Professor Rodney Scott

Professor Rodney Scott

Professor

School of Biomedical Sciences and Pharmacy (Medical Genetics)

Mining your genes

A successful collaboration between two internationally renowned researchers is using medical science and computer analysis to unlock the mysteries of cancer and other diseases.

Professors Rodney Scott and Pablo Moscato posing for the camera 

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.Professor Rodney Scott speaks to a colleague in the laboratory

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.

Visit the Centre for Bioinformatics, Biomarker Discovery and Information-Based Medicine website

Visit the HMRI website

Professor 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.

Read more

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

Professional Experience

Academic appointment

Dates Title Organisation / Department
1/06/2005 -  Member gene technology technical advisory committee Gene Technology Regulator, Federal Government
Australia
1/06/2005 -  Scientific Advisor Cancer Institute NSW
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.
Edit

Publications

For publications that are currently unpublished or in-press, details are shown in italics.


Chapter (6 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', , Humana Press Inc. (2015)

We propose here a methodology to uncover modularities in the network of SNP¿SNP interactions most associated with disease. We start by computing all possible Boolean binary SNP i... [more]

We propose here a methodology to uncover modularities in the network of SNP¿SNP interactions most associated with disease. We start by computing all possible Boolean binary SNP interactions across the whole genome. By constructing a weighted graph of the most relevant interactions and via a combinatorial optimization approach, we fnd the most highly interconnected SNPs. We show that the method can be easily extended to fnd SNP/environment interactions. Using a modestly sized GWAS dataset of age-related macular degeneration (AMD), we identify a group of only 19 SNPs, which include those in previously reported regions associated to AMD. We also uncover a larger set of loci pointing to a matrix of key processes and functions that are affected. The proposed integrative methodology extends and overlaps traditional statistical analysis in a natural way. Combinatorial optimization techniques allow us to fnd the kernel of the most central interactions, complementing current methods of GWAS analysis and also enhancing the search for gene¿environment interaction.

DOI 10.1007/978-1-4939-2155-3_12
Co-authors Liz Holliday, Christopher Oldmeadow, John Attia, Pablo Moscato
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)
DOI 10.1007/978-1-4939-2155-3_12
Co-authors Christopher Oldmeadow, John Attia, Pablo Moscato, 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 - 13
Co-authors Alexandre Mendes, Pablo Moscato
Show 3 more chapters

Journal article (367 outputs)

Year Citation Altmetrics Link
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)

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 indiv... [more]

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
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)

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 ... [more]

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
Co-authors Maree Gleeson, Sharron Hall
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)

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. ... [more]

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
Co-authors John Attia
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)

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... [more]

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 - 1Web of Science - 1
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)

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 ... [more]

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
Co-authors Michelle Wong-Brown
2015 Sapkota Y, Low S-K, Attia J, Gordon SD, Henders AK, Holliday EG, et al., 'Association between endometriosis and the interleukin 1A (ILIA) locus', HUMAN REPRODUCTION, 30 239-248 (2015)
DOI 10.1093/humrep/deu267
Citations Scopus - 2Web of Science - 2
Co-authors Liz Holliday, John Attia
2015 Paszkowska-Szczur K, Scott RJ, Gorski 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)
DOI 10.1007/s11033-014-3824-z
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)

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 b... [more]

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
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)

Several studies have reported associations between multiple cancer types and single-nucleotide polymorphisms (SNPs) on chromosome 5p15, which harbours TERT and CLPTM1L, but no suc... [more]

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
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)

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 i... [more]

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
Co-authors Christopher Oldmeadow, Liz Holliday, John Attia, Roseanne Peel
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, (2015)

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. ... [more]

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
Co-authors John Attia
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)

Background: Several studies suggest that maternal folic acid supplementation before or during pregnancy protects against childhood acute lymphoblastic leukemia (ALL). We investiga... [more]

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 - 1
Co-authors John Attia
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.', Biol Psychiatry, (2015)
DOI 10.1016/j.biopsych.2015.01.003
Co-authors Liz Holliday, John Attia
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
Co-authors John Attia, Liz Holliday, Katie Ashton
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=53949).', Mol Psychiatry, 20 183-192 (2015)
DOI 10.1038/mp.2014.188
Citations Scopus - 4Web of Science - 4
Co-authors Christopher Oldmeadow, John Attia, Liz Holliday, Peter Schofield
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.', Nat Commun, 6 5899 (2015)
DOI 10.1038/ncomms6899
Co-authors Kelly Kiejda, John Forbes
2015 Holliday EG, Traylor M, Malik R, Bevan S, Falcone G, Hopewell JC, et al., 'Genetic overlap between diagnostic subtypes of ischemic stroke.', Stroke, 46 615-619 (2015)
DOI 10.1161/STROKEAHA.114.007930
Co-authors Liz Holliday, Christopher Oldmeadow, Lisa Lincz, John Attia, Jane Maguire, Chris Levi
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)

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 pol... [more]

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
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)
DOI 10.1186/s13053-015-0025-2
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)

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 b... [more]

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 - 1
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)

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 coul... [more]

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 - 4Web of Science - 1
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)

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 revie... [more]

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 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, (2015)

Infiltration of the tumor microenvironment by nerve fibers is an understudied aspect of breast carcinogenesis. In this study, the presence of nerve fibers was investigated in a co... [more]

Infiltration of the tumor microenvironment by nerve fibers is an understudied aspect of breast carcinogenesis. In this study, the presence of nerve fibers was investigated in a cohort of 369 primary breast cancers (ductal carcinomas in situ, invasive ductal and lobular carcinomas) by immunohistochemistry for the neuronal marker PGP9.5. Isolated nerve fibers (axons) were detected in 28% of invasive ductal carcinomas as compared to only 12% of invasive lobular carcinomas and 8% of ductal carcinomas in situ (p=0.0003). In invasive breast cancers, the presence of nerve fibers was observed in 15% of lymph node negative tumors and 28% of lymph node positive tumors (p=0.0031), indicating a relationship with the metastatic potential. In addition, there was an association between the presence of nerve fibers and the expression of nerve growth factor (NGF) in cancer cells (p=0.0001). Invitro, breast cancer cells were able to induce neurite outgrowth in PC12 cells, and this neurotrophic activity was partially inhibited by anti-NGF blocking antibodies. In conclusion, infiltration by nerve fibers is a feature of the tumor microenvironment that is associated with aggressiveness and involves NGF production by cancer cells. The potential participation of nerve fibers in breast cancer progression needs to be further considered.

DOI 10.1016/j.molonc.2015.05.001
Co-authors Marjorie Walker, John Attia, Hubert Hondermarck, Rick Thorne, John Forbes, Phillip Jobling
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 Epidemiol Biomarkers Prev, 24 931-937 (2015)
DOI 10.1158/1055-9965.EPI-14-1248
Co-authors John Attia
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)

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
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]

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 bey... [more]

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
Co-authors Katherine Baines, Nikola Bowden, Katie Ashton
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)
DOI 10.1155/2015/204089
Citations Scopus - 1
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)

In 2011, Watson and Barnes proposed a schema for classifying biobanks into 3 groups (mono-, oligo-, and poly-user), primarily based upon biospecimen access policies. We used resul... [more]

In 2011, Watson and Barnes proposed a schema for classifying biobanks into 3 groups (mono-, oligo-, and poly-user), primarily based upon biospecimen access policies. We used results from a recent comprehensive survey of cancer biobanks in New South Wales, Australia to assess the applicability of this biobank classification schema in an Australian setting. Cancer biobanks were identified using publically available data, and by consulting with research managers. A comprehensive survey was developed and administered through a face-to-face setting. Data were analyzed using Microsoft Excel¿ 2010 and IBM SPSS Statistics¿ version 21.0. The cancer biobank cohort (n=23) represented 5 mono-user biobanks, 7 oligo-user biobanks, and 11 poly-user biobanks, and was analyzed as two groups (mono-/oligo- versus poly-user biobanks). Poly-user biobanks employed significantly more full-time equivalent staff, and were significantly more likely to have a website, share staff between biobanks, access governance support, utilize quality control measures, be aware of biobanking best practice documents, and offer staff training. Mono-/oligo-user biobanks were significantly more likely to seek advice from other biobanks. Our results further delineate a biobank classification system that is primarily based on access policy, and demonstrate its relevance in an Australian setting.

DOI 10.1089/bio.2015.0007
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', Methods in molecular biology (Clifton, N.J.), 1253 217-255 (2015)

We propose here a methodology to uncover modularities in the network of SNP-SNP interactions most associated with disease. We start by computing all possible Boolean binary SNP in... [more]

We propose here a methodology to uncover modularities in the network of SNP-SNP interactions most associated with disease. We start by computing all possible Boolean binary SNP interactions across the whole genome. By constructing a weighted graph of the most relevant interactions and via a combinatorial optimization approach, we find the most highly interconnected SNPs. We show that the method can be easily extended to find SNP/environment interactions. Using a modestly sized GWAS dataset of age-related macular degeneration (AMD), we identify a group of only 19 SNPs, which include those in previously reported regions associated to AMD. We also uncover a larger set of loci pointing to a matrix of key processes and functions that are affected. The proposed integrative methodology extends and overlaps traditional statistical analysis in a natural way. Combinatorial optimization techniques allow us to find the kernel of the most central interactions, complementing current methods of GWAS analysis and also enhancing the search for gene-environment interaction.

DOI 10.1007/978-1-4939-2155-3_12
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)

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 ... [more]

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
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-¿.', Front Immunol, 6 107 (2015)
DOI 10.3389/fimmu.2015.00107
Citations Scopus - 1Web of Science - 1
Co-authors Sharron Hall, Maree Gleeson
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)

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 in... [more]

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
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, 97 22-34 (2015)

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
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)

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 geno... [more]

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
Co-authors John Attia
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 Immun, 21 523-530 (2015)
DOI 10.1177/1753425914553645
Citations Scopus - 1Web of Science - 1
Co-authors Sharron Hall
2014 Oldmeadow C, Mossman D, Evans TJ, 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 - 1Web of Science - 1
Co-authors Liz Holliday, Murray Cairns, Paul Tooney, Christopher Oldmeadow, John Attia
2014 Springelkamp H, Höhn R, Mishra A, Hysi PG, Khor C-C, 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]

Glaucoma is characterized by irreversible optic nerve degeneration and is the most frequent cause of irreversible blindness worldwide. Here, the International Glaucoma Genetics Co... [more]

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 - 10
Co-authors Liz Holliday, John Attia
2014 Evans TJ, 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 - 1Web of Science - 1
Co-authors Nikola Bowden, John Attia, 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 - 7Web of Science - 4
Co-authors Kelly Kiejda, John Forbes
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, 1-16 (2014) [C1]

Introduction: The distribution of histopathological features of invasive breast tumors in BRCA1 or BRCA2 germline mutation carriers differs from that of individuals with no known ... [more]

Introduction: The distribution of histopathological features of invasive breast tumors in BRCA1 or BRCA2 germline mutation carriers differs from that of individuals with no known mutation. Histopathological features thus have utility for mutation prediction, including statistical modeling to assess pathogenicity of BRCA1 or BRCA2 variants of uncertain clinical significance. We analyzed large pathology datasets accrued by the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) and the Breast Cancer Association Consortium (BCAC) to reassess histopathological predictors of BRCA1 and BRCA2 mutation status, and provide robust likelihood ratio (LR) estimates for statistical modeling. Methods: Selection criteria for study/center inclusion were estrogen receptor (ER) status or grade data available for invasive breast cancer diagnosed younger than 70 years. The dataset included 4,477 BRCA1 mutation carriers, 2,565 BRCA2 mutation carriers, and 47,565 BCAC breast cancer cases. Country-stratified estimates of the likelihood of mutation status by histopathological markers were derived using a Mantel-Haenszel approach. Results: ER-positive phenotype negatively predicted BRCA1 mutation status, irrespective of grade (LRs from 0.08 to 0.90). ER-negative grade 3 histopathology was more predictive of positive BRCA1 mutation status in women 50 years or older (LR = 4.13 (3.70 to 4.62)) versus younger than 50 years (LR = 3.16 (2.96 to 3.37)). For BRCA2, ER-positive grade 3 phenotype modestly predicted positive mutation status irrespective of age (LR = 1.7-fold), whereas ER-negative grade 3 features modestly predicted positive mutation status at 50 years or older (LR = 1.54 (1.27 to 1.88)). Triple-negative tumor status was highly predictive of BRCA1 mutation status for women younger than 50 years (LR = 3.73 (3.43 to 4.05)) and 50 years or older (LR = 4.41 (3.86 to 5.04)), and modestly predictive of positive BRCA2 mutation status in women 50 years or older (LR = 1.79 (1.42 to 2.24)). Conclusions: These results refine likelihood-ratio estimates for predicting BRCA1 and BRCA2 mutation status by using commonly measured histopathological features. Age at diagnosis is an important variable for most analyses, and grade is more informative than ER status for BRCA2 mutation carrier prediction. The estimates will improve BRCA1 and BRCA2 variant classification and inform patient mutation testing and clinical management.

DOI 10.1186/s13058-014-0474-y
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 - 4Web of Science - 1
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 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
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 - 2Web of Science - 2
Co-authors Roseanne Peel, Liz Holliday, John Attia, Nicholas Talley
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)
DOI 10.1111/cge.12251
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 - 2
Co-authors Michelle Wong-Brown, Nikola Bowden, 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 - 2Web of Science - 2
Co-authors Christopher Oldmeadow, Paul Tooney, Murray Cairns
2014 Green MJ, Chia T-Y, 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 - 3Web of Science - 1
Co-authors Paul Tooney, Murray Cairns
2014 Green MJ, Chia T-Y, Carr VJ, Cairns MJ, Tooney PA, Scott RJ, Wu J, '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)
DOI 10.1016/j.jpsychires.2013.10.018
Co-authors Murray Cairns, Paul Tooney
2014 Ripke S, Neale BM, Corvin A, Walters JTR, Farh K-H, 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 - 257Web of Science - 188
Co-authors Ulrich Schall, Pat Michie, Frans Henskens
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 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
Co-authors John Attia, Christopher Oldmeadow, Liz Holliday, Chris Levi, Jane Maguire
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 - 4Web of Science - 5
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 - 5Web of Science - 6
Co-authors Liz Holliday, John Attia
2014 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, (2014)

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 geno... [more]

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
Co-authors Liz Holliday, John Attia
2014 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, (2014)

Several studies have reported associations between multiple cancer types and single-nucleotide polymorphisms (SNPs) on chromosome 5p15, which harbours TERT and CLPTM1L, but no suc... [more]

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
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 Liz Holliday, Chris Levi, John Attia
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 - 1
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 - 1Web of Science - 1
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, Bailey HD, Fritschi L, Attia J, Scott RJ, et al., 'Childhood and parental diagnostic radiological procedures and risk of childhood brain tumors', Cancer Causes and Control, 25 375-383 (2014)
DOI 10.1007/s10552-014-0338-x
Citations Scopus - 1
Co-authors John Attia
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 - 6Web of Science - 4
Co-authors John Attia, Roseanne Peel, Christopher Oldmeadow, Liz Holliday
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
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)
DOI 10.1111/aji.12168
Citations Scopus - 1
Co-authors Ian Symonds, Joanna Latter, Nikola Bowden
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 - 1Web of Science - 2
Co-authors Ian Symonds, Nikola Bowden, Joanna Latter
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 - 8Web of Science - 7
Co-authors Christopher Oldmeadow, Liz Holliday, John Attia
2014 Thompson BA, Spurdle AB, Plazzer J-P, 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 - 53Web of Science - 53
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 - 1Web of Science - 1
Co-authors 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)
DOI 10.1007/s11102-013-0461-9
Co-authors Roger Smith, Vicki E Maltby
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 Web of Science - 1
Co-authors Roger Smith, Vicki E Maltby
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]

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 com... [more]

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
Co-authors Christopher Oldmeadow, Liz Holliday, Peter Schofield, 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 - 3Web of Science - 1
Co-authors John Attia, Christopher Oldmeadow, 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
2014 Masson AL, Talseth-Palmer BA, Evans T-J, 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
Co-authors Bente Talseth-Palmer
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
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
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, 9 23-23 (2014)
Co-authors Jane Maguire, Chris Levi
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 - 8Web of Science - 7
Co-authors Caroline Blackwell, Sharron Hall
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 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 - 13Web of Science - 15
Co-authors Lisa Wood, Peter Gibson, Jodie Simpson, 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 - 3Web of Science - 3
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 - 3
Co-authors 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 - 3
Co-authors Pablo Moscato
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 - 7Web of Science - 7
Co-authors Kelly Kiejda, John Forbes
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, 14 253 (2014)
DOI 10.1186/1471-2407-14-253
Citations Scopus - 3Web of Science - 3
Co-authors John Forbes, Kelly Kiejda
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 - 2Web of Science - 2
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 - 5Web of Science - 5
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
Co-authors Bente Talseth-Palmer
2013 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 Immun, 20 647-658 (2013) [C1]
DOI 10.1177/1753425913503893
Citations Scopus - 3Web of Science - 3
Co-authors Sharron Hall, Caroline Blackwell
2013 Graves M, Benton M, Lea R, 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.', Mult Scler, 20 1033-1041 (2013) [C1]
DOI 10.1177/1352458513516529
Citations Scopus - 4Web of Science - 1
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 - 9
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 - 24
Co-authors Pat Michie, Ulrich Schall, 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 Dymerska D, Kurzawski G, Suchy J, Kladny J, Huzarski T, Gronwald J, et al., 'Lynch syndrome mutations shared by the baltic states and poland', Clinical Genetics, (2013) [C3]
DOI 10.1111/cge.12251
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 - 6Web of Science - 7
Co-authors Bente Talseth-Palmer, Katie Ashton
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 - 2Web of Science - 3
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 - 15Web of Science - 16
Co-authors Murray Cairns, Paul Tooney, Brian Kelly
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 - 14
Co-authors Pat Michie, Frans Henskens, Ulrich Schall
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 - 3Web of Science - 3
Co-authors John Attia, Liz Holliday, Jane Maguire
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 - 3Web of Science - 3
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 - 7Web of Science - 5
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 - 5Web of Science - 2
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 - 2Web of Science - 1
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 - 20Web of Science - 20
Co-authors John Attia, Liz Holliday, Chris Levi
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 - 4Web of Science - 4
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 - 9Web of Science - 10
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 - 40Web of Science - 37
Co-authors 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 - 6Web of Science - 7
Co-authors Pablo Moscato
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 - 75Web of Science - 74
Co-authors Liz Holliday, Christopher Oldmeadow, 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 - 82Web of Science - 75
Co-authors Liz Holliday, Christopher Oldmeadow, John Attia
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 - 10Web of Science - 9
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 - 5Web of Science - 5
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 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 - 10Web of Science - 28
Co-authors Murray Cairns, Paul Tooney
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 - 3Web of Science - 2
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 - 13Web of Science - 13
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 - 6Web of Science - 7
Co-authors Paul Tooney, Ulrich Schall
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 - 6Web of Science - 6
Co-authors Kelly Kiejda, Liz Holliday, Nikola Bowden
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 - 6Web of Science - 6
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 - 46Web of Science - 43
Co-authors Pat Michie, Frans Henskens, Ulrich Schall
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 - 2Web of Science - 1
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 - 4Web of Science - 3
Co-authors Liz Holliday, Bente Talseth-Palmer, John Attia
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 - 8Web of Science - 6
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 Nikola Bowden, Kelly Kiejda, Katie Ashton, Xu Zhang
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 - 3Web of Science - 3
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 - 2Web of Science - 2
Co-authors Liz Holliday, John Attia
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 - 4Web of Science - 5
Co-authors Liz Holliday, John Attia
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 - 29Web of Science - 26
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 Liz Milward, Pablo Moscato, Regina Berretta
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 - 28Web of Science - 26
Co-authors John Attia
2012 Delima RD, Riveros RC, Olynyk JK, Scott R, Moscato PA, Milward AE, et al., 'Brain transcriptome perturbations in the Hfe(-/-) mouse model of genetic iron loading', Brain Research, 1448 144-152 (2012) [C1]
Citations Scopus - 7Web of Science - 6
Co-authors Pablo Moscato, Liz Milward
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 - 10Web of Science - 9
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 - 10Web of Science - 10
Co-authors 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 - 1Web of Science - 1
Co-authors Katie Ashton, 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 - 11Web of Science - 11
Co-authors Pablo Moscato, John Attia, Jane Maguire, Lisa Lincz, Liz Holliday, Chris Levi
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 - 6Web of Science - 4
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 - 17Web of Science - 16
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 - 26Web of Science - 24
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 - 2Web of Science - 2
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 - 22Web of Science - 22
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 - 15Web of Science - 15
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 - 57Web of Science - 48
Co-authors 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 - 47Web of Science - 47
Co-authors Pablo Moscato, John Attia, Lisa Lincz, Jane Maguire, Wayne Smith, Roseanne Peel, Mark Parsons, Chris Levi, Liz Holliday, Christopher Oldmeadow
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 - 37Web of Science - 39
Co-authors John Attia, Christopher Oldmeadow, Liz Holliday
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 - 60Web of Science - 53
Co-authors Murray Cairns, Paul Tooney
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 - 2Web of Science - 2
Co-authors Pablo Moscato, Liz Milward
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]
Citations Scopus - 3Web of Science - 5
Co-authors Pablo Moscato
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 - 24Web of Science - 23
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]
Citations Scopus - 23Web of Science - 21
Co-authors Nikola Bowden
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 - 10Web of Science - 7
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 - 7Web of Science - 1
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 (2012) [C1]
Citations Scopus - 23Web of Science - 20
Co-authors Paul Tooney, Murray Cairns
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 - 13Web of Science - 11
Co-authors Pablo Moscato
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 - 28Web of Science - 21
Co-authors Xu Zhang, Kelly Kiejda, Katie Ashton, Nikola Bowden, Bente Talseth-Palmer
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 - 13Web of Science - 11
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 - 112Web of Science - 102
Co-authors 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 - 1
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 - 35
Co-authors 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 - 21Web of Science - 15
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 - 16Web of Science - 17
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 - 8Web of Science - 8
Co-authors 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 - 4Web of Science - 2
Co-authors Leonie Ashman, Stephen Ackland
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 - 11Web of Science - 9
Co-authors John Attia
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 - 26Web of Science - 20
Co-authors Bente Talseth-Palmer, Katie Ashton
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 - 6Web of Science - 5
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 - 7Web of Science - 5
Co-authors Pablo Moscato
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 - 771Web of Science - 701
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 - 17Web of Science - 16
Co-authors Lisa Wood, Jodie Simpson, Peter Gibson, Katherine Baines
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 - 69Web of Science - 59
Co-authors Lisa Wood, Peter Gibson, Jodie Simpson, Katherine Baines
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 Michelle Wong-Brown, Kelly Kiejda
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 - 207Web of Science - 169
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 - 41Web of Science - 37
Co-authors Michelle Wong-Brown, Kelly Kiejda, Nikola Bowden, Bente Talseth-Palmer
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 - 21Web of Science - 24
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 - 5Web of Science - 5
Co-authors Christopher Oldmeadow, Liz Holliday, John Attia, Pablo Moscato
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 - 7Web of Science - 6
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 - 22Web of Science - 21
Co-authors Lisa Lincz, John Attia, Jane Maguire, Chris Levi
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 - 659Web of Science - 400
Co-authors Frans Henskens, Ulrich Schall, 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 - 46Web of Science - 44
Co-authors Katie Ashton
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 - 83Web of Science - 79
Co-authors John Attia, Liz Holliday
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 - 5
Co-authors John Attia, Patrick Mcelduff
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 - 55Web of Science - 52
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 - 10Web of Science - 9
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 - 26Web of Science - 25
Co-authors John Attia, Ian Symonds, Katie Ashton
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 - 18Web of Science - 17
Co-authors Pablo Moscato
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 - 92Web of Science - 77
Co-authors Murray Cairns, Pablo Moscato
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 - 19Web of Science - 19
Co-authors Regina Berretta, Pablo Moscato
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 - 19
Co-authors Pat Michie, Paul Tooney, Frans Henskens, Ulrich Schall
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 - 8Web of Science - 7
Co-authors Xu Zhang, Nikola Bowden, Kelly Kiejda, Katie Ashton
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 - 4Web of Science - 2
Co-authors Liz Holliday, John Attia
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 - 34Web of Science - 28
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 - 39Web of Science - 37
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 - 9Web of Science - 7
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 - 54Web of Science - 53
Co-authors Wayne Smith, Mddah01, Derek Smith, Peter Schofield, Roseanne Peel, John Attia, Julie Byles, Ben Ewald, Catherine Deste
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]
DOI 10.1371/journal.pone.0013454
Citations Scopus - 19
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 - 33Web of Science - 24
Co-authors Peter Gibson, Nikola Bowden, Katherine Baines, Jodie Simpson
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 - 40Web of Science - 40
Co-authors 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 - 28Web of Science - 27
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 - 17Web of Science - 16
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 - 12Web of Science - 9
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 - 33Web of Science - 26
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 - 24Web of Science - 22
Co-authors John Attia, Ian Symonds, Katie Ashton
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 - 41Web of Science - 33
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 - 11Web of Science - 10
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 - 28Web of Science - 25
Co-authors Katie Ashton, Ian Symonds, John Attia
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 - 84Web of Science - 78
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 - 7Web of Science - 5
Co-authors Katie Ashton, 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 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 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 - 19Web of Science - 17
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 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 - 32Web of Science - 26
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 - 8Web of Science - 7
Co-authors Paul Tooney, Judith Weidenhofer
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 - 27Web of Science - 26
Co-authors John Attia, Ian Symonds, Katie Ashton
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 - 58Web of Science - 56
Co-authors 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 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 - 88Web of Science - 85
Co-authors 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 - 42Web of Science - 38
Co-authors John Attia
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 - 7Web of Science - 7
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 - 11Web of Science - 10
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 - 14Web of Science - 15
Co-authors Katherine Baines, Jodie Simpson, Peter Gibson
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 - 11Web of Science - 11
Co-authors Peter Gibson, Jodie Simpson, Katherine Baines
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 - 32Web of Science - 30
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 - 275Web of Science - 230
Co-authors Pablo Moscato
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 - 24Web of Science - 21
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 - 4Web of Science - 4
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 - 224Web of Science - 179
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 - 50Web of Science - 45
Co-authors Kelly Kiejda, Xu Zhang
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 - 32Web of Science - 32
Co-authors Paul Tooney, Nikola Bowden
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 - 27Web of Science - 21
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 - 7Web of Science - 6
Co-authors John Attia, Ian Symonds, Katie Ashton
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 - 31Web of Science - 5
Co-authors John Attia
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 - 12
Co-authors Nikola Bowden, Bente Talseth-Palmer
2008 Scott R, Crooks R, Meldrum C, 'Gene symbol: STK11. Disease: Peutz-Jeghers Syndrome.', Human genetics, 124 300-300 (2008) [C3]
Citations Scopus - 2
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 - 96Web of Science - 93
Co-authors Anna 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 - 27Web of Science - 23
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 - 8Web of Science - 5
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 - 22Web of Science - 18
Co-authors Katie Ashton, 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 - 19Web of Science - 17
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 - 106Web of Science - 95
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 - 10Web of Science - 10
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 - 34Web of Science - 29
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 - 20Web of Science - 19
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 - 9Web of Science - 7
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 - 174Web of Science - 165
Co-authors Murray Cairns, Paul Tooney, Nikola Bowden
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 Web 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 - 34Web of Science - 36
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 - 31
Co-authors Lisa Lincz, John Attia, Mark Parsons, Chris Levi
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 - 49Web of Science - 49
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 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 - 37Web of Science - 34
Co-authors Kelly Kiejda, Xu Zhang
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 - 4Web of Science - 4
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 - 5Web of Science - 4
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 - 28Web of Science - 28
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 - 11
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 - 1360
Co-authors 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 - 10Web of Science - 9
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 - 134Web of Science - 123
Co-authors Peter Gibson, Jodie Simpson
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 - 31Web of Science - 29
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 - 12Web of Science - 9
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 - 25Web of Science - 24
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 Web of Science - 17
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 - 4
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 - 36Web of Science - 34
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 - 25Web of Science - 22
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 - 13Web of Science - 14
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 - 32Web of Science - 30
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 - 12Web of Science - 11
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 - 15Web 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 - 32Web of Science - 31
Co-authors Sharron Hall, Maree Gleeson, Caroline Blackwell
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 - 77Web of Science - 67
Co-authors Paul Tooney, Pat Michie, Judith Weidenhofer, Nikola Bowden, Ulrich Schall, Juanita Todd
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 - 255Web of Science - 230
Co-authors Jodie Simpson, Peter Gibson
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 - 32Web of Science - 32
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 - 2
Co-authors Katie Ashton
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]
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 - 16Web of Science - 13
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 - 269Web of Science - 216
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 Nikola Bowden, Judith Weidenhofer, Paul Tooney
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 - 11Web of Science - 11
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
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 - 10Web of Science - 9
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 - 43Web of Science - 40
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 - 118Web of Science - 105
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 - 57Web of Science - 52
Co-authors Sharron Hall, Maree Gleeson, Caroline Blackwell
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, 54 S137-S137 (2005)
Co-authors Peter Gibson, Jodie Simpson
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 - 22Web of Science - 19
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 - 95Web of Science - 86
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 - 9Web of Science - 8
Co-authors Katie Ashton
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 - 115Web of Science - 112
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 - 67Web of Science - 58
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 - 1
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 - 33Web of Science - 29
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 - 118Web of Science - 100
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 - 21Web of Science - 18
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 - 43Web of Science - 36
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 - 32
Co-authors Maree Gleeson, Caroline Blackwell, 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 Caroline Blackwell, Maree Gleeson, Sharron Hall
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 - 31Web of Science - 21
Co-authors Sharron Hall, Maree Gleeson, Caroline Blackwell
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
Co-authors Katie Ashton
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 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 - 56Web of Science - 57
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 - 21Web of Science - 17
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 - 37Web of Science - 33
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 - 25
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 - 27Web of Science - 24
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]
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 - 40Web of Science - 40
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 - 24Web of Science - 20
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 - 58Web of Science - 54
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 Web of Science - 39
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 - 26Web of Science - 24
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 - 135Web of Science - 125
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 - 22Web of Science - 5
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 - 30Web of Science - 21
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 - 22
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 - 16Web of Science - 14
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 - 16
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 - 4Web of Science - 5
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 - 60
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 - 51Web of Science - 42
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 - 151
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 Web 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 - 108
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 - 50Web of Science - 46
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
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 - 87Web of Science - 103
Co-authors Rob Sanson-Fisher
Show 364 more journal articles

Conference (187 outputs)

Year Citation Altmetrics Link
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, Toronto, CANADA (2015)
Co-authors Paul Tooney, Brian Kelly, Murray Cairns
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, Adelaide, AUSTRALIA (2015)
Co-authors 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, Barcelona, SPAIN (2015)
DOI 10.1093/annonc/mdv233.270
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, Stockholm, Sweden (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, Munich, Germany (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, Manly, NSW, Australia (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, Newcastle, NSW, Australia (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, Newcastle, NSW, Australia (2014) [E3]
Co-authors Kelly Kiejda
2014 Bolton KA, Ross JP, Grice DM, Bowden NA, Holliday EG, Avery-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, Newcastle, NSW, Australia (2014)
Co-authors Liz Holliday, Nikola Bowden, 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, Newcastle, NSW, Australia (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, Sydney, NSW, Australia (2014) [E3]
Co-authors Nikola Bowden, Katie Ashton
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, Adelaide, SA, Australia (2014) [E3]
Co-authors Kirsty Pringle, Caroline Blackwell
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, Newcastle, NSW, Australia (2014) [E3]
Co-authors Liz Holliday, Nikola Bowden, Kelly Kiejda
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, Boston, MA (2014) [E3]
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, Boston, MA (2014) [E3]
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 Katherine Baines, Jodie Simpson, Lisa Wood
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 Peter Schofield, Christopher Oldmeadow, John Attia, Liz Holliday
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, Washington, DC (2014) [E3]
DOI 10.1016/j.jalz.2014.05.1159
Co-authors John Attia, Liz Holliday, Christopher Oldmeadow
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]
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 Michelle Wong-Brown, Kelly Kiejda, John Forbes
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 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-INDUCED GENE EIG121 IS A POTENTIAL MODIFIER OF ENDOMETRIAL CANCER RISK', ASIA-PACIFIC JOURNAL OF CLINICAL ONCOLOGY (2014) [E3]
Co-authors Nikola Bowden, Liz Holliday, Kelly Kiejda, John Attia
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, Katie Ashton
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 Xu Zhang, Rick Thorne, 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 Chris Levi, Jane Maguire
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]
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 John Forbes, Kelly Kiejda, 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, Newcastle, NSW, Australia (2014) [E3]
Co-authors Katie Ashton, Nikola Bowden
2014 Wong-Brown M, Scott RJ, 'Low prevalence of germline PALB2 mutations in Australian triple-negative breast cancer', Abstract booklet, Kingscliff (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, Newcastle, NSW, Australia (2014) [E3]
DOI 10.1111/ajco.12335
Co-authors John Attia, Kelly Kiejda, Liz Holliday, Nikola Bowden
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, Lorne, VIC, Australia (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, Lorne, VIC, Australia (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, Lorne, VIC, Australia (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, Lorne, VIC, Australia (2013) [E3]
Co-authors Michelle Wong-Brown, Kelly Kiejda, John Forbes
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, Lorne, VIC, Australia (2013) [E3]
Co-authors Nikola Bowden, Kelly Kiejda, Liz Holliday
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, London, UK (2013) [E3]
Co-authors Kelly Kiejda, Michelle Wong-Brown, John Forbes
2013 Talseth-Palmer B, Meldrum C, Ashton KA, Spigelman A, Scott RJ, 'Revealing cancer complexity - Identification of Lynch syndrome cases', Familial Cancer, Carins, QLD (2013) [E3]
Co-authors Katie Ashton, 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, Carins, QLD (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, Cairns, QLD, Australia. (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, Newcastle (2013) [E3]
Citations Web of Science - 1
Co-authors Kelly Kiejda, Nikola Bowden, Michelle Wong-Brown
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, Belo Horizonte, Brazil (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, Newcastle, Australia (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, Newcastle, Australia (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, Newcastle, Australia (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, Washington, DC (2013) [E3]
DOI 10.1158/1538-7445.AM2013-LB-237
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, Copenhagen, DENMARK (2013) [E3]
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, Orlando, FL (2013) [E3]
Co-authors John Attia, Liz Holliday
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, Adelaide, SA (2012) [E3]
Co-authors Nikola Bowden, Kelly Kiejda, Liz Holliday
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, Gold Coast, Queensland (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, Gold Coast, QLD (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, Shoal Bay, NSW (2012) [E3]
Co-authors Bente Talseth-Palmer
2012 Scott R, 'Overview of genetic markers for hereditary colorectal cancer', Hereditary Cancer in Clinical Practice, Szczecin, Poland (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, Sydney, NSW (2012) [E3]
Co-authors Bente Talseth-Palmer, Katie Ashton
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, Sydney, NSW (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, Kingscliff, NSW (2012) [E3]
Co-authors Michelle Wong-Brown, Nikola Bowden, Kelly Kiejda
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, Kingscliff, NSW (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, Perth, Australia (2012) [E1]
Co-authors Ulrich Schall, Pat Michie, Frans Henskens
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, Vilamoura, Algarve (2012) [E1]
Co-authors Ulrich Schall, Pat Michie, Frans Henskens
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, San Antonio, Texas (2012) [E3]
Co-authors Nikola Bowden, Michelle Wong-Brown, Kelly Kiejda
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, Florence, Italy (2012) [E3]
Co-authors Frans Henskens, Paul Tooney, Pat Michie, Ulrich Schall
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, Canberra, ACT (2012) [E3]
Co-authors Katherine Baines, Jodie Simpson, Peter Gibson, Lisa Wood
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, Canberra, ACT (2012) [E3]
Co-authors Katherine Baines, Lisa Wood, Jodie Simpson, Peter Gibson
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, Melbourne, AUSTRALIA (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, Hamburg, Germany (2012) [E3]
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, Adelaide, SA (2012) [E3]
Co-authors John Attia, Liz Holliday, Bente Talseth-Palmer
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, Szczecin, Poland (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, Lorne, Vic (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, Adelaide, SA (2011) [E3]
Co-authors Lisa Lincz, Mark Parsons, Pablo Moscato, John Attia, Liz Holliday, Chris Levi, Jane Maguire
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, Tampa, FL (2011) [E3]
DOI 10.1111/j.1755-148X.2011.00909.x
Co-authors Xu Zhang, Kelly Kiejda, Nikola Bowden, Katie Ashton
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, Tampa, FL (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, San Antonio, Texas (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, Canberra, ACT (2011) [E3]
Co-authors John Forbes, Kelly Kiejda
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, Amsterdam (2011) [E3]
Co-authors Jodie Simpson, Peter Gibson, Lisa Wood, Katherine Baines
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, Amsterdam (2011) [E3]
Co-authors Lisa Wood, Katherine Baines, Jodie Simpson, Peter Gibson
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, Amsterdam (2011) [E3]
Co-authors Lisa Wood, Peter Gibson, Katherine Baines, 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, Kingscliff, NSW (2011) [E3]
Co-authors Katie Ashton, 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, Banff, AL (2011) [E3]
Co-authors John Forbes, Kelly Kiejda
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, Schizophrenia Bulletin (2011) [E3]
Co-authors Pat Michie, Paul Tooney, Frans Henskens, 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, Colorado Springs, CO (2011) [E3]
Co-authors Paul Tooney, Brian Kelly, 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, Canberra, Australia (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, Sydney, NSW (2011) [E3]
Co-authors Sharron Hall, Caroline Blackwell, Maree Gleeson
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), Vancouver, Canada (2011) [E3]
Co-authors Liz Milward, Pablo Moscato
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, Adelaide, SA (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, San Antonio, TX (2011) [E3]
Co-authors Bente Talseth-Palmer, Katie Ashton
2011 Baines KJ, Simpson JL, Scott R, Wood LG, Gibson PG, 'Analysis of systemic gene expression according to inflammatory phenotype of asthma', Respirology, Perth, WA (2011) [E3]
Co-authors Katherine Baines, Jodie Simpson, Peter Gibson, 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, Melbourne, VIC (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, Sydney, NSW (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, Antalya, Turkey (2010) [E3]
Co-authors Robin Callister, Maree Gleeson
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, Lorne, Vic. (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, Biopolis, Singapore (2010) [E3]
Co-authors Nikola Bowden, Michelle Wong-Brown, Kelly Kiejda
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, Washington, DC (2010) [E3]
DOI 10.1158/0008-5472.CAN-10-0161
Co-authors Xu Zhang, Kelly Kiejda, Katie Ashton, 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, Hobart, Tasmania (2010) [E3]
Co-authors Liz Holliday, Bente Talseth-Palmer
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, New Orleans, LO (2010) [E3]
Co-authors Katherine Baines, Jodie Simpson, Peter Gibson, Lisa Wood
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, Sydney, NSW (2010) [E3]
Co-authors Paul Tooney, Murray Cairns
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, Shoal Bay, NSW (2010) [E3]
Co-authors Katherine Baines, Peter Gibson, Lisa Wood, Jodie Simpson
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, Dusseldorf, Germany (2010) [E3]
DOI 10.1038/ejhg.2008.239
Citations Scopus - 11Web of Science - 12
Co-authors Bente Talseth-Palmer, Patrick Mcelduff
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, Dusseldorf, Germany (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, Dusseldorf, Germany (2010) [E3]
Citations Scopus - 17Web of Science - 13
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, Sydney, NSW (2010) [E3]
Co-authors Kelly Kiejda, Katie Ashton, Xu Zhang, Nikola Bowden
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, Sydney, NSW (2010) [E3]
Co-authors Michelle Wong-Brown, John Forbes, 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, Sydney, NSW (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, Sydney, NSW (2010) [E3]
Co-authors John Forbes, Kelly Kiejda
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, Sydney, NSW (2010) [E3]
Co-authors Katie Ashton, Bente Talseth-Palmer
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 Murray Cairns, Paul Tooney
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 Frans Henskens, Ulrich Schall, Paul Tooney
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, Sydney, Australia (2010) [E3]
Co-authors Ulrich Schall, Murray Cairns, Paul Tooney
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, Beijing (2010) [E3]
Co-authors Lisa Lincz, Jane Maguire, John Attia, Chris 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, Florence, Italy (2010) [E3]
Co-authors Pat Michie, Frans Henskens, Ulrich Schall
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, Florence, Italy (2010) [E3]
Co-authors Frans Henskens, Pat Michie, Ulrich Schall
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, Florence, Italy (2010) [E3]
Co-authors Frans Henskens, Pat Michie, 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, Oslo, NORWAY (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, Brisbane, QLD (2010) [E3]
Co-authors Jodie Simpson, Lisa Wood, Peter Gibson, Katherine Baines
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, Melbourne, Vic (2010) [E3]
Co-authors Bente Talseth-Palmer, John Attia, Liz Holliday
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, Porto, Portugal (2009) [E3]
Co-authors Derek Laver, Karen Kerr, Dirk Vanhelden, 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, Porto, Portugal (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, Porto, Portugal (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, Porto, Portugal (2009) [E3]
Co-authors 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, Lorne, VIC (2009) [E3]
Co-authors Kelly Kiejda, 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, Tubingen, Germany (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, Katoomba, NSW (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, Katoomba, NSW (2009) [E3]
Co-authors Nikola Bowden
2009 Evans T-J, Bowden NA, Talseth-Palmer B, Catchpoole D, Scott R, 'Copy number variation in childhood acute lmphoblastic leukaemia', AMATA 2009, Katoomba, NSW (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, Katoomba, NSW (2009) [E3]
Co-authors Katie Ashton, Katherine Baines, Nikola Bowden
2009 Kairupan CF, Bowden NA, Ashton KA, Zhang XD, Hersey P, Scott R, 'Gene expression profiling in malignant melanoma', AMATA 2009, Katoomba, NSW (2009) [E3]
Co-authors Katie Ashton, Xu Zhang, Nikola Bowden
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, Hobart, TAS (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, Sydney, NSW (2009) [E3]
Co-authors Karen Kerr, Dirk Vanhelden, Liz Milward, Derek Laver
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, Sydney, NSW (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, Sydney, Australia (2009)
Co-authors Frans Henskens, Pat Michie, Ulrich Schall
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, Oporto, PORTUGAL (2009) [E1]
Co-authors Ulrich Schall, Pat Michie, Frans Henskens
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, Hobart, TAS (2009) [E3]
Co-authors Regina Berretta, Pablo Moscato, Liz Milward
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, San Diego, CA (2009) [E3]
DOI 10.1093/schbul/sbn173
Co-authors Ulrich Schall, Pat Michie, Frans Henskens
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, San Diego, CA (2009) [E3]
DOI 10.3109/00048674.2010.501758
Citations Scopus - 23
Co-authors Ulrich Schall, Terry Lewin, Frans Henskens, Pat Michie
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, Brussels, Belgium (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, Stockholm, Sweden (2009) [E3]
DOI 10.1159/000221772
Co-authors Chris Levi, John Attia, Lisa Lincz
2008 Baines KJ, Simpson JL, Scott R, Gibson PG, 'Ageing alters airway and circulating neutrophil function', Respirology, Melbourne, VIC (2008) [E3]
DOI 10.1111/j.1440-1843.2008.01252.x
Co-authors Jodie Simpson, Peter Gibson, Katherine Baines
2008 Baines KJ, Simpson JL, Scott R, Gibson PG, 'Innate immune responses of airway neutrophils are impaired in neutrophilic asthma', Respirology, Melbourne, VIC (2008) [E3]
DOI 10.1111/j.1440-1843.2008.01252.x
Co-authors Peter Gibson, Jodie Simpson, Katherine Baines
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, Lorne, VIC (2008) [E3]
Co-authors Frans Henskens, Pat Michie, Ulrich Schall
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, Brisbane, QLD (2008) [E3]
Co-authors Xu Zhang, Kelly Kiejda, Katie Ashton, Nikola Bowden
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, Chicago, IL (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, Lorne, VIC (2008) [E3]
Co-authors Xu Zhang, Kelly Kiejda
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, San Diego, CA (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, Sydney, NSW (2008) [E3]
Co-authors John Attia, Ian Symonds, Katie Ashton
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, Sydney, NSW (2008) [E3]
Co-authors Nikola Bowden, Katherine Baines
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, Newcastle, NSW (2008) [E3]
Co-authors Katherine Baines, Nikola Bowden, Katie Ashton
2008 Ashton KA, Proietto AM, Otton GR, Hamann U, Scott R, 'The genetic basis of endometrial cancer', Conference on Translational Cancer Research: Abstracts, Newcastle, NSW (2008) [E3]
Co-authors Katie Ashton
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, Newcastle, NSW (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, Singapore (2008) [E3]
Co-authors Katie Ashton
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, Newcastle, NSW (2008) [E3]
Co-authors Terry Lewin, Pat Michie, Frans Henskens, Ulrich Schall
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), Colorado Springs, Colorado (2007) [E3]
Co-authors Ulrich Schall, Pat Michie, Frans Henskens, Terry Lewin
2007 Baines KJ, Bowden NA, Scott R, Simpson JL, Gibson PG, 'Molecular analysis of neutrophils in asthma subtypes', Respirology (TSANZ Abstracts-Posters), Auckland (2007) [E3]
DOI 10.1111/j.1440-1843.2007.001050.x
Co-authors Katherine Baines, Peter Gibson, 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), Prague, Czech Republic (2007) [E3]
Citations Web of Science - 2
Co-authors Regina Berretta, Nikola Bowden, 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, Tamworth, NSW (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, Sydney, NSW (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, Sydney, NSW (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, York, U.K. (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, Melbourne, Australia (2007)
Co-authors Frans Henskens, Pat Michie, Terry Lewin, Ulrich Schall
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), Auckland (2007) [E3]
DOI 10.1111/j.1440-1843.2007.001050.x
Co-authors Jodie Simpson, Peter Gibson
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), Colorado Springs, Colorado (2007) [E3]
Co-authors Murray Cairns, Paul Tooney
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), Colorado Springs, Colorado (2007) [E3]
Co-authors Murray Cairns, Nikola Bowden, Paul Tooney
2006 Simpson JL, Scott R, Boyle MJ, Oldham RA, Gibson PG, 'IL-8 levels ininflammatory subtypes of airway disease', Respirology, Canberra (2006) [E3]
Co-authors Jodie Simpson, Peter Gibson
2006 Simpson JL, Scott R, Boyle MJ, Gibson PG, 'Inflammatory subtypes in asthma with fixed airflow obstruction', Respirology, Canberra (2006) [E3]
Co-authors Jodie Simpson, Peter Gibson
2006 Baines KJ, Simpson JL, Scott R, Bell NV, Boyle MJ, Gibson PG, 'Enhanced IL-8 release from neutrophils in non-eosinophilic asthma', Respirology, Canberra (2006) [E3]
Co-authors Peter Gibson, Katherine Baines, Jodie Simpson
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, Tokyo (2006) [E3]
Co-authors Jodie Simpson, Peter Gibson
2006 Simpson JL, Scott R, Boyle MJ, Gibson PG, 'Inflammatory subtypes in Asthma with fixed airflow obstruction', American Thoracic Society. Proceedings, San Diego, California (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, Brisbane, QLD (2006) [E3]
Co-authors Katie Ashton
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), Fremantle, Western Australia (2006) [E3]
Co-authors Nikola Bowden, Paul Tooney, Judith Weidenhofer
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, Brisbane, QLD (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, Brisbane (2005) [E3]
Co-authors Paul Tooney
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, Perth, AUSTRALIA (2005)
Co-authors Leonie Ashman
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, Newcastle (2005) [E3]
Co-authors Paul Tooney, Juanita Todd, Ulrich Schall, Nikola Bowden, Judith Weidenhofer, Pat Michie
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, Newcastle, NSW (2005) [E3]
Co-authors Katie Ashton, 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, Newcastle, NSW (2005) [E3]
Co-authors Katie Ashton, 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, Ireland (2004) [E3]
DOI 10.1002/ajmg.b.30101
Co-authors Paul Tooney, Juanita Todd, Ulrich Schall, Nikola Bowden, Judith Weidenhofer
2004 Weidenhofer JC, Bowden NA, Scott R, Tooney PA, 'Gene Profiling in the Amygdala in Schizophrenia', American Journal of Medical Genetics, Ireland (2004) [E3]
Co-authors Paul Tooney, Judith Weidenhofer, 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, Melbourne (2004) [E3]
Co-authors Paul Tooney, Ulrich Schall, Juanita Todd, Judith Weidenhofer, Nikola Bowden
2004 Weidenhofer JC, Bowden NA, Scott R, Tooney PA, 'Altered Gene Expression Profiles in the Amygdala in Schizophrenia', Proceedings of the Australian Neuroscience Society, Melbourne (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, Melbourne (2004) [E3]
Co-authors Nikola Bowden, Judith Weidenhofer, Ulrich Schall, Paul Tooney, Juanita Todd
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, Cleveland, Ohio (2003) [E4]
Co-authors Maree Gleeson
2003 Edwards M, Roddick L, Scott R, 'Autosomal dominant nonsyndromic cleft lip and palate linked to chromosome 4', AMERICAN JOURNAL OF HUMAN GENETICS, LOS ANGELES, CALIFORNIA (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, NEW ORLEANS, LOUISIANA (1999)
DOI 10.1002/(SICI)1097-0142(19990615)85:12<2512::AID-CNCR4>3.0.CO;2-G
Citations Web of Science - 30
Show 184 more conferences
Edit

Grants and Funding

Summary

Number of grants 137
Total funding $28,614,649

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


20156 grants / $1,163,596

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, 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, Professor Rodney Scott
Scheme Research Grant
Role Investigator
Funding Start 2015
Funding Finish 2015
GNo G1400352
Type Of Funding Grant - Aust Non Government
Category 3AFG
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, 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 Professor Rodney Scott
Scheme NSW MRSP Infrastructure Grant
Role Lead
Funding Start 2015
Funding Finish 2015
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, Professor Rodney Scott
Scheme Medical Research Project Grants
Role Investigator
Funding Start 2015
Funding Finish 2015
GNo G1401048
Type Of Funding Aust Competitive - Non Commonwealth
Category 1NS
UON Y

Too Much of a Good Thing: Application for a triple-gas incubator to allow cell culture under normal conditions$15,175

Funding body: Hunter Medical Research Institute

Funding body Hunter Medical Research Institute
Project Team Doctor Craig Gedye, Professor Rodney Scott, Doctor Nikola Bowden, Doctor 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 / $7,694,546

Hunter Cancer Research Alliance; HCRA$5,978,356

Funding body: Cancer Institute NSW

Funding body Cancer Institute NSW
Project Team Conjoint Professor Stephen Ackland, Professor Rodney Scott, Professor John Forbes, Laureate Professor Robert Sanson-Fisher, Professor Xu Dong Zhang, Conjoint Associate Professor Anthony Proietto, Conjoint Professor Peter Greer, Associate Professor Christine Paul
Scheme Translational Cancer Research Centre Grants
Role Investigator
Funding Start 2014
Funding Finish 2014
GNo G1301098
Type Of Funding Other Public Sector - State
Category 2OPS
UON Y

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, 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 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 2014
GNo G1400792
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 Associate Professor Jeannette Lechner-Scott, Professor Rodney Scott, Associate Professor Helmut Butzkueven, Professor Bruce Taylor
Scheme Project Grant
Role Investigator
Funding Start 2014
Funding Finish 2014
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, 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, Professor Rodney Scott
Scheme Fellowship Award
Role Investigator
Funding Start 2014
Funding Finish 2014
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, 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 Doctor 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, 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, 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

The Virtuous Circle: A Living Brain Cancer BioBank$74,650

Funding body: Hunter Medical Research Institute

Funding body Hunter Medical Research Institute
Project Team Professor Rodney Scott, Doctor Craig Gedye
Scheme Project Grant
Role Lead
Funding Start 2014
Funding Finish 2014
GNo G1401406
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 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, 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, 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, Professor Rodney Scott, Professor John Attia, Conjoint Associate 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, 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, Professor Rodney Scott, Conjoint Professor Chris Levi, Professor John Attia, Associate Professor 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 Fund

Funding body John Hunter Hospital Charitable Trust Fund
Project Team Professor Darryl Knight, Professor Phil Hansbro, Laureate Professor Paul Foster, 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, 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

201314 grants / $1,657,266

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, Professor Rodney Scott
Scheme Collaborative Breast Cancer Research Grant Program
Role Investigator
Funding Start 2013
Funding Finish 2013
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 Professor Rodney Scott, Professor Pablo Moscato
Scheme NSW MRSP Infrastructure Grant
Role Lead
Funding Start 2013
Funding Finish 2013
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 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, Professor Rodney Scott, Associate Professor Steven Djordjevic, Professor Brett Neilan, Professor Rick Cavicchioli, Professor Ian Charles, Professor Nicolle Packer, Conjoint 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 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 2013
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, Professor Rodney Scott, Associate Professor Steven Djordjevic, Professor Brett Neilan, Professor Rick Cavicchioli, Professor Ian Charles, Professor Nicolle Packer, Conjoint 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 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 2013
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 Associate Professor Jeannette Lechner-Scott, 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

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 Associate Professor Jeannette Lechner-Scott, Professor Rodney Scott, Dr Rodney Lea
Scheme Project Grant
Role Investigator
Funding Start 2013
Funding Finish 2013
GNo G1300511
Type Of Funding Contract - Aust Non Government
Category 3AFC
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, 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 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 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, Professor Rodney Scott, Conjoint Associate Professor Jonathan Sturm, Associate Professor Jonathan Rosand, Doctor Lisa Lincz, Associate Professor 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, Professor Rodney Scott, Conjoint Associate Professor Jonathan Sturm, Associate Professor Jonathan Rosand, Doctor Lisa Lincz, Associate Professor 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 / $1,522,230

Single Cell Genomics$200,000

Funding body: University of Newcastle

Funding body University of Newcastle
Project Team Professor Ian Paulsen, 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, Professor Roger Smith, 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, 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, Professor Roger Smith, 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, Professor Roger Smith, 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, 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, Professor Rodney Scott
Scheme Project Grant
Role Investigator
Funding Start 2012
Funding Finish 2012
GNo G1200322
Type Of Funding Contract - Aust Non Government
Category 3AFC
UON Y

p53 isoforms in breast cancer - MM Sawyer Estate Scholarship$75,000

Funding body: Hunter Medical Research Institute

Funding body Hunter Medical Research Institute
Project Team Doctor Kelly Kiejda, Professor Rodney Scott
Scheme Mary Minto Sawyer Grant
Role Investigator
Funding Start 2012
Funding Finish 2012
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 Professor Rodney Scott, Doctor Carmel Loughland
Scheme Research Grant
Role Lead
Funding Start 2012
Funding Finish 2012
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, 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, 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, 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, Professor Rodney Scott
Scheme Translational Cancer Research Unit
Role Investigator
Funding Start 2011
Funding Finish 2011
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 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 Professor Roger Smith, Conjoint Professor Tam Zakar, Professor Jon Hirst, Doctor