigenetic changes in CD4+T cells isolated from relapsing-remitting multiple sclerosis patients', MULTIPLE SCLEROSIS JOURNAL (2013) [E3]
Co-authors Jeannette Lechner-Scott
2013 Nyholt DR, Low S-K, Anderson CA, Painter JN, Uno S, Morris AP, et al., 'Meta-Analysis of GWA Studies Identifies New Endometriosis Risk Loci', REPRODUCTIVE SCIENCES (2013) [E3]
Co-authors John Attia, Liz Holliday, Mark Mcevoy
2012 Bolton KA, Ross J, Grice DM, Kiejda KA, Bowden NA, Holliday EG, Scott R, 'Potential role of short tandem repeats in disease processes', Abstracts. 6th Australian Health & Medical Research Congress (2012) [E3]
Co-authors Kelly Kiejda, Liz Holliday, Nikola Bowden
2012 Gardiner EJ, Cairns MJ, Beveridge NJ, Liu B, Mossman D, Carr VJ, et al., 'Differential gene expression in peripheral blood mononuclear cells from a large cohort of participants with schizophrenia', Abstracts. Australian Neuroscience Society 32nd Annual Meeting (2012) [E3]
Co-authors Murray Cairns, Paul Tooney
2012 Pan X, Nicholson RC, Scott R, Fitter JT, Smith R, Zakar T, 'DNA methylation associated with induction of CRH gene expression in trophoblast cells', Abstracts. The Annual Scientific Meeting of the Endocrine Society of Australia and the Society for Reproductive Biology 2012 (2012) [E3]
Co-authors John Fitter, Roger Smith
2012 Talseth-Palmer B, Scott R, 'A step closer to personalised medicine for Lynch Syndrome patients - Personalised screening can prevent cancer development in MLH1 mutation carriers', BDC 2012. 2nd Biomarker Discovery Conference (2012) [E3]
Co-authors Bente Talseth-Palmer
2012 Scott R, 'Overview of genetic markers for hereditary colorectal cancer', Hereditary Cancer in Clinical Practice (2012) [E3]
2012 Talseth-Palmer B, Wijen J, Brenne I, Jagomohan-Changur S, Baker D, Ashton KA, et al., 'Colorectal cancer risk modification in Lynch syndrome', Human Genome Meeting 2012: Genetics and Genomics in Personalised Medicine. Abstract Book (2012) [E3]
Co-authors Bente Talseth-Palmer
2012 Kiejda KA, Forbes JF, Braye SG, Scott R, 'Identification of miRNAs associated with lymph node metastasis in triple-negative breast cancer', Human Genome Meeting 2012: Genetics and Genomics in Personalised Medicine. Abstract Book (2012) [E3]
Co-authors Kelly Kiejda, John Forbes
2012 Wong-Brown M, Li S, Wilkins M, Kiejda KA, Bowden NA, Scott R, 'Exploratory targeted resequencing of BRCA1 and BRCA2 in inherited breast cancer', Programme. kConFab Familial Aspects of Cancer: Research & Practice 2012 (2012) [E3]
Co-authors Nikola Bowden, Kelly Kiejda, Michelle Wong-Brown
2012 Gleeson M, Spigelman AD, Meldrum CJ, Dooley S, Wong-Brown M, Young B, et al., 'A case of two mutations in trans in a women diagnosed with breast cancer at the age of 3+0 years', Programme. kConFab Familial Aspects of Cancer: Research & Practice 2012 (2012) [E3]
Co-authors Michelle Wong-Brown
2012 Paul DJ, Henskens FA, Loughland CM, McCabe KL, Bridge JE, Duffy L, et al., 'Issues preventing the migration of the Australian Schizophrenia Research Bank to the cloud', Proceedings of the IADIS International Conference On Internet Technologies & Society (2012) [E1]
Co-authors Ulrich Schall, Carmel Loughland, Frans Henskens, Pat Michie
2012 Paul DJ, Henskens FA, Loughland CM, Bridge JE, McCabe KL, Carr VJ, et al., 'IT development and management of a live e-research system: Experiences with the Australian Schizophrenia Research Bank', HEALTHINF 2012 - Proceedings of the International Conference on Health Informatics (2012) [E1]
Co-authors Pat Michie, Ulrich Schall, Frans Henskens, Carmel Loughland
2012 Green MJ, Chia T-Y, Cairns MJ, Wu JQ, Tooney P, Scott RJ, Carr VJ, 'COMT GENOTYPE MODULATES THE EFFECTS OF CHILDHOOD ADVERSITY ON COGNITION AND SYMPTOMS IN SCHIZOPHRENIA', SCHIZOPHRENIA RESEARCH (2012)
Co-authors Paul Tooney, Murray Cairns
2012 Gardiner EJ, Cairns MJ, Beveridge NJ, Liu B, Carr V, Scott R, Tooney P, 'IMMUNE-RELATED DIFFERENTIAL EXPRESSION PROFILE IN PERIPHERAL BLOOD MONONUCLEAR CELLS IN SCHIZOPHRENIA', SCHIZOPHRENIA RESEARCH (2012)
Co-authors Murray Cairns, Paul Tooney
2012 Green MJ, Chia T-Y, Cairns MJ, Tooney P, Scott RJ, Carr VJ, 'COMT MODULATES THE EFFECTS OF LIFETIME CANNABIS USE ON COGNITION AND SYMPTOM PROFILES IN SCHIZOPHRENIA', SCHIZOPHRENIA RESEARCH (2012)
Co-authors Paul Tooney, Murray Cairns
2012 Green MJ, Cairns MJ, Jin Q, Dragovic M, Jablensky A, Tooney P, et al., 'GENOME-WIDE SUPPORTED VARIANTS (MIR137) PREDICTS MEMBERSHIP OF A COGNITIVE SUBTYPE OF SCHIZOPHRENIA', SCHIZOPHRENIA RESEARCH (2012)
Co-authors Paul Tooney, Murray Cairns
2012 Wong-Brown M, Li S, Wilkins M, Kiejda KA, Bowden NA, Scott R, 'Targeted resequencing of BRCA1 and BRCA2 in inherited breast cancer', Cancer Research (2012) [E3]
Co-authors Michelle Wong-Brown, Kelly Kiejda, Nikola Bowden
2012 Loughland CM, McCabe KL, Bridge JE, Henskens FA, Catts S, Jablensky A, et al., 'The Australian Schizophrenia Research Biobank (ASRB): An audit of the first five years of recruitment resource access', Schizophrenia Research (2012) [E3]
Co-authors Ulrich Schall, Pat Michie, Carmel Loughland, Paul Tooney, Frans Henskens
2012 Baines KJ, Simpson JL, Wood LG, Scott RJ, Gibson PG, 'Sputum gene expression of mast cell specific proteases are increased in eosinophilic asthma', Respirology (2012) [E3]
Co-authors Jodie Simpson, Lisa Wood, Peter Gibson, Katherine Baines
2012 Baines KJ, Simpson JL, Wood LG, Scott RJ, Gibson PG, 'Induced sputum differential gene expression implicates increased p38 signalling activity in severe asthma', Respirology (2012) [E3]
Co-authors Katherine Baines, Lisa Wood, Peter Gibson, Jodie Simpson
2012 Ma GZM, Stankovich J, Kilpatrick TJ, Binder MD, Field J, 'Polymorphisms in the receptor tyrosine kinase MERTK gene are associated with multiple sclerosis susceptibility', MULTIPLE SCLEROSIS JOURNAL (2012) [E3]
2012 Cox MB, Scott R, Stankovich J, Kermode A, Cortes A, Brown M, et al., 'The P2X7 receptor: Interaction with a HLA Class II allele which modulates the autoantibody response in multiple sclerosis', Multiple Sclerosis Journal (2012) [E3]
Co-authors Jeannette Lechner-Scott
2012 Talseth-Palmer B, Holliday EG, Evans T-J, McEvoy MA, Attia JR, Grice DM, et al., 'A genome-wide CNV association study of Australian HNPCC/Lynch syndrome patients', Proceedings of the Australian Health & Medical Research Congress 2012 (2012) [E3]
Co-authors Bente Talseth-Palmer, Liz Holliday, Mark Mcevoy, John Attia
2012 Kurlapska A, Serrano-Fernandez P, Starzynska T, Malecka-Panas E, Dabrowski GA, Debniak T, et al., 'Cumulative small effect genetic markers and the detection of advanced colorectal neoplasias by population screening', Hereditary Cancer in Clinical Practice (2012) [E3]
2012 Roselli SM, Moscato PA, Scott R, Hondermarck H, 'Breast cancer proteomics: Integrating the data with genomics and histology towards clinical applications', 18th Proteomics Symposium. Delegate Handbook (2012) [E3]
Co-authors Hubert Hondermarck, Pablo Moscato
2011 Maguire JM, Holliday EG, Sturm J, Golledge J, Lewis M, Koblar S, et al., 'Australian stroke genetics collaborative: Genetic associations with ischaemic stroke functional outcome', International Journal of Stroke (2011) [E3]
Co-authors Christopher Levi, Lisa Lincz, John Attia, Mark Parsons, Liz Holliday, Pablo Moscato
2011 Bowden NA, Ashton KA, Kiejda KA, Zhang XD, Hersey P, Scott R, 'Downstream effects of reduction in nucleotide excision repair in response to cisplatin treatment in melanoma', Pigment Cell & Melanoma Research (2011) [E3]
DOI 10.1111/j.1755-148X.2011.00909.x
Co-authors Nikola Bowden, Kelly Kiejda, Xu Zhang
2011 Vilain R, Braye SG, Ashman LK, Scott R, 'BRAF and NRAS mutational status are prognostically important in thick and locally advanced cutaneous melanoma', Pigment Cell & Melanoma Research (2011) [E3]
DOI 10.1111/j.1755-148X.2011.00909.x
Co-authors Leonie Ashman
2011 Du Sart D, Marum J, Scott R, Macrae F, 'Does the axin gene have a role in polyposis?', 4th Biennial Meeting: International Society for Gastrointestinal Hereditary Tumours (2011) [E3]
2011 Kiejda KA, Forbes JF, Hope TL, Braye SG, Scott R, 'Differential expression of miRNAs in triple-negative breast cancer', AMATA Conference Canberra 2011 Handbook (2011) [E3]
Co-authors Kelly Kiejda, John Forbes
2011 Baines KJ, Simpson JL, Scott R, Wood LG, Gibson PG, 'Systemic upregulation of neutrophil a-defensins and serine proteases in neutrophilic asthma', European Respiratory Society Annual Congress 2011 Abstracts (2011) [E3]
Co-authors Lisa Wood, Katherine Baines, Peter Gibson, Jodie Simpson
2011 Baines KJ, Simpson JL, Scott R, Wood LG, Gibson PG, 'Sputum gene expression of mast cell tryptase and carboxypeptidase A3 are increased in eosinophilic asthma', European Respiratory Society Annual Congress 2011 Abstracts (2011) [E3]
Co-authors Peter Gibson, Lisa Wood, Katherine Baines, Jodie Simpson
2011 Baines KJ, Simpson JL, Scott R, Wood LG, Gibson PG, 'Induced sputum differential gene expression implicates increased p38 signalling activity in severe asthma', European Respiratory Society Annual Congress 2011 Abstracts (2011) [E3]
Co-authors Peter Gibson, Katherine Baines, Lisa Wood, Jodie Simpson
2011 Talseth-Palmer B, Wijnen JT, Brenne IS, Jagmohan-Changur S, Ashton KA, Tops CM, et al., 'Chromosome 8q23.3, 10p14 and 11q23.1 variants modify colorectal cancer risk in Lynch syndrome - a combined analysis of the Australian, Dutch and Polish Lynch syndrome cohorts', Familial Aspects of Cancer: Research and Practice 2011 (2011) [E3]
Co-authors Bente Talseth-Palmer
2011 Kiejda KA, Forbes JF, Braye SG, Scott R, 'MicroRNA expression profiling in triple-negative breast cancer', Keystone Symposia on Mollecular and Cellular Biology: MicroRNAs and Non-coding RNAs and Cancer (2011) [E3]
Co-authors Kelly Kiejda, John Forbes
2011 Loughland CM, McCabe KL, Catts S, Jablensky A, Henskens FA, Michie PT, et al., 'The Australian Schizophrenia Research Bank (ASRB): The first 550 schizophrenia sample profile', Schizophrenia Bulletin (2011) [E3]
Co-authors Paul Tooney, Frans Henskens, Carmel Loughland, Pat Michie, Ulrich Schall
2011 Mossman D, Tooney PA, Cairns MJ, Kelly BJ, Carr V, Scott R, 'Identification of alternatively spliced gene variants in schizophrenia', Schizophrenia Bulletin (2011) [E3]
Co-authors Brian Kelly, Paul Tooney, Murray Cairns
2011 Wong-Brown M, Scott R, Hibberd A, Trevillian PR, Clark D, Meldrum C, 'Measurement of Foxp3 gene expression in renal transplant recipients', Immunology and Cell Biology (2011) [E3]
Co-authors Michelle Wong-Brown
2011 Moscovis SM, Hall ST, Gleeson M, Scott R, Blackwell CC, 'Genetics, gender and environment: Effects on inflammatory responses and implications for Indigenous women', Proceedings of the 3rd Coalition for Research to Improve Aboriginal Health (CRIAH) Aboriginal Health Research Conference (2011) [E3]
Co-authors Sharron Hall, Maree Gleeson, Caroline Blackwell
2011 Johnstone DM, Zandvakili S, Graham R, Trinder D, Scott R, Olynyk J, et al., 'Molecular changes relevant to motor neuron disease in the HFE-/- mouse model of hemochromatosis', Program Book: Fourth Congress of the International BioIron Society (IBIS) (2011) [E3]
Co-authors Pablo Moscato, Liz Milward
2011 Naudin C, Weidenhofer JC, Scott R, Ashman LK, Roselli SM, 'Induction of mindin expression is associated with glomerular basement membrane damage in Cd151(-/-) mice', Nephrology (2011) [E3]
Co-authors Leonie Ashman, Judith Weidenhofer
2011 Talseth-Palmer B, Wijnen JT, Brenne IS, Jagmohan-Changur S, Ashton KA, Tops CM, et al., 'Chromosome 8q23.3 AND 11q23.1 variants modify colorectal cancer risk in Lynch syndrome: A meta-analysis of the Dutch and Australian Lynch syndrome cohorts', Abstracts: 4th Biennial Meeting: International Society for Gastrointestinal Hereditary Tumours (2011) [E3]
Co-authors Bente Talseth-Palmer
2011 Baines KJ, Simpson JL, Scott R, Wood LG, Gibson PG, 'Analysis of systemic gene expression according to inflammatory phenotype of asthma', Respirology (2011) [E3]
Co-authors Peter Gibson, Jodie Simpson, Katherine Baines, Lisa Wood
2011 Gardiner EJ, Beveridge NJ, Liu B, Carr VJ, Scott R, Tooney PA, Cairns MJ, 'Gene expression profiling in peripheral blood mononuclear cells in schizophrenia', The Proceedings of the First Scientific Meeting of Biological Psychiatry Australia (2011) [E3]
Co-authors Paul Tooney, Murray Cairns
2011 Martin AL, Talseth-Palmer B, Grice DM, Hannan G, Scott R, 'Elucidating the genetic predisposition to colorectal cancer', XIX NSW Scientific Meeting. Programme (2011) [E3]
Co-authors Bente Talseth-Palmer
2010 Gleeson M, Cox AJ, Pyne D, Callister R, Scott R, Fricker P, 'Cytokine gene polymorphisms and risk for upper respiratory symptoms in highly-trained athletes', 15th Annual Congress of the ECSS (2010) [E3]
Co-authors Maree Gleeson, Robin Callister
2010 Croft AJ, Kiejda KA, Bowden NA, Zhang X, Scott R, Hersey P, 'Expression profiling on apoptosis-related genes in cisplatin-treated human melanoma cell lines', 22nd Lorne Cancer Conference: Abstracts and Delegate Information (2010) [E3]
Co-authors Nikola Bowden, Kelly Kiejda
2010 Wong-Brown M, Bowden NA, Kiejda KA, Scott R, 'BRIP1 and PALB2 mutation detection in Hunter-New England familial breast cancer cohort', 27th HUGO-IABCR Congress 2010. Genomics, Biology and Breast Cancer Treatment. Programme & Abstract Book (2010) [E3]
Co-authors Nikola Bowden, Kelly Kiejda, Michelle Wong-Brown
2010 Bowden NA, Ashton KA, Kiejda KA, Zhang XD, Hersey P, Scott R, 'Altered nucleotide excision repair gene expression after cisplatin treatment in melanoma', AACR 101st Annual Meeting 2010. Abstracts (2010) [E3]
DOI 10.1158/0008-5472.CAN-10-0161
Co-authors Xu Zhang, Kelly Kiejda, Nikola Bowden
2010 Talseth-Palmer B, Holliday EG, Evans T-J, McPhillips M, Groombridge C, Spigelman AD, Scott R, 'Modifier genes influencing breast cancer incidence in HNPCC/Lynch syndrome', AMATA 2010 Conference: Conference Handbook (2010) [E3]
Co-authors Bente Talseth-Palmer, Liz Holliday
2010 Baines KJ, Simpson JL, Scott R, Wood LG, Gibson PG, 'Molecular phenotypes of asthma defined by gene expression profiling', American Journal of Respiratory and Critical Care Medicine (2010) [E3]
Co-authors Lisa Wood, Jodie Simpson, Peter Gibson, Katherine Baines
2010 Gardiner EJ, Beveridge NJ, Santarelli DMF, Wu JQ, Carr V, Scott R, et al., 'Mirna expression profiling in patients with schizophrenia', Australian & New Zealand Journal of Psychiatry (2010) [E3]
Co-authors Murray Cairns, Paul Tooney
2010 Baines KJ, Simpson JL, Scott R, Wood LG, Gibson PG, 'Analysis of systemic gene expression according to inflammatory phenotype of asthma', Biomarker Discovery Conference (2010) [E3]
Co-authors Lisa Wood, Jodie Simpson, Peter Gibson, Katherine Baines
2010 Scott R, Talseth-Palmer B, Reeves SG, Meldrum, Groombridge C, Spigelman AD, et al., 'MTHFR 677 C>T and 1298 A>C polymorphisms and the age of onset of colorectal cancer in hereditary nonpolyposis colorectal cancer', Familial Cancer (2010) [E3]
DOI 10.1038/ejhg.2008.239
Citations Scopus - 13Web of Science - 13
Co-authors Patrick Mcelduff, Bente Talseth-Palmer
2010 Talseth-Palmer B, McPhillips M, Meldrum C, Groombridge C, Spigelman AD, Scott R, 'Hereditary nonpolyposis colorectal cancer in 688 families: Mutations, age of diagnosis and cancer incidence', Familial Cancer (2010) [E3]
Co-authors Bente Talseth-Palmer
2010 Talseth-Palmer B, McPhillips M, Meldrum C, Groombridge C, Spigelman AD, Scott R, 'Haemochromatosis HFE gene polymorphisms as ptential modifiers of hereditary nonpolyposis colorectal cancer risk and onset age', Familial Cancer (2010) [E3]
Citations Scopus - 22Web of Science - 18
Co-authors Bente Talseth-Palmer
2010 Ashton KA, Bowden NA, Kairupan CF, Kiejda KA, Zhang XD, Hersey P, Scott R, 'Base excision repair and gene expression profiling in malignant melanoma', Sydney Cancer Conference 2010. Profiling Risk, Personalising Treatment and Predicting Outcomes. Conference Program and Abstract Book (2010) [E3]
Co-authors Nikola Bowden, Kelly Kiejda, Xu Zhang
2010 Wong-Brown M, Bowden NA, Forbes JF, Braye SG, Scott R, 'Microsatellite instability (I) in breast tumours', Sydney Cancer Conference 2010. Profiling Risk, Personalising Treatment and Predicting Outcomes. Conference Program and Abstract Book (2010) [E3]
Co-authors John Forbes, Michelle Wong-Brown, Nikola Bowden
2010 Vilain RE, Braye SG, Ashman LK, Scott R, 'Characterisation of KIT mutated melanomas: A step in the development of patient-tailored treatement for melanoma', Sydney Cancer Conference 2010. Profiling Risk, Personalising Treatment and Predicting Outcomes. Conference Program and Abstract Book (2010) [E3]
Co-authors Leonie Ashman
2010 Kiejda KA, Forbes JF, Braye SG, Scott R, 'The relationship between p53 isofor and estrogen receptor-alpha expression in breast cancer', Sydney Cancer Conference 2010. Profiling Risk, Personalising Treatment and Predicting Outcomes. Conference Program and Abstract Book (2010) [E3]
Co-authors Kelly Kiejda, John Forbes
2010 Evans T-J, Talseth-Palmer B, Brenne IS, Ashton KA, McPhillips M, Groombridge C, et al., 'Colorectal cancer suspectibility loci on chr 8q23.3 and 11q23.1 as modifiers for disease expression in Lynch syndrome', Sydney Cancer Conference 2010. Profiling Risk, Personalising Treatment and Predicting Outcomes. Conference Program and Abstract Book (2010) [E3]
Co-authors Bente Talseth-Palmer
2010 Ashton KA, Bowden NA, Kairupan CF, Avery-Kiejda KA, Zhang XD, Hersey P, Scott RJ, 'Base excision repair and gene expression profiling in malignant melanoma', CANCER RESEARCH (2010)
DOI 10.1158/1538-7445.AM10-3944
Co-authors Nikola Bowden, Kelly Kiejda, Xu Zhang
2010 Gardiner E, Beveridge NJ, Santarelli D, Wu J, Carr V, Scott RJ, et al., 'MIRNA EXPRESSION PROFILING IN PATIENTS WITH SCHIZOPHRENIA', AUSTRALIAN AND NEW ZEALAND JOURNAL OF PSYCHIATRY (2010) [E3]
Co-authors Paul Tooney, Murray Cairns
2010 Carr V, Loughland C, McCabe K, Nasir A, Catts S, Jablensky A, et al., 'THE AUSTRALIAN SCHIZOPHRENIA RESEARCH BANK (ASRB): DEMOGRAPHIC, CLINICAL AND NEUROPSYCHOLOGICAL PROFILE OF PARTICIPANTS WITH SCHIZOPHRENIA', AUSTRALIAN AND NEW ZEALAND JOURNAL OF PSYCHIATRY (2010) [E3]
Co-authors Carmel Loughland, Frans Henskens, Paul Tooney, Ulrich Schall
2010 Wu JQ, Cairns MJ, Scott R, Carr V, Mowry B, Jablensky A, et al., 'Genome wide analysis of DNA copy number in schizophrenia reveals loss of heterozygosity on chromosome 6P22.1 and 16P11.2-11.1', Australian & New Zealand Journal of Psychiatry (2010) [E3]
Co-authors Ulrich Schall, Carmel Loughland, Paul Tooney, Murray Cairns
2010 Maguire JM, Thakkinstian A, Levi CR, Lincz L, Bissett KE, Sturm J, et al., 'Genetic influences on ischemic stroke 90-day functional outcome: A novel association', Circulation (2010) [E3]
Co-authors John Attia, Lisa Lincz, Christopher Levi
2010 Carr V, Loughland CM, McCabe KL, Nasir A, Stan C, Jablensky A, et al., 'The Australian Schizophrenia Research Bank (ASRB): Demographic, clinical and neuropsychological profiles for the first 500 participants with schizophrenia', Schizophrenia Research (2010) [E3]
Co-authors Ulrich Schall, Pat Michie, Carmel Loughland, Frans Henskens
2010 Henskens FA, Carr VJ, Catts S, Jablensky A, Michie PT, Loughland CM, et al., 'The Australian Schizophrenia Research Bank (ASRB): An example of eresearch', Schizophrenia Research (2010) [E3]
Co-authors Ulrich Schall, Frans Henskens, Carmel Loughland, Pat Michie
2010 McCabe KL, Loughland CM, Nasir MA, Catts S, Jablensky A, Henskens FA, et al., 'The Australian Schizophrenia Research Bank (ASRB): Quality assurance and control for a comprehensive clinical, neuropsychological, genetic and neuroimaging database for researchers', Schizophrenia Research (2010) [E3]
Co-authors Pat Michie, Carmel Loughland, Frans Henskens, Ulrich Schall
2010 Talseth-Palmer BA, Brenne IS, Ashton K, Evans TJ, McPhillips M, Groombridge C, et al., 'Colorectal cancer susceptibility loci on chr 8q23.3 and 11q23.1 as modifiers for disease expression in Lynch syndrome', EJC SUPPLEMENTS (2010) [E3]
Co-authors Bente Talseth-Palmer
2010 Baines KJ, Simpson JL, Scott R, Wood LG, Gibson PG, 'Molecular phenotypes of asthma defined by gene expression profiling', Respirology (2010) [E3]
Co-authors Jodie Simpson, Katherine Baines, Lisa Wood, Peter Gibson
2010 Talseth-Palmer B, Holliday EG, Evans T-J, McPhillips M, McEvoy MA, Attia JR, Scott R, 'A modern approach to the search for modifying genetic loci infleuncing the high breast cancer incidence seen in an Australian HNPCC/Lynch Syndrome cohort', Proceedings of the Australian Health and Medical Research Congress 2010 (2010) [E3]
Co-authors Bente Talseth-Palmer, John Attia, Liz Holliday, Mark Mcevoy
2009 Hollins SL, Johnstone DM, Graham R, Van Helden DF, Kerr KP, Laver DR, et al., 'Cardiac gene expression in mouse models of iron loading disorders', 2009 International Biolron Society Meeting: Program Book (2009) [E3]
Co-authors Karen Kerr, Dirk Vanhelden, Derek Laver, Liz Milward
2009 Johnstone DM, Graham R, Trinder D, Scott R, Olynyk J, Milward AE, 'Gene expression changes related to Alzheimer's disease and other neurodegenerative disorders in a hemochromatosis Hfe knockout mouse model', 2009 International Biolron Society Meeting: Program Book (2009) [E3]
Co-authors Liz Milward
2009 Johnstone DM, Graham RM, Trinder D, Scott R, Olynyk J, Milward AE, 'Genome-wide microarray analysis of brain from a hemochromatosis Hfe knockout mouse model shows few changes in iron-related gene expression', 2009 International Biolron Society Meeting: Program Book (2009) [E3]
Co-authors Liz Milward
2009 Johnstone DM, Ravetti MG, Riveros C, Moscato PA, Hersey P, Scott R, Milward AE, 'Genome-wide microarray analysis of melanoma reveals unexpected anomalies in iron-related gene expression', 2009 International Biolron Society Meeting: Program Book (2009) [E3]
Co-authors Carlos Riveros, Pablo Moscato, Liz Milward
2009 Kiejda KA, Scurr LL, Wade MA, Jiang CC, Weir AJW, Bowden NA, et al., 'Cisplatin induces apoptosis independently of Noxa or PUMA in human melanoma cells', 21st Lorne Cancer Conference (2009) [E3]
Co-authors Kelly Kiejda, Chenchen Jiang, Xu Zhang, Nikola Bowden
2009 Cox AJ, Pyne D, Gleeson M, Callister R, Fricker P, Scott R, 'Cytokine polymorphisms and risk for upper respiratory symptoms in highly-trained athletes', 9th Symposium of the International Society of Exercise and Immunology: Book of Abstracts (2009) [E3]
Co-authors Maree Gleeson, Robin Callister
2009 Baines KJ, Simpson JL, Scott R, Wood LG, Gibson PG, 'Genome wide gene expression of induced sputum in non-eosinophilic asthma', AMATA 2009 (2009) [E3]
Co-authors Lisa Wood, Peter Gibson, Katherine Baines, Jodie Simpson
2009 Cox MB, Bowden NA, Scott R, Lechner-Scott J, 'Gene expression profiling in multiple sclerosis', AMATA 2009 (2009) [E3]
Co-authors Nikola Bowden, Jeannette Lechner-Scott
2009 Evans T-J, Bowden NA, Talseth-Palmer B, Catchpoole D, Scott R, 'Copy number variation in childhood acute lmphoblastic leukaemia', AMATA 2009 (2009) [E3]
Co-authors Nikola Bowden, Bente Talseth-Palmer
2009 Bowden NA, Ashton KA, Stibbard GJ, Cox MB, Baines KJ, Scott R, 'Predicting xeroderma pigmentosum complementation group by gene expression profiling', AMATA 2009 (2009) [E3]
Co-authors Nikola Bowden, Katherine Baines
2009 Kairupan CF, Bowden NA, Ashton KA, Zhang XD, Hersey P, Scott R, 'Gene expression profiling in malignant melanoma', AMATA 2009 (2009) [E3]
Co-authors Nikola Bowden, Xu Zhang
2009 Johnstone DM, Graham RM, Trinder D, Scott R, Olynyk J, Milward AE, 'Genome-wide brain gene expression changes related to Alzheimer's disease and other neurodegenerative disorders in mouse models of dietary iron overload and human haemochromatosis', ASMR National Scientific Conference 2009. Proceedings of The Australian Society for Medical Research, 48th National Scientific Conference (2009) [E3]
Co-authors Liz Milward
2009 Hollins SL, Johnstone DM, Van Helden DF, Kerr KP, Laver DR, Metelerkamp KM, et al., 'Cardiac gene expression in mouse models of iron loading', ASMR XVII NSW Scientific Meeting: Programme and Abstracts (2009) [E3]
Co-authors Liz Milward, Derek Laver, Karen Kerr, Dirk Vanhelden
2009 Johnstone DM, Ravetti MG, Moscato PA, Hersey P, Scott R, Milward AE, 'Metabolic gene expression in advanced melanoma', ASMR XVII NSW Scientific Meeting: Programme and Abstracts (2009) [E3]
Co-authors Pablo Moscato, Liz Milward
2009 Henskens FA, Carr VJ, Catts SV, Jablenski A, Michie PT, Loughland CM, et al., 'An Example of eResearch: The Australian Schizophrenia Research Bank', Proceedings eResearch 2009 (2009)
Co-authors Pat Michie, Carmel Loughland, Ulrich Schall, Frans Henskens
2009 Henskens FA, Loughland CM, Aphale MS, Paul D, Richards JM, Rasser P, et al., 'it support for the australian schizophrenia research bank', HEALTHINF 2009 - Proceedings of the 2nd International Conference on Health Informatics (2009) [E1]
Citations Scopus - 1
Co-authors Carmel Loughland, Frans Henskens, Ulrich Schall, Pat Michie
2009 Milward AE, Johnstone DM, Ravetti MG, Berretta RE, Hersey P, Scott R, Moscato PA, 'The relationship between Parkinson's disease and melanoma: Insights from microarray analysis of genome-wide gene expression changes in melanoma', ASMR National Scientific Conference 2009. Proceedings of The Australian Society for Medical Research, 48th National Scientific Conference (2009) [E3]
Co-authors Regina Berretta, Liz Milward, Pablo Moscato
2009 Carr VJ, Loughland CM, Catts S, Henskens FA, Jablensky A, Michie PT, et al., 'A database of comprehensive clinical, endophenotypic and genetic data for aetiological studies of schizophrenia', Schizophrenia Bulletin (2009) [E3]
DOI 10.1093/schbul/sbn173
Co-authors Ulrich Schall, Frans Henskens, Pat Michie, Carmel Loughland
2009 Loughland CM, Richards J, Aphale M, Henskens FA, Carr VJ, Catts SV, et al., 'The Australian Schizophrenia Research Bank (ASRB): The development of an electronically delivered clinical assessment battery', Schizophrenia Bulletin (2009) [E3]
DOI 10.3109/00048674.2010.501758
Citations Scopus - 43
Co-authors Pat Michie, Terry Lewin, Carmel Loughland, Frans Henskens, Ulrich Schall
2009 Hall ST, Tzanakaki G, Kremastinou J, Scott R, Blackwell CC, Titmarsh CJ, Moscovis SM, 'Comparison of cytokine gene polymorphisms among Greek patients with meningococcal or viral meningitis', The Pediatric Infectious Disease Journal (2009) [E3]
DOI 10.1097/inf.0b013e3181a51c24
Co-authors Caroline Blackwell, Sharron Hall
2009 Maguire J, Thakkinstian A, Attia JR, Lincz L, Bisset L, Sturm J, et al., 'Impact of COX-2 RS5275, RS20417 and GPIIIA RS5918 polymorphisms on 90 day ischaemic stroke functional outcome: A novel association', Cerebrovascular Diseases (2009) [E3]
DOI 10.1159/000221772
Co-authors John Attia, Christopher Levi, Lisa Lincz
2008 Baines KJ, Simpson JL, Scott R, Gibson PG, 'Ageing alters airway and circulating neutrophil function', Respirology (2008) [E3]
DOI 10.1111/j.1440-1843.2008.01252.x
Co-authors Katherine Baines, Jodie Simpson, Peter Gibson
2008 Baines KJ, Simpson JL, Scott R, Gibson PG, 'Innate immune responses of airway neutrophils are impaired in neutrophilic asthma', Respirology (2008) [E3]
DOI 10.1111/j.1440-1843.2008.01252.x
Co-authors Katherine Baines, Jodie Simpson, Peter Gibson
2008 Carr VJ, Loughland CM, Catts SV, Henskens FA, Jablensky A, Michie PT, et al., 'A progress report on the Australian Schizophrenia Research Bank', Australian and New Zealand Journal of Psychiatry (2008) [E3]
Co-authors Ulrich Schall, Carmel Loughland, Frans Henskens, Pat Michie
2008 Bowden NA, Ashton KA, Kiejda KA, Zhang XD, Hersey P, Scott R, 'Altered nucleotide excision repair gene expression after cisplatin treatment in melanoma', Proceedings of the Australian Health and Medical Research Congress 2008 (2008) [E3]
Co-authors Kelly Kiejda, Nikola Bowden, Xu Zhang
2008 Johnstone DM, Graham R, Trinder D, Scott R, Olynyk JK, Milward AE, 'Alterations in the expression of genes important in Alzheimer's disease (APP presenilin 1 tau) in the HFE knockout mouse model of the iron disorder hemochromatosis', Alzheimer's and Disease (2008) [E3]
Co-authors Liz Milward
2008 Kiejda KA, Zhang XD, Adams LJ, Scott R, Vojtesek B, Lane DP, Hersey P, 'The P53 splice variants, P53B and 40P53, are expressed in human melanoma cells and can differnetially regulate the transcription of P53 target genes in response to cisplatin', 20th Lorne Cancer Conference (2008) [E3]
Co-authors Kelly Kiejda, Xu Zhang
2008 Bowden NA, Baines KJ, Cox MB, Scott R, 'Altered gene expression in nucleotide excision repair deficient fibroblasts after UV-light exposure', AACR Meeting Abstracts (2008) [E3]
Co-authors Nikola Bowden, Katherine Baines
2008 Ashton KA, Proietto AM, Otton GR, Symonds IM, McEvoy MA, Attia JR, et al., 'Combined tp53 r72p and mdm2 snp309 genotypes are associated with high grade endometrial cancer', ASMR XVII NSW Scientific Meeting: Programme and Abstracts (2008) [E3]
Co-authors Mark Mcevoy, Ian Symonds, John Attia
2008 Bowden NA, Baines KJ, Cox MB, Scott R, 'Response to uv-light exposure in fibroblasts with differential nucleotide excision repair capacity', ASMR XVII NSW Scientific Meeting: Programme and Abstracts (2008) [E3]
Co-authors Katherine Baines, Nikola Bowden
2008 Bowden NA, Ashton KA, Baines KJ, Cox MB, Scott R, 'Altered gene expression after UV-light induced DNA damage', Conference on Translational Cancer Research: Abstracts (2008) [E3]
Co-authors Katherine Baines, Nikola Bowden
2008 Ashton KA, Proietto AM, Otton GR, Hamann U, Scott R, 'The genetic basis of endometrial cancer', Conference on Translational Cancer Research: Abstracts (2008) [E3]
2008 Talseth-Palmer B, McPhillips M, Meldrum C, Groombridge C, Spigelman A, Scott R, 'Hereditary nonpolyposis colorectal cancer in families: Mutations, age of diagnosis of cancer and cancer incidence', Conference on Translational Cancer Research: Abstracts (2008) [E3]
Co-authors Bente Talseth-Palmer
2008 Ashton KA, Proietto AM, Otton GR, Hamann U, Scott R, 'The genetic basis of endometrial cancer', Keystone Symposia on Molecular and Cellular Biology: Abstract Book (2008) [E3]
2008 Richards J, Loughland CM, Aphale M, Henskens FA, Carr VJ, Catts SV, et al., 'The Australian Schizophrenia Research Bank (ASRB) computer-based clinical assessment software (CAS): Development and application', Australian and New Zealand Journal of Psychiatry (2008) [E3]
Co-authors Terry Lewin, Carmel Loughland, Frans Henskens, Ulrich Schall, Pat Michie
2007 Carr VJ, Loughland CM, Draganic B, Lewin TJ, Schall UA, Scott R, et al., 'The Australian Schizophrenia Research Bank (ASRB)', Schizophrenia Bulletin (Abstracts of the 11th International Congress on Schizophrenia Research) (2007) [E3]
Co-authors Carmel Loughland, Frans Henskens, Ulrich Schall, Terry Lewin, Pat Michie
2007 Baines KJ, Bowden NA, Scott R, Simpson JL, Gibson PG, 'Molecular analysis of neutrophils in asthma subtypes', Respirology (TSANZ Abstracts-Posters) (2007) [E3]
DOI 10.1111/j.1440-1843.2007.001050.x
Co-authors Peter Gibson, Katherine Baines, Jodie Simpson, Nikola Bowden
2007 Cox M, Bowden NA, Moscato PA, Berretta RE, Scott R, 'Memetic algorithms as a new method to interpret gene expression profiles in multiple sclerosis', Multiple Sclerosis (Abstracts of the 23rd Congress of the European Committee for Treatment and Research in Multiple Sclerosis and the 12th Annual Conference of Rehabilitation in Multiple Sclerosis) (2007) [E3]
Citations Web of Science - 2
Co-authors Jeannette Lechner-Scott, Nikola Bowden, Regina Berretta, Pablo Moscato
2007 Hall ST, Stuart JE, Blackwell CC, Robilliard M, Dorrington R, Ashhurst-Smith CIJ, et al., '24 Common Themes of Successful Health Service Models in Rural Australia', 2007 Rural Health Research Colloquium. Official Program (2007) [E3]
Co-authors Caroline Blackwell
2007 Kiejda KA, Zhang XD, Adams LJ, Scott R, Vojtesek B, Lane DP, Hersey P, 'MEK/ERK-mediated regulation of the Bcl-2 family members Mcl-1, PUMA, and Bim contributes to survival of human melanoma cells', 4th Garvan Signalling Symposium. Conference Proceedings (2007) [E3]
Co-authors Kelly Kiejda, Xu Zhang
2007 Kiejda KA, Zhang XD, Adams LJ, Scott R, Vojtesek B, Lane DP, Hersey P, 'Small molecular weight variants of p53 are expressed in human melanoma cells and are induced by cisplatin', 4th Garvan Signalling Symposium. Conference Proceedings (2007) [E3]
Co-authors Xu Zhang, Kelly Kiejda
2007 Reeves SG, Scott R, Rich D, Meldrum CJ, Colyvas KJ, Kurzawski G, et al., 'IGF-1 is a modifier of disease risk in Hereditary non-polyposis colorectal cancer', Journal of Medical Genetics (2007) [E3]
Co-authors Kim Colyvas
2007 Loughland C, Michie PM, Stain H, Babcock J, Jablensky A, Draganic D, et al., 'The national recruitment and assessment of people with schizophrenia: The ASRB experience', Proceedings ASPR 2007 (2007)
Co-authors Frans Henskens, Carmel Loughland, Ulrich Schall, Pat Michie, Terry Lewin
2007 Simpson JL, Powell H, Boyle MJ, Scott R, Gibson PG, 'Anti-inflammatory effects of clarithromycin in refractory non-eosinophilic asthma', Respirology (TSANZ Abstracts-Posters) (2007) [E3]
DOI 10.1111/j.1440-1843.2007.001050.x
Co-authors Peter Gibson, Jodie Simpson
2007 Cairns MJ, Beveridge NJ, Carroll A, Scott R, Tooney PA, 'Investigation of post transcriptional gene silencing in schizophrenia', Schizophrenia Bulletin (Abstracts of the 11th International Congress on Schizophrenia Research) (2007) [E3]
Co-authors Paul Tooney, Murray Cairns
2007 Tooney PA, Scott R, Cairns MJ, Bowden NA, 'Altered gene expression in the superior temporial gyrus in schizophrenia', Schizophrenia Bulletin (Abstracts of the 11th International Congress on Schizophrenia Research) (2007) [E3]
Co-authors Nikola Bowden, Paul Tooney, Murray Cairns
2006 Simpson JL, Scott R, Boyle MJ, Oldham RA, Gibson PG, 'IL-8 levels ininflammatory subtypes of airway disease', Respirology (2006) [E3]
Co-authors Peter Gibson, Jodie Simpson
2006 Simpson JL, Scott R, Boyle MJ, Gibson PG, 'Inflammatory subtypes in asthma with fixed airflow obstruction', Respirology (2006) [E3]
Co-authors Peter Gibson, Jodie Simpson
2006 Baines KJ, Simpson JL, Scott R, Bell NV, Boyle MJ, Gibson PG, 'Enhanced IL-8 release from neutrophils in non-eosinophilic asthma', Respirology (2006) [E3]
Co-authors Jodie Simpson, Peter Gibson, Katherine Baines
2006 Simpson JL, Grissell TV, Douwes J, Scott R, Boyle MJ, Gibson PG, 'Innate immune activation in neutrophilic asthma', The Journal of the Japanese Respiratory Society (2006) [E3]
Co-authors Peter Gibson, Jodie Simpson
2006 Simpson JL, Scott R, Boyle MJ, Gibson PG, 'Inflammatory subtypes in Asthma with fixed airflow obstruction', American Thoracic Society. Proceedings (2006) [E3]
Co-authors Jodie Simpson, Peter Gibson
2006 Ashton KA, Meldrum CJ, McPhillips ML, Suchy J, Kurzawski G, Lubinski J, Scott R, 'Are polymorphisms in the toll-like receptors associated with disease risk in HNPCC?', 11th International Human Genetics: Final Program (2006) [E3]
2006 Weidenhofer JC, Bowden NA, Scott R, Tooney PA, 'Dysfunction of genes regulating membrane exocytosis in schizophrenia (Poster presentation)', Australian and New Zealand Journal of Psychiatry (Vol 40, noS2) (2006) [E3]
Co-authors Paul Tooney, Judith Weidenhofer, Nikola Bowden
2006 Ronan A, Thakkinstian A, Zakaria S, Settakorn J, Moscovis SM, Scott R, et al., 'The role of MTHFR polymorphisms and dietary folate in childhood cancer', Program of the 11th International Congress of Human Genetics (2006) [E3]
Co-authors John Attia
2005 Russell SH, Loughland CM, Tooney PA, Scott R, Carr VJ, 'The Hunter DNA bank for schizophrenia and allied disorders: A unique Australian Resource facilitating genetic research into mental illness', Abstracts for The Royal Australian & NZ College of Psychiatrists Joint CINP/ASPR Scientific Meeting (2005) [E3]
Co-authors Paul Tooney, Carmel Loughland
2005 Foster R, Byrnes E, Ferrao P, Meldrum C, Ross G, Upjohn E, et al., 'A polymorphism in the transmembrane domain of c-KIT associated with pediatric mastocytosis', JOURNAL OF INVESTIGATIVE DERMATOLOGY (2005)
Co-authors Leonie Ashman
2005 Bains KJ, Bell NV, Simpson JL, Scott RJ, Boyle MJ, Gibson PG, 'Enhanced IL-8 Release front Neutrophils in Non-Eosinophilic Asthma', INFLAMMATION RESEARCH (2005)
Co-authors Peter Gibson, Jodie Simpson
2005 Bowden NA, Weidenhofer JC, Scott R, Schall UA, Todd J, Michie PT, Tooney PA, 'Classification of schizophrenia using differential gene expression in peripheral blood lymphocytes', Human Genetics Society of Australasia (2005) [E3]
Co-authors Pat Michie, Juanita Todd, Ulrich Schall, Judith Weidenhofer, Paul Tooney, Nikola Bowden
2005 Ashton KA, Talseth-Palmer B, Meldrum CJ, McPhillips ML, Scott R, 'COMT polymorphism (V158M) and its association with endometrial cancer in HNPCC families that adhere to the Amsterdam or Bethesda criteria', Human Genetics Society of Australasia 29th Annual Conference (2005) [E3]
Co-authors Bente Talseth-Palmer
2005 Talseth-Palmer B, Meldrum C, Ashton KA, Scott R, 'Age of disease onset in HNPCC patients is more complex than that predicted by R72P polymorphism in TP53', Human Genetics Society of Australasia 29th Annual Conference (2005) [E3]
Co-authors Bente Talseth-Palmer
2004 Bowden NA, Weidenhofer JC, Scott R, Todd J, Case V, Schall UA, Tooney PA, 'Altered Expression of Brain Related Genes in Lymphocytes in Schizophrenia', American Journal of Medical Genetics (2004) [E3]
DOI 10.1002/ajmg.b.30101
Co-authors Paul Tooney, Nikola Bowden, Juanita Todd, Judith Weidenhofer, Ulrich Schall
2004 Weidenhofer JC, Bowden NA, Scott R, Tooney PA, 'Gene Profiling in the Amygdala in Schizophrenia', American Journal of Medical Genetics (2004) [E3]
Co-authors Judith Weidenhofer, Paul Tooney, Nikola Bowden
2004 Bowden NA, Weidenhofer JC, Scott R, Todd J, Case V, Schall UA, Tooney PA, 'Differental Gene Expression in Peripheral Blood Lymphocytes in Schizophrenia', Proceedings of the Australian Neuroscience Society (2004) [E3]
Co-authors Judith Weidenhofer, Ulrich Schall, Nikola Bowden, Juanita Todd, Paul Tooney
2004 Weidenhofer JC, Bowden NA, Scott R, Tooney PA, 'Altered Gene Expression Profiles in the Amygdala in Schizophrenia', Proceedings of the Australian Neuroscience Society (2004) [E3]
Co-authors Nikola Bowden, Judith Weidenhofer, Paul Tooney
2004 Bowden NA, Weidenhofer JC, Scott R, Todd J, Case V, Schall UA, Tooney PA, 'Distinct Gene Expression Profiles due to Age in Schizophrenia', Proceedings of the Australian Neuroscience Society (2004) [E3]
Co-authors Ulrich Schall, Paul Tooney, Judith Weidenhofer, Juanita Todd, Nikola Bowden
2003 Spigelman AD, Gani JS, Burgess BT, Groombridge C, Dudding TE, Ingrey AJ, et al., 'Advanced Duodenal Polyposis: Literature review and experience with pancreas-sparing duodenectomy inpatients with familial adenomatous polyposis (FAP)', Familial Cancer (2003) [E4]
Co-authors Maree Gleeson, T Dudding
2003 Edwards M, Roddick L, Scott R, 'Autosomal dominant nonsyndromic cleft lip and palate linked to chromosome 4', AMERICAN JOURNAL OF HUMAN GENETICS (2003)
1999 Heinimann K, Scott RJ, Buerstedde JM, Weber W, Siebold K, Attenhofer M, et al., 'Influence of selection criteria on mutation detection in patients with hereditary nonpolyposis colorectal cancer', CANCER (1999)
DOI 10.1002/(SICI)1097-0142(19990615)85:12<2512::AID-CNCR4>3.0.CO;2-G
Citations Web of Science - 30
1992 Muller H, Mosimann S, Gebhardt M, Scott R, Spycher M, Weber W, 'Malignancies in the families of 600 breast cancer patients with special consideration of familial adenocarcinoma and the Li-Fraumeni/SBLA syndrome', Helvetica Chirurgica Acta (1992)
Citations Scopus - 1
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Grants and Funding

Summary

Number of grants 146
Total funding $29,466,759

Click on a grant title below to expand the full details for that specific grant.


20201 grants / $324,692

What predicts the progressive phase of multiple sclerosis$324,692

Funding body: NHMRC (National Health & Medical Research Council)

Funding body NHMRC (National Health & Medical Research Council)
Project Team Laureate Professor Rodney Scott, Professor Bruce Taylor, Conjoint Professor Jeannette Lechner-Scott, Dr Rodney Lea
Scheme Project Grant
Role Lead
Funding Start 2020
Funding Finish 2020
GNo G1700152
Type Of Funding Aust Competitive - Commonwealth
Category 1CS
UON Y

20173 grants / $415,513

Enabling real-time clinical data capture for biobanks using electronic medical records$207,505

Funding body: Cancer Institute NSW

Funding body Cancer Institute NSW
Project Team Professor John Pimanda, Associate Professor Kevin Spring, Laureate Professor Rodney Scott, Associate Professor Deborah Marsh
Scheme Biobanking Stakeholder Network
Role Lead
Funding Start 2017
Funding Finish 2018
GNo G1700904
Type Of Funding Other Public Sector - State
Category 2OPS
UON Y

HMRI MRSP Cancer Research Program$190,008

Funding body: Hunter Medical Research Institute

Funding body Hunter Medical Research Institute
Project Team Conjoint Professor Stephen Ackland, Professor Xu Dong Zhang, Laureate Professor Rodney Scott, Doctor Nikki Verrills, Conjoint Associate Professor Jarad Martin, Doctor Steve Smith, Associate Professor Christine Paul, Conjoint Professor Peter Greer, Conjoint Associate Professor Anthony Proietto, Doctor Fiona Day, Associate Professor Christopher Scarlett
Scheme NSW MRSP Infrastructure Grant
Role Investigator
Funding Start 2017
Funding Finish 2017
GNo G1700603
Type Of Funding Other Public Sector - State
Category 2OPS
UON Y

Investigation of erythrocyte microRNA content in Multiple Sclerosis$18,000

Funding body: Multiple Sclerosis Research Australia Limited

Funding body Multiple Sclerosis Research Australia Limited
Project Team Conjoint Professor Jeannette Lechner-Scott, Laureate Professor Rodney Scott, Doctor Vicki Maltby
Scheme Incubator Grant
Role Investigator
Funding Start 2017
Funding Finish 2017
GNo G1600995
Type Of Funding Aust Competitive - Non Commonwealth
Category 1NS
UON Y

20164 grants / $544,337

Extending the strategic importance of the Australian Breast Cancer Tissue Bank to facilitate breast cancer research$375,000

Funding body: National Breast Cancer Foundation

Funding body National Breast Cancer Foundation
Project Team Laureate Professor Rodney Scott, Rosemary Balleine, Robert Baxter, Professor Christine Clarke, Professor Jane Dahlstrom, Andrew Dean, Professor John Forbes, Professor Soon Lee, Associate Professor Deborah Marsh, Nirmala Pathmanathan, Dr Peter Simpson, Associate Professor Nicholas Wilcken, Desmond Yip, Dr Nikolajs Zeps
Scheme National Infrastructure Grant
Role Lead
Funding Start 2016
Funding Finish 2017
GNo G1501368
Type Of Funding Grant - Aust Non Government
Category 3AFG
UON Y

A systems biology capability for the Ramaciotti Centre for Genomics$75,592

Funding body: ARC (Australian Research Council)

Funding body ARC (Australian Research Council)
Project Team Associate Professor Stuart Cordwell, Associate Professor Steven Djordjevic, Professor Marc Wilkins, Professor Rick Cavicchioli, Professor Nicolle Packer, Professor Gilles Guillemin, Associate Professor Ann Goodchild, Laureate Professor Rodney Scott, Doctor Rick Thorne, Professor Hubert Hondermarck, Dr Dianne McDougald, Dr Garruy Myers, Professor David James, Professor Stephen Simpson, Professor Richard Payne
Scheme Linkage Infrastructure Equipment & Facilities (LIEF)
Role Lead
Funding Start 2016
Funding Finish 2016
GNo G1600914
Type Of Funding Scheme excluded from IGS
Category EXCL
UON Y

A systems biology capability for the Ramaciotti Centre for Genomics$72,000

Funding body: University of Newcastle

Funding body University of Newcastle
Project Team Associate Professor Stuart Cordwell, Professor David James, Professor Stephen Simpson, Professor Richard Payne, Professor Rick Cavicchioli, Professor Nicolle Packer, Professor Gilles Guillemin, Associate Professor Ann Goodchild, Laureate Professor Rodney Scott, Doctor Rick Thorne, Professor Hubert Hondermarck, Associate Professor Steven Djordjevic, Dr Dianne McDougald, Dr Garruy Myers
Scheme Equipment Grant
Role Lead
Funding Start 2016
Funding Finish 2016
GNo G1500600
Type Of Funding Internal
Category INTE
UON Y

Angiotensin system inhibitors potentiate the efficacy of bevacizumab in the treatment of cancer$21,745

Funding body: John Hunter Hospital Charitable Trust

Funding body John Hunter Hospital Charitable Trust
Project Team Professor Eugenie Lumbers, Conjoint Associate Professor Anthony Proietto, Laureate Professor Rodney Scott, Doctor Kirsty Pringle
Scheme Research Grant
Role Investigator
Funding Start 2016
Funding Finish 2016
GNo G1600598
Type Of Funding Other Public Sector - State
Category 2OPS
UON Y

20158 grants / $1,765,096

High resolution fourier transform mass spectrometry platform for the discovery of novel cancer biomarkers and drug targets using label-free and isobaric-tagged approaches for quantitative proteomics.$500,000

Funding body: Cancer Institute NSW

Funding body Cancer Institute NSW
Project Team Professor Xu Dong Zhang, Doctor Matt Dun, Professor Jennifer Martin, Professor Hubert Hondermarck, Laureate Professor John Aitken, Doctor Nikki Verrills, Doctor Pradeep Tanwar, Laureate Professor Rodney Scott, Professor Maria Kavallaris, Dr Darren Saunders
Scheme Research Equipment Grant
Role Investigator
Funding Start 2015
Funding Finish 2016
GNo G1500599
Type Of Funding Other Public Sector - State
Category 2OPS
UON Y

Elevated INPP4B as a biomarker and therapeutic target in colorectal cancer$343,987

Funding body: Cancer Council NSW

Funding body Cancer Council NSW
Project Team Professor Xu Dong Zhang, Laureate Professor Rodney Scott
Scheme Research Grant
Role Investigator
Funding Start 2015
Funding Finish 2017
GNo G1400352
Type Of Funding Grant - Aust Non Government
Category 3AFG
UON Y

Advanced Technical Support for Oncology Single Cell Analysis Technologies$300,000

Funding body: Cancer Institute NSW

Funding body Cancer Institute NSW
Project Team Laureate Professor Rodney Scott, Professor Xu Dong Zhang, Professor Hubert Hondermarck, Conjoint Professor Stephen Ackland, Doctor Craig Gedye, Doctor Pradeep Tanwar, Doctor Chen Chen Jiang, Doctor Matt Dun, Professor Paul de Souza, Associate Professor Kevin Spring, Dr Tao Liu
Scheme Research Infrastructure Grants
Role Lead
Funding Start 2015
Funding Finish 2018
GNo G1500824
Type Of Funding Other Public Sector - State
Category 2OPS
UON Y

The Hunter Cancer Biobank (HCB): Maximising community value through validation, annotation and distribution throughout NSW$300,000

Funding body: Cancer Institute NSW

Funding body Cancer Institute NSW
Project Team Professor Marjorie Walker, Conjoint Professor Stephen Ackland, Laureate Professor Rodney Scott, Professor John Forbes, Professor Xu Dong Zhang, Doctor Pradeep Tanwar, Doctor Nikola Bowden, Doctor Craig Gedye, Doctor James Lynam, Doctor Kelly Kiejda, Doctor Jennette Sakoff, Mr Loui Rassam, Dr Tara Roberts, Professor Soon Lee, Dr Betty Kan
Scheme Research Infrastructure Grants
Role Investigator
Funding Start 2015
Funding Finish 2018
GNo G1500825
Type Of Funding Other Public Sector - State
Category 2OPS
UON Y

High resolution fourier transform mass spectrometry platform for the discovery of novel cancer biomarkers and drug targets using label-free and isobaric-tagged approaches for quantitative proteomics.$196,250

Funding body: University of Newcastle

Funding body University of Newcastle
Project Team Professor Xu Dong Zhang, Doctor Matt Dun, Professor Jennifer Martin, Professor Hubert Hondermarck, Laureate Professor John Aitken, Doctor Nikki Verrills, Doctor Pradeep Tanwar, Laureate Professor Rodney Scott, Professor Maria Kavallaris, Dr Darren Saunders
Scheme Equipment Grant
Role Investigator
Funding Start 2015
Funding Finish 2015
GNo G1500935
Type Of Funding Internal
Category INTE
UON Y

MRSP Funding: Biological Sample Resource Manager$62,184

Funding body: Hunter Medical Research Institute

Funding body Hunter Medical Research Institute
Project Team Laureate Professor Rodney Scott
Scheme NSW MRSP Infrastructure Grant
Role Lead
Funding Start 2015
Funding Finish 2016
GNo G1501060
Type Of Funding Other Public Sector - State
Category 2OPS
UON Y

Destroying kidney cells that evade current treatments$46,000

Funding body: Kidney Health Australia

Funding body Kidney Health Australia
Project Team Doctor Craig Gedye, Doctor Nikola Bowden, Laureate Professor Rodney Scott
Scheme Medical Research Project Grants
Role Investigator
Funding Start 2015
Funding Finish 2015
GNo G1401048
Type Of Funding Grant - Aust Non Government
Category 3AFG
UON Y

Too Much of a Good Thing: Application for a triple-gas incubator to allow cell culture under normal conditions$16,675

Funding body: Hunter Medical Research Institute

Funding body Hunter Medical Research Institute
Project Team Doctor Craig Gedye, Laureate Professor Rodney Scott, Doctor Nikola Bowden, Associate Professor Simon Keely, Doctor Kathryn Skelding
Scheme Research Grant
Role Investigator
Funding Start 2015
Funding Finish 2015
GNo G1500730
Type Of Funding Grant - Aust Non Government
Category 3AFG
UON Y

201418 grants / $6,689,062

High Throughput Image Capture Platform for Translational Cancer Research$282,614

Funding body: Cancer Institute NSW

Funding body Cancer Institute NSW
Project Team Conjoint Professor Stephen Ackland, Laureate Professor Rodney Scott, Professor John Forbes, Professor Xu Dong Zhang, Professor Marjorie Walker, Professor Hubert Hondermarck, Doctor Craig Gedye, Doctor Rick Thorne, Mr Loui Rassam, Doctor Stephen Braye
Scheme Research Equipment Grant
Role Investigator
Funding Start 2014
Funding Finish 2014
GNo G1400626
Type Of Funding Other Public Sector - State
Category 2OPS
UON Y

Embedding patient tissue banking consent into routine clinical practice: To maximize state-wide consent and enable a patient-led approach to tissue banking$265,000

Funding body: Cancer Institute NSW

Funding body Cancer Institute NSW
Project Team Laureate Professor Rodney Scott, Doctor Craig Gedye, Associate Professor Christine Paul, Assoc. Prof Nicholas Hawkins, Associate Professor Deborah Marsh, Professor Phil Crowe
Scheme Community of Practice Program
Role Lead
Funding Start 2014
Funding Finish 2015
GNo G1400792
Type Of Funding Grant - Aust Non Government
Category 3AFG
UON Y

The Virtuous Circle: A Living Brain Cancer BioBank$242,176

Funding body: Hunter Medical Research Institute

Funding body Hunter Medical Research Institute
Project Team Laureate Professor Rodney Scott, Doctor Craig Gedye
Scheme Project Grant
Role Lead
Funding Start 2014
Funding Finish 2017
GNo G1401406
Type Of Funding Grant - Aust Non Government
Category 3AFG
UON Y

Unifying genomics and methylation studies of multiple sclerosis$220,000

Funding body: Multiple Sclerosis Research Australia Limited

Funding body Multiple Sclerosis Research Australia Limited
Project Team Conjoint Professor Jeannette Lechner-Scott, Laureate Professor Rodney Scott, Associate Professor Helmut Butzkueven, Professor Bruce Taylor
Scheme Project Grant
Role Investigator
Funding Start 2014
Funding Finish 2017
GNo G1400570
Type Of Funding Aust Competitive - Non Commonwealth
Category 1NS
UON Y

Expanding the Genomic Frontier - from Species to Strains and Individuals to Populations$150,000

Funding body: University of Newcastle

Funding body University of Newcastle
Project Team Professor Marc Wilkins, Professor Rick Cavicchioli, Professor Brett Neilan, Laureate Professor Rodney Scott, Laureate Professor Paul Foster, Associate Professor Phillip Dickson, Professor Ian Charles, Associate Professor Elizabeth Harry, Associate Professor Steven Djordjevic, Associate Professor Cynthia Whitchurch, Professor Ian Paulsen, Professor Nicolle Packer, Professor Michael Gillings
Scheme Equipment Grant
Role Lead
Funding Start 2014
Funding Finish 2014
GNo G1300426
Type Of Funding Internal
Category INTE
UON Y

Characterization of Epigenetic Profiles in Patients with Multiple Sclerosis$150,000

Funding body: Canadian Institutes of Health Research

Funding body Canadian Institutes of Health Research
Project Team Doctor Vicki Maltby, Laureate Professor Rodney Scott
Scheme Fellowship Award
Role Investigator
Funding Start 2014
Funding Finish 2016
GNo G1301250
Type Of Funding International - Competitive
Category 3IFA
UON Y

Expanding the Genomic Frontier - from Species to Strains and Individuals to Populations$128,147

Funding body: ARC (Australian Research Council)

Funding body ARC (Australian Research Council)
Project Team Professor Marc Wilkins, Professor Rick Cavicchioli, Professor Brett Neilan, Laureate Professor Rodney Scott, Laureate Professor Paul Foster, Associate Professor Phillip Dickson, Professor Ian Paulsen, Professor Nicolle Packer, Professor Michael Gillings, Professor Ian Charles, Associate Professor Elizabeth Harry, Associate Professor Steven Djordjevic, Associate Professor Cynthia Whitchurch
Scheme Linkage Infrastructure Equipment & Facilities (LIEF)
Role Lead
Funding Start 2014
Funding Finish 2014
GNo G1301339
Type Of Funding Scheme excluded from IGS
Category EXCL
UON Y

Visualisation of microparticles for development of biomarkers and targeted drug delivery mechanisms$125,199

Funding body: Cancer Institute NSW

Funding body Cancer Institute NSW
Project Team Associate Professor Christopher Scarlett, Doctor Kathryn Skelding, Doctor Jude Weidenhofer, Doctor Matt Dun, Doctor Kelly Kiejda, Professor Adam McCluskey, Ms Elham Sadeqzadeh, Professor Hubert Hondermarck, Doctor Rick Thorne, Laureate Professor Rodney Scott
Scheme Research Equipment Grant
Role Investigator
Funding Start 2014
Funding Finish 2014
GNo G1400627
Type Of Funding Other Public Sector - State
Category 2OPS
UON Y

The Nanostring nCounter System$75,000

Funding body: Ramaciotti Foundations

Funding body Ramaciotti Foundations
Project Team Professor Darryl Knight, Professor Phil Hansbro, Laureate Professor Paul Foster, Laureate Professor Rodney Scott, Conjoint Professor Peter Gibson, Professor Michael Nilsson
Scheme Major Equipment Award
Role Investigator
Funding Start 2014
Funding Finish 2014
GNo G1300853
Type Of Funding Grant - Aust Non Government
Category 3AFG
UON Y

Biobanking Stakeholder Network Pre-Operative Consent Project$55,580

Funding body: Cancer Institute NSW

Funding body Cancer Institute NSW
Project Team Laureate Professor Rodney Scott, Conjoint Professor Stephen Ackland
Scheme Community of Practice Program
Role Lead
Funding Start 2014
Funding Finish 2014
GNo G1301060
Type Of Funding Other Public Sector - State
Category 2OPS
UON Y

The Nanostring nCounter System$40,000

Funding body: Hunter Medical Research Institute

Funding body Hunter Medical Research Institute
Project Team Professor Darryl Knight, Professor Phil Hansbro, Laureate Professor Paul Foster, Laureate Professor Rodney Scott, Conjoint Professor Peter Gibson, Professor Michael Nilsson
Scheme Equipment Grant
Role Investigator
Funding Start 2014
Funding Finish 2014
GNo G1301083
Type Of Funding Other Public Sector - State
Category 2OPS
UON Y

Targeted next-generation sequencing of potential breast cancer susceptibility genes$30,000

Funding body: Hunter Medical Research Institute

Funding body Hunter Medical Research Institute
Project Team Doctor Michelle Brown, Laureate Professor Rodney Scott
Scheme Bridging Grant
Role Investigator
Funding Start 2014
Funding Finish 2014
GNo G1301293
Type Of Funding Grant - Aust Non Government
Category 3AFG
UON Y

Genetic and Environmental Determinants of Depressive Symptoms: Trajectory and Outcomes in a Longitudinal Population Data Set$30,000

Funding body: Hunter Medical Research Institute

Funding body Hunter Medical Research Institute
Project Team Professor Brian Kelly, Associate Professor Paul Tooney, Laureate Professor Rodney Scott, Professor John Attia, Professor Murray Cairns, Professor Vaughan Carr
Scheme Project Grant
Role Investigator
Funding Start 2014
Funding Finish 2014
GNo G1400594
Type Of Funding Grant - Aust Non Government
Category 3AFG
UON Y

Antipituitary Autoantibodies and Pituitary Target Autoantigen Characterization$25,000

Funding body: Hunter Medical Research Institute

Funding body Hunter Medical Research Institute
Project Team Doctor Vicki Maltby, Conjoint Associate Professor Patricia Crock, Laureate Professor Rodney Scott
Scheme Project Grant
Role Investigator
Funding Start 2014
Funding Finish 2014
GNo G1301324
Type Of Funding Grant - Aust Non Government
Category 3AFG
UON Y

Biological characterisation of genetic associations for large artery atherosclerotic stroke$25,000

Funding body: Hunter Medical Research Institute

Funding body Hunter Medical Research Institute
Project Team Doctor Liz Holliday, Laureate Professor Rodney Scott, Conjoint Professor Chris Levi, Professor John Attia, Aprof JANE Maguire
Scheme Stroke Research Project Grant
Role Investigator
Funding Start 2014
Funding Finish 2014
GNo G1301340
Type Of Funding Grant - Aust Non Government
Category 3AFG
UON Y

The Nanostring nCounter System$20,000

Funding body: John Hunter Hospital Charitable Trust

Funding body John Hunter Hospital Charitable Trust
Project Team Professor Darryl Knight, Professor Phil Hansbro, Laureate Professor Paul Foster, Laureate Professor Rodney Scott, Conjoint Professor Peter Gibson, Professor Michael Nilsson
Scheme Research Grant
Role Investigator
Funding Start 2014
Funding Finish 2014
GNo G1301084
Type Of Funding Other Public Sector - State
Category 2OPS
UON Y

A new frontier in breast cancer: Can small molecules in the blood predict outcome?$20,000

Funding body: Hunter Medical Research Institute

Funding body Hunter Medical Research Institute
Project Team Doctor Kelly Kiejda, Doctor Jude Weidenhofer, Laureate Professor Rodney Scott
Scheme Project Grant
Role Investigator
Funding Start 2014
Funding Finish 2014
GNo G1401454
Type Of Funding Grant - Aust Non Government
Category 3AFG
UON Y

201313 grants / $1,618,818

Enabling Clinical Epigenetic Diagnostics: The Next Generation of Personalized Breast Cancer Care$605,301

Funding body: National Breast Cancer Foundation

Funding body National Breast Cancer Foundation
Project Team Professor Matt Trau, Assoc. Prof Glenn Francis, Assoc. Prof Susan Clark, Professor John Forbes, Dr Melissa Brown, Professor Alexander Dobrovic, Laureate Professor Rodney Scott
Scheme Collaborative Breast Cancer Research Grant Program
Role Lead
Funding Start 2013
Funding Finish 2018
GNo G1201095
Type Of Funding Aust Competitive - Non Commonwealth
Category 1NS
UON Y

HMRI MRSP Infrastructure (12-16) - IBM (Information Based Medicine Program)$228,910

Funding body: Hunter Medical Research Institute

Funding body Hunter Medical Research Institute
Project Team Laureate Professor Rodney Scott, Professor Pablo Moscato
Scheme NSW MRSP Infrastructure Grant
Role Lead
Funding Start 2013
Funding Finish 2016
GNo G1300874
Type Of Funding Other Public Sector - State
Category 2OPS
UON Y

Uncovering the link between obesity and cancer using random forests in an elastic cloud$206,743

Funding body: Cancer Institute NSW

Funding body Cancer Institute NSW
Project Team Laureate Professor Rodney Scott, Doctor Bente Talseth-Palmer
Scheme NSW Premier's Awards for Outstanding Cancer Research: "Big Data, Big Impact" Grant
Role Lead
Funding Start 2013
Funding Finish 2014
GNo G1300824
Type Of Funding Other Public Sector - State
Category 2OPS
UON Y

A Research Platform for Exploring the Genotype:Phenotype Nexus$120,000

Funding body: University of Newcastle

Funding body University of Newcastle
Project Team Associate Professor Elizabeth Harry, Professor Ian Paulsen, Professor Marc Wilkins, Professor Peter Waterhouse, Laureate Professor Rodney Scott, Associate Professor Steven Djordjevic, Professor Brett Neilan, Professor Rick Cavicchioli, Professor Ian Charles, Professor Nicolle Packer, Emeritus Professor Ray Rose, Associate Professor Neville Firth, Dr Gyorgy Hutvagner, Associate Professor Cynthia Whitchurch, Associate Professor Robert Willows, Dr Bret Church
Scheme Equipment Grant
Role Lead
Funding Start 2013
Funding Finish 2013
GNo G1200250
Type Of Funding Internal
Category INTE
UON Y

A genome wide association study on childhood brain tumours$115,000

Funding body: Hunter Medical Research Institute

Funding body Hunter Medical Research Institute
Project Team Laureate Professor Rodney Scott, Doctor Frank Alvaro, Miss TIFFANY Evans, Professor John Attia, Doctor Liz Holliday, Dr Elizabeth Milne, Professor Bruce Armstrong
Scheme Research Grant
Role Lead
Funding Start 2013
Funding Finish 2015
GNo G1301149
Type Of Funding Grant - Aust Non Government
Category 3AFG
UON Y

A Research Platform for Exploring the Genotype:Phenotype Nexus$114,416

Funding body: ARC (Australian Research Council)

Funding body ARC (Australian Research Council)
Project Team Associate Professor Elizabeth Harry, Professor Ian Paulsen, Professor Marc Wilkins, Professor Peter Waterhouse, Laureate Professor Rodney Scott, Associate Professor Steven Djordjevic, Professor Brett Neilan, Professor Rick Cavicchioli, Professor Ian Charles, Professor Nicolle Packer, Emeritus Professor Ray Rose, Associate Professor Neville Firth, Dr Gyorgy Hutvagner, Associate Professor Cynthia Whitchurch, Associate Professor Robert Willows, Dr Bret Church
Scheme Linkage Infrastructure Equipment & Facilities (LIEF)
Role Lead
Funding Start 2013
Funding Finish 2013
GNo G1300668
Type Of Funding Scheme excluded from IGS
Category EXCL
UON Y

Investigation into a collaborative imaging database for NSW biobanks.$100,000

Funding body: Cancer Institute NSW

Funding body Cancer Institute NSW
Project Team Laureate Professor Rodney Scott, Conjoint Professor Stephen Ackland, Assoc. Prof Nicholas Hawkins, Associate Professor Deborah Marsh
Scheme Community of Practice Program
Role Lead
Funding Start 2013
Funding Finish 2014
GNo G1300902
Type Of Funding Other Public Sector - State
Category 2OPS
UON Y

A genome-wide study of lymphocyte-specific DNA methylation status in relation to Multiple Sclerosis$38,448

Funding body: Multiple Sclerosis Research Australia Limited

Funding body Multiple Sclerosis Research Australia Limited
Project Team Conjoint Professor Jeannette Lechner-Scott, Laureate Professor Rodney Scott, Dr Rodney Lea
Scheme Project Grant
Role Investigator
Funding Start 2013
Funding Finish 2013
GNo G1300511
Type Of Funding Aust Competitive - Non Commonwealth
Category 1NS
UON Y

The function of the delta-40p53 isoform in breast cancer.$30,000

Funding body: Hunter Medical Research Institute

Funding body Hunter Medical Research Institute
Project Team Doctor Kelly Kiejda, Miss Brianna Morten, Laureate Professor Rodney Scott
Scheme Project Grant
Role Investigator
Funding Start 2013
Funding Finish 2013
GNo G1300583
Type Of Funding Contract - Aust Non Government
Category 3AFC
UON Y

Drugs that act on the renin-angiotensin system; repositioning their therapeutic targets to endometrial cancer$20,000

Funding body: University of Newcastle

Funding body University of Newcastle
Project Team Laureate Professor Rodney Scott, Professor Eugenie Lumbers
Scheme Near Miss Grant
Role Lead
Funding Start 2013
Funding Finish 2013
GNo G1300484
Type Of Funding Internal
Category INTE
UON Y

Drugs that act on the renin-angiotensin system; respositioning their therapeutic targets to endometrial cancer$20,000

Funding body: Hunter Medical Research Institute

Funding body Hunter Medical Research Institute
Project Team Laureate Professor Rodney Scott, Professor Eugenie Lumbers
Scheme Near Miss
Role Lead
Funding Start 2013
Funding Finish 2013
GNo G1300654
Type Of Funding Grant - Aust Non Government
Category 3AFG
UON Y

The genetic determinants of brain haemorrhage associated with stroke thrombolysis$10,000

Funding body: University of Newcastle

Funding body University of Newcastle
Project Team Conjoint Professor Chris Levi, Professor John Attia, Doctor Liz Holliday, Dr Simon Koblar, Laureate Professor Rodney Scott, Conjoint Associate Professor Jonathan Sturm, Associate Professor Jonathan Rosand, Doctor Lisa Lincz, Aprof JANE Maguire
Scheme Near Miss Grant
Role Investigator
Funding Start 2013
Funding Finish 2013
GNo G1300475
Type Of Funding Internal
Category INTE
UON Y

The genetic determinants of brain haemorrhage associated with stroke thrombolysis$10,000

Funding body: Hunter Medical Research Institute

Funding body Hunter Medical Research Institute
Project Team Conjoint Professor Chris Levi, Professor John Attia, Doctor Liz Holliday, Dr Simon Koblar, Laureate Professor Rodney Scott, Conjoint Associate Professor Jonathan Sturm, Associate Professor Jonathan Rosand, Doctor Lisa Lincz, Aprof JANE Maguire
Scheme Near Miss
Role Investigator
Funding Start 2013
Funding Finish 2013
GNo G1300704
Type Of Funding Grant - Aust Non Government
Category 3AFG
UON Y

201213 grants / $1,532,230

Single Cell Genomics$200,000

Funding body: University of Newcastle

Funding body University of Newcastle
Project Team Professor Ian Paulsen, Laureate Professor Rodney Scott
Scheme Equipment Grant
Role Lead
Funding Start 2012
Funding Finish 2012
GNo G1100630
Type Of Funding Internal
Category INTE
UON Y

BD FACSAria III Cell Sorter: 3 laser 10-colour Flow Cytometer$180,000

Funding body: ARC (Australian Research Council)

Funding body ARC (Australian Research Council)
Project Team Laureate Professor Paul Foster, Conjoint Professor Peter Gibson, Laureate Professor John Aitken, Laureate Professor Roger Smith, Laureate Professor Rodney Scott
Scheme Linkage Infrastructure Equipment & Facilities (LIEF)
Role Investigator
Funding Start 2012
Funding Finish 2012
GNo G1100746
Type Of Funding Scheme excluded from IGS
Category EXCL
UON Y

Single Cell Genomics$157,548

Funding body: ARC (Australian Research Council)

Funding body ARC (Australian Research Council)
Project Team Professor Ian Paulsen, Professor Marc Wilkins, Professor Nicolle Packer, Professor Claire Wade, Professor Peter Waterhouse, Laureate Professor Rodney Scott, Professor Ian Dawes, Professor Rick Cavicchioli, Associate Professor Robert Willows, Associate Professor Cynthia Whitchurch, Professor Ian Charles, Professor Hatch Stokes, Professor Michael Gillings, Dr Dayong Jin, Associate Professor Neville Firth
Scheme Linkage Infrastructure Equipment & Facilities (LIEF)
Role Lead
Funding Start 2012
Funding Finish 2012
GNo G1200066
Type Of Funding Scheme excluded from IGS
Category EXCL
UON Y

BD FACSAria III Cell Sorter: 3 laser 10-colour Flow Cytometer$150,000

Funding body: University of Newcastle

Funding body University of Newcastle
Project Team Laureate Professor Paul Foster, Professor Trevor Day, Conjoint Professor Peter Gibson, Laureate Professor John Aitken, Laureate Professor Roger Smith, Laureate Professor Rodney Scott
Scheme Equipment Grant
Role Investigator
Funding Start 2012
Funding Finish 2012
GNo G1100744
Type Of Funding Internal
Category INTE
UON Y

BD FACSAria III Cell Sorter: 3 laser 10-colour Flow Cytometer$122,927

Funding body: Hunter Medical Research Institute

Funding body Hunter Medical Research Institute
Project Team Laureate Professor Paul Foster, Conjoint Professor Peter Gibson, Laureate Professor John Aitken, Laureate Professor Roger Smith, Laureate Professor Rodney Scott
Scheme Project Grant
Role Investigator
Funding Start 2012
Funding Finish 2012
GNo G1200668
Type Of Funding Grant - Aust Non Government
Category 3AFG
UON Y

HMRI MRSP Infrastructure (11-12)- IBM$114,455

Funding body: Hunter Medical Research Institute

Funding body Hunter Medical Research Institute
Project Team Professor Pablo Moscato, Laureate Professor Rodney Scott
Scheme NSW MRSP Infrastructure Grant
Role Investigator
Funding Start 2012
Funding Finish 2012
GNo G1101138
Type Of Funding Other Public Sector - State
Category 2OPS
UON Y

Small p53 isoforms, BIG implications for treatment response in breast cancer$90,000

Funding body: Hunter Medical Research Institute

Funding body Hunter Medical Research Institute
Project Team Doctor Kelly Kiejda, Laureate Professor Rodney Scott
Scheme Project Grant
Role Investigator
Funding Start 2012
Funding Finish 2015
GNo G1200322
Type Of Funding Grant - Aust Non Government
Category 3AFG
UON Y

p53 isoforms in breast cancer - MM Sawyer Estate Scholarship$85,000

Funding body: Hunter Medical Research Institute

Funding body Hunter Medical Research Institute
Project Team Doctor Kelly Kiejda, Laureate Professor Rodney Scott
Scheme Mary Minto Sawyer Grant
Role Investigator
Funding Start 2012
Funding Finish 2014
GNo G1200615
Type Of Funding Grant - Aust Non Government
Category 3AFG
UON Y

Technical officer to support the Australian Schizophrenia Research Bank (ASRB)$70,000

Funding body: Schizophrenia Research Institute

Funding body Schizophrenia Research Institute
Project Team Laureate Professor Rodney Scott, Doctor Carmel Loughland
Scheme Research Grant
Role Lead
Funding Start 2012
Funding Finish 2013
GNo G1200834
Type Of Funding Grant - Aust Non Government
Category 3AFG
UON Y

Development of a diagnostic genetic test for childhood skin cancer disorders$40,000

Funding body: Hunter Medical Research Institute

Funding body Hunter Medical Research Institute
Project Team Doctor Nikola Bowden, Laureate Professor Rodney Scott
Scheme Research Grant
Role Investigator
Funding Start 2012
Funding Finish 2012
GNo G1200164
Type Of Funding Contract - Aust Non Government
Category 3AFC
UON Y

The genetic determinants of brain haemorrhage associated with stroke thrombolysis$20,000

Funding body: University of Newcastle

Funding body University of Newcastle
Project Team Conjoint Professor Chris Levi, Professor John Attia, Doctor Liz Holliday, Laureate Professor Rodney Scott, Conjoint Associate Professor Jonathan Sturm, Doctor Lisa Lincz
Scheme Near Miss Grant
Role Investigator
Funding Start 2012
Funding Finish 2012
GNo G1200675
Type Of Funding Internal
Category INTE
UON Y

Revealing cancer complexity - identification of Lynch syndrome cases$10,000

Funding body: University of Newcastle

Funding body University of Newcastle
Project Team Doctor Bente Talseth-Palmer, Laureate Professor Rodney Scott, Doctor Liz Holliday
Scheme Early Career Researcher Grant
Role Investigator
Funding Start 2012
Funding Finish 2012
GNo G1200519
Type Of Funding Internal
Category INTE
UON Y

20118 grants / $2,124,470

Hunter Translational Cancer Research Unit$1,693,333

Funding body: Cancer Institute NSW

Funding body Cancer Institute NSW
Project Team Conjoint Professor Stephen Ackland, Emeritus Professor Leonie Ashman, Professor John Forbes, Laureate Professor Robert Sanson-Fisher, Conjoint Associate Professor Anthony Proietto, Laureate Professor Rodney Scott
Scheme Translational Cancer Research Unit
Role Investigator
Funding Start 2011
Funding Finish 2014
GNo G1100545
Type Of Funding Other Public Sector - State
Category 2OPS
UON Y

HMRI MRSP Infrastructure Grant (10-11) - IBM$115,480

Funding body: NSW Office for Science & Medical Research

Funding body NSW Office for Science & Medical Research
Project Team Laureate Professor Rodney Scott, Professor Pablo Moscato
Scheme Medical Research Support Program
Role Lead
Funding Start 2011
Funding Finish 2011
GNo G1001066
Type Of Funding Other Public Sector - State
Category 2OPS
UON Y

Research microscope, confocal ready nikon eclipse 90i microscope$69,157

Funding body: NHMRC (National Health & Medical Research Council)

Funding body NHMRC (National Health & Medical Research Council)
Project Team Laureate Professor Roger Smith, Conjoint Professor Tamas Zakar, Professor Jon Hirst, Doctor Kaushik Maiti, Doctor Gemma Madsen, Laureate Professor Rodney Scott, Conjoint Professor Peter Wark, Laureate Professor Paul Foster, Professor Phil Hansbro, Conjoint Professor Ian Wright
Scheme Equipment Grant
Role Investigator
Funding Start 2011
Funding Finish 2011
GNo G1100024
Type Of Funding Other Public Sector - Commonwealth
Category 2OPC
UON Y

MicroRNA in Multiple Sclerosis$60,000

Funding body: Hunter Medical Research Institute

Funding body Hunter Medical Research Institute
Project Team Conjoint Professor Jeannette Lechner-Scott, Laureate Professor Rodney Scott
Scheme Project Grant
Role Investigator
Funding Start 2011
Funding Finish 2014
GNo G1100271
Type Of Funding Grant - Aust Non Government
Category 3AFG
UON Y

Elucidating genetic predispositions to Hereditary Non - Polyposis Colorectal Cancer (HNPCC)$55,500

Funding body: Australian Rotary Health

Funding body Australian Rotary Health
Project Team Laureate Professor Rodney Scott
Scheme Bowel Cancer Scholarship
Role Lead
Funding Start 2011
Funding Finish 2015
GNo G1100015
Type Of Funding Grant - Aust Non Government
Category 3AFG
UON Y

Clinical know-how concerning risk profiling and patient aquisition$51,000

Funding body: CSIRO - Commonwealth Scientific and Industrial Research Organisation

Funding body CSIRO - Commonwealth Scientific and Industrial Research Organisation
Project Team Laureate Professor Rodney Scott
Scheme Collaborative Relationship Agreement
Role Lead
Funding Start 2011
Funding Finish 2013
GNo G1100468
Type Of Funding Other Public Sector - Commonwealth
Category 2OPC
UON Y

p53 isoforms, a prognostic indicator in breast cancer?$45,000

Funding body: Hunter Medical Research Institute

Funding body Hunter Medical Research Institute
Project Team Doctor Kelly Kiejda, Laureate Professor Rodney Scott, Professor John Forbes
Scheme Breast Cancer Project Grant
Role Investigator
Funding Start 2011
Funding Finish 2011
GNo G1001006
Type Of Funding Contract - Aust Non Government
Category 3AFC
UON Y

Nucleotide excision repair gene expression in melanoma$35,000

Funding body: Hunter Medical Research Institute

Funding body Hunter Medical Research Institute
Project Team Doctor Nikola Bowden, Doctor Katie Ashton, Doctor Stephen Braye, Laureate Professor Rodney Scott, Dr Ricardo Vilain
Scheme Project Grant
Role Investigator
Funding Start 2011
Funding Finish 2011
GNo G1001057
Type Of Funding Contract - Aust Non Government
Category 3AFC
UON Y

20109 grants / $1,199,702

Molecular and cellular characterisation of schizophrenia associated dysfunction in microRNA biogenesis$478,500

Funding body: NHMRC (National Health & Medical Research Council)

Funding body NHMRC (National Health & Medical Research Council)
Project Team Professor Murray Cairns, Laureate Professor Rodney Scott, Associate Professor Paul Tooney, Emeritus Professor John Rostas, Professor Alan Brichta
Scheme Project Grant
Role Investigator
Funding Start 2010
Funding Finish 2012
GNo G0190196
Type Of Funding Aust Competitive - Commonwealth
Category 1CS
UON Y

Systems Biology: Sequencing to functional analysis$370,000

Funding body: ARC (Australian Research Council)

Funding body ARC (Australian Research Council)
Project Team Laureate Professor Rodney Scott, Professor Ronald Trent
Scheme Linkage Infrastructure Equipment & Facilities (LIEF)
Role Lead
Funding Start 2010
Funding Finish 2010
GNo G1000591
Type Of Funding Scheme excluded from IGS
Category EXCL
UON Y

Genome wide copy number variant (CNV) analysis to discover novel genetic and epigenetic regulators of heritable and sporadic colorectal cancer$120,000

Funding body: CSIRO - Commonwealth Scientific and Industrial Research Organisation

Funding body CSIRO - Commonwealth Scientific and Industrial Research Organisation
Project Team Laureate Professor Rodney Scott
Scheme National Research Flagship Project
Role Lead
Funding Start 2010
Funding Finish 2014
GNo G1000067
Type Of Funding Other Public Sector - Commonwealth
Category 2OPC
UON Y

HMRI MRSP Infrastructure Grant 09/10 - IBM$94,604

Funding body: Hunter Medical Research Institute

Funding body Hunter Medical Research Institute
Project Team Laureate Professor Rodney Scott, Professor Pablo Moscato
Scheme NSW MRSP Infrastructure Grant
Role Lead
Funding Start 2010
Funding Finish 2010
GNo G1000560
Type Of Funding Contract - Aust Non Government
Category 3AFC
UON Y

Schizophrenia research Institute Robotics Equipment Grant$50,000

Funding body: Schizophrenia Research Institute

Funding body Schizophrenia Research Institute
Project Team Laureate Professor Rodney Scott
Scheme Equipment Grant
Role Lead
Funding Start 2010
Funding Finish 2010
GNo G1000417
Type Of Funding Grant - Aust Non Government
Category 3AFG
UON Y

Epigenetic regulation of the CRH gene in gestational tissues$30,000

Funding body: BellBerry Limited

Funding body BellBerry Limited
Project Team Laureate Professor Roger Smith, Laureate Professor Rodney Scott, Conjoint Associate Professor Rick Nicholson, Conjoint Professor Tamas Zakar
Scheme Near Miss
Role Investigator
Funding Start 2010
Funding Finish 2012
GNo G0900225
Type Of Funding Grant - Aust Non Government
Category 3AFG
UON Y

Analysis of schizophrenia-associated gene and mircoRNA signatures in purified CD4 and CD8 positive T-cells$25,000

Funding body: Hunter Children`s Research Foundation

Funding body Hunter Children`s Research Foundation
Project Team Professor Murray Cairns, Doctor Jing Qin Wu, Associate Professor Paul Tooney, Laureate Professor Rodney Scott
Scheme Research Grant
Role Investigator
Funding Start 2010
Funding Finish 2010
GNo G0900188
Type Of Funding Contract - Aust Non Government
Category 3AFC
UON Y

The identification of microRNA's as therapeutic targets for the treatment of advanced breast cancer$21,600

Funding body: Hunter Medical Research Institute

Funding body Hunter Medical Research Institute
Project Team Doctor Kelly Kiejda, Laureate Professor Rodney Scott, Professor John Forbes
Scheme Research Grant
Role Investigator
Funding Start 2010
Funding Finish 2010
GNo G0900144
Type Of Funding Contract - Aust Non Government
Category 3AFC
UON Y

Genetic influences in colorectal cancer: a global consortium$9,998

Funding body: Hunter Children`s Research Foundation

Funding body Hunter Children`s Research Foundation
Project Team Laureate Professor Rodney Scott, Professor John Attia, Associate Professor Mark McEvoy
Scheme Research Grant
Role Lead
Funding Start 2010
Funding Finish 2010
GNo G0900152
Type Of Funding Grant - Aust Non Government
Category 3AFG
UON Y

200913 grants / $2,343,376

Australian stroke genetics collaborative - Genome-wide association study in ischaemic stroke$1,108,000

Funding body: NHMRC (National Health & Medical Research Council)

Funding body NHMRC (National Health & Medical Research Council)
Project Team Conjoint Professor Chris Levi, Conjoint Associate Professor Jonathan Sturm, Professor John Attia, Laureate Professor Rodney Scott, Doctor Lisa Lincz, Dr Simon Koblar, Professor Pablo Moscato
Scheme Project Grant
Role Investigator
Funding Start 2009
Funding Finish 2011
GNo G0188856
Type Of Funding Aust Competitive - Commonwealth
Category 1CS
UON Y

Mass array technology for the identification of genetic variation associated with cancer initiation and progression$260,000

Funding body: Cancer Institute NSW

Funding body Cancer Institute NSW
Project Team Laureate Professor Rodney Scott, Professor Ronald Trent, Professor Ian Dawes
Scheme Research Equipment Grant
Role Lead
Funding Start 2009
Funding Finish 2009
GNo G0189642
Type Of Funding Contract - Aust Non Government
Category 3AFC
UON Y

Genome wide SNP associated study of childhood acute lymphoblastic leukaemia$140,000

Funding body: Hunter Medical Research Institute

Funding body Hunter Medical Research Institute
Project Team Laureate Professor Rodney Scott, Doctor Nikola Bowden, Doctor Bente Talseth-Palmer
Scheme Paediatric Oncology Project Grant
Role Lead
Funding Start 2009
Funding Finish 2010
GNo G0189790
Type Of Funding Grant - Aust Non Government
Category 3AFG
UON Y

Study of c-Kit mutations in Familial Gastrointestinal Stromal Tumours, Melanoma and novel form of Waadenburg Syndrome$65,256

Funding body: NHMRC (National Health & Medical Research Council)

Funding body NHMRC (National Health & Medical Research Council)
Project Team Mr Ricardo Vilain, Laureate Professor Rodney Scott
Scheme Scholarships - Medical and Dental Postgraduate Research
Role Investigator
Funding Start 2009
Funding Finish 2010
GNo G0189436
Type Of Funding Other Public Sector - Commonwealth
Category 2OPC
UON Y

Search for modifier genes influencing breast cancer incidence in families diagnosed with hereditary nonpolyposis colorectal cancer$60,000

Funding body: Hunter Medical Research Institute

Funding body Hunter Medical Research Institute
Project Team Doctor Bente Talseth-Palmer, Laureate Professor Rodney Scott
Scheme Breast Cancer Project Grant
Role Investigator
Funding Start 2009
Funding Finish 2009
GNo G0189856
Type Of Funding Contract - Aust Non Government
Category 3AFC
UON Y

Gene expression profiling of Xeroderma pigmentosum$45,000

Funding body: Hunter Medical Research Institute

Funding body Hunter Medical Research Institute
Project Team Laureate Professor Rodney Scott, Doctor Nikola Bowden, Doctor Katie Ashton
Scheme Postdoctoral Fellowship
Role Lead
Funding Start 2009
Funding Finish 2010
GNo G0900194
Type Of Funding Donation - Aust Non Government
Category 3AFD
UON Y

Study of c-KIT mutations in familial gastrointestinal stromal tumours and malignant melanoma$44,720

Funding body: Pfizer Australia

Funding body Pfizer Australia
Project Team Mr Ricardo Vilain, Laureate Professor Rodney Scott, Emeritus Professor Leonie Ashman
Scheme Cancer Research Grant
Role Investigator
Funding Start 2009
Funding Finish 2009
GNo G0189919
Type Of Funding Aust Competitive - Non Commonwealth
Category 1NS
UON Y

Identification of genetic modifiers of kidney disease$25,000

Funding body: Hunter Medical Research Institute

Funding body Hunter Medical Research Institute
Project Team Doctor Severine Roselli, Emeritus Professor Leonie Ashman, Laureate Professor Rodney Scott
Scheme Project Grant
Role Investigator
Funding Start 2009
Funding Finish 2009
GNo G0189793
Type Of Funding Contract - Aust Non Government
Category 3AFC
UON Y

First Australian Workshop on Bioinformatics for Biomarker Discovery$25,000

Funding body: University of Newcastle

Funding body University of Newcastle
Project Team Professor Pablo Moscato, Laureate Professor Rodney Scott
Scheme Special Project Grant
Role Investigator
Funding Start 2009
Funding Finish 2009
GNo G0190622
Type Of Funding Internal
Category INTE
UON Y

Sparke Helmore/NBN Television Corporate Triathlon Award for Research Excellence$15,000

Funding body: Hunter Medical Research Institute

Funding body Hunter Medical Research Institute
Project Team Laureate Professor Rodney Scott
Scheme Sparke Helmore/NBN Television Corporate Triathlon Award for Research Excellence
Role Lead
Funding Start 2009
Funding Finish 2009
GNo G0190649
Type Of Funding Contract - Aust Non Government
Category 3AFC
UON Y

Vascular Ischaemia Study$10,400

Funding body: Hunter Medical Research Institute

Funding body Hunter Medical Research Institute
Project Team Conjoint Professor Chris Levi, Professor John Attia, Laureate Professor Rodney Scott, Doctor Michael Seldon, Doctor Lisa Lincz, Conjoint Associate Professor Jonathan Sturm
Scheme Research Grant
Role Investigator
Funding Start 2009
Funding Finish 2009
GNo G0900120
Type Of Funding Contract - Aust Non Government
Category 3AFC
UON Y

200811 grants / $4,128,211

Neuro-behavioural genetics network research program$2,400,000

Funding body: NSW Ministry of Health

Funding body NSW Ministry of Health
Project Team Conjoint Professor Vaughan Carr, Laureate Professor Rodney Scott, Associate Professor Paul Tooney, Professor Brian Kelly, Professor Murray Cairns
Scheme Project Grant
Role Investigator
Funding Start 2008
Funding Finish 2010
GNo G0189170
Type Of Funding Other Public Sector - State
Category 2OPS
UON Y

Novel strategies for prediction and control of advanced breast cancer via nanoscaled epigenetic-based biosensors$1,200,000

Funding body: National Breast Cancer Foundation

Funding body National Breast Cancer Foundation
Project Team Professor John Forbes, Laureate Professor Rodney Scott, Professor Matt Trau, Assoc. Prof Susan Clark, Dr Melissa Brown, Assoc. Prof Glenn Francis, Professor Alexander Dobrovic
Scheme Collaborative Breast Cancer Research Grant Program
Role Investigator
Funding Start 2008
Funding Finish 2012
GNo G0188685
Type Of Funding Aust Competitive - Non Commonwealth
Category 1NS
UON Y

HMRI Senior Research Fellow$160,000

Funding body: Hunter Medical Research Institute

Funding body Hunter Medical Research Institute
Project Team Professor John Attia, Emeritus Professor Maree Gleeson, Laureate Professor Rodney Scott, Conjoint Professor Vaughan Carr, Conjoint Professor Stephen Ackland, Professor Michael Hazelton, Professor Trevor Day
Scheme Senior Fellowship
Role Investigator
Funding Start 2008
Funding Finish 2009
GNo G0188558
Type Of Funding Contract - Aust Non Government
Category 3AFC
UON Y

Gene expression profiling of xeroderma pigmentosum$100,000

Funding body: Hunter Medical Research Institute

Funding body Hunter Medical Research Institute
Project Team Laureate Professor Rodney Scott, Doctor Nikola Bowden
Scheme Postdoctoral Fellowship
Role Lead
Funding Start 2008
Funding Finish 2008
GNo G0188353
Type Of Funding Donation - Aust Non Government
Category 3AFD
UON Y

Advanced high throughput functional genomics and gene mapping$88,211

Funding body: ARC (Australian Research Council)

Funding body ARC (Australian Research Council)
Project Team Laureate Professor Rodney Scott
Scheme Linkage Infrastructure Equipment & Facilities (LIEF)
Role Lead
Funding Start 2008
Funding Finish 2008
GNo G0189043
Type Of Funding Scheme excluded from IGS
Category EXCL
UON Y

The complex genetics of multiple sclerosis$75,000

Funding body: Hunter Medical Research Institute

Funding body Hunter Medical Research Institute
Project Team Laureate Professor Rodney Scott, Conjoint Professor Jeannette Lechner-Scott
Scheme Macquarie Group Foundation PhD Scholarship in Information Based Medicine
Role Lead
Funding Start 2008
Funding Finish 2010
GNo G0189689
Type Of Funding Contract - Aust Non Government
Category 3AFC
UON Y

The effects of iron status on calcium handling systems in heart and brain$25,000

Funding body: Hunter Medical Research Institute

Funding body Hunter Medical Research Institute
Project Team Professor Derek Laver, Associate Professor Liz Milward, Professor Dirk Van Helden, Laureate Professor Rodney Scott
Scheme Project Grant
Role Investigator
Funding Start 2008
Funding Finish 2008
GNo G0188463
Type Of Funding Contract - Aust Non Government
Category 3AFC
UON Y

Brain Science and Young People's Mental Health: A gene expression study in young people at ultra high risk of developing schizophrenia$25,000

Funding body: Hunter Medical Research Institute

Funding body Hunter Medical Research Institute
Project Team Associate Professor Paul Tooney, Emeritus Professor Patricia Michie, Professor Ulli Schall, Laureate Professor Rodney Scott, Associate Professor Helen Stain, Dr REBBEKAH Atkinson
Scheme Project Grant
Role Investigator
Funding Start 2008
Funding Finish 2008
GNo G0188475
Type Of Funding Contract - Aust Non Government
Category 3AFC
UON Y

Identification of novel markers in paediatric acute lymphoblastic leukaemia; investigation of DNA methylations and non-coding small microRNAs $20,000

Funding body: Hunter Medical Research Institute

Funding body Hunter Medical Research Institute
Project Team Doctor Kyu-Tae Kim, Laureate Professor Rodney Scott
Scheme Paediatric Oncology Project Grant
Role Investigator
Funding Start 2008
Funding Finish 2008
GNo G0188477
Type Of Funding Grant - Aust Non Government
Category 3AFG
UON Y

Genome wide SNP association study of childhood acute lymphoblastic leukaemia$20,000

Funding body: Hunter Children`s Research Foundation

Funding body Hunter Children`s Research Foundation
Project Team Doctor Nikola Bowden, Laureate Professor Rodney Scott, Doctor Bente Talseth-Palmer
Scheme Paediatric Oncology Project Grant
Role Investigator
Funding Start 2008
Funding Finish 2008
GNo G0188483
Type Of Funding Contract - Aust Non Government
Category 3AFC
UON Y

PULSE Research Exchange$15,000

Funding body: Hunter Medical Research Institute

Funding body Hunter Medical Research Institute
Project Team Conjoint Professor Jeannette Lechner-Scott, Laureate Professor Rodney Scott
Scheme PULSE Research Exchange
Role Investigator
Funding Start 2008
Funding Finish 2008
GNo G0188563
Type Of Funding Contract - Aust Non Government
Category 3AFC
UON Y

20076 grants / $917,057

HMRI Emerging Research program - Information based medicine$624,044

Funding body: Hunter Medical Research Institute

Funding body Hunter Medical Research Institute
Project Team Laureate Professor Rodney Scott, Professor Pablo Moscato
Scheme NSW MRSP Infrastructure Grant
Role Lead
Funding Start 2007
Funding Finish 2009
GNo G0187945
Type Of Funding Other Public Sector - State
Category 2OPS
UON Y

Application of novel exact combinatorial optimisation techniques and metaheuristic methods for problems in cancer research$238,291

Funding body: ARC (Australian Research Council)

Funding body ARC (Australian Research Council)
Project Team Professor Pablo Moscato, Laureate Professor Rodney Scott, Dr Michael Langston
Scheme Discovery Projects
Role Investigator
Funding Start 2007
Funding Finish 2009
GNo G0186327
Type Of Funding Aust Competitive - Commonwealth
Category 1CS
UON Y

(8) PRC - Priority Research Centre for Bioinformatics, Biomarker Discovery & Information-Based Medicine (CIBM)$21,532

Funding body: University of Newcastle

Funding body University of Newcastle
Project Team Laureate Professor Rodney Scott, Professor Pablo Moscato
Scheme Publication Performance Grant
Role Lead
Funding Start 2007
Funding Finish 2007
GNo G0187968
Type Of Funding Internal
Category INTE
UON Y

Gene expression profiling of xeroderma pigmentosum$20,000

Funding body: Hunter Medical Research Institute

Funding body Hunter Medical Research Institute
Project Team Doctor Nikola Bowden, Laureate Professor Rodney Scott
Scheme Project Grant
Role Investigator
Funding Start 2007
Funding Finish 2007
GNo G0187261
Type Of Funding Contract - Aust Non Government
Category 3AFC
UON Y

Microarray analyses of genes important in iron regulation and related disorders$8,190

Funding body: University of Newcastle

Funding body University of Newcastle
Project Team Associate Professor Liz Milward, Laureate Professor Rodney Scott
Scheme Pilot Grant
Role Investigator
Funding Start 2007
Funding Finish 2007
GNo G0187902
Type Of Funding Internal
Category INTE
UON Y

Genetic polymorphisms in the native thrombolytic systems as risk factors for ischaemic stroke.$5,000

Funding body: Hunter Medical Research Institute

Funding body Hunter Medical Research Institute
Project Team Conjoint Professor Chris Levi, Professor John Attia, Laureate Professor Rodney Scott, Dr Amanda Thrift
Scheme Research Grant
Role Investigator
Funding Start 2007
Funding Finish 2007
GNo G0187320
Type Of Funding Contract - Aust Non Government
Category 3AFC
UON Y

200610 grants / $2,417,275

Advanced technology for transcriptomics, genomics and gene mapping$850,000

Funding body: ARC (Australian Research Council)

Funding body ARC (Australian Research Council)
Project Team Laureate Professor Rodney Scott, Professor Ian Dawes, Professor Ronald Trent, Professor Nicholas Hunt, Emeritus Professor Peter Bergquist, Professor Mark Baker, Emeritus Professor Peter Dunkley, Dr Ruby Lin, Conjoint Professor Peter Gibson, Professor Alistair Sim
Scheme Linkage Infra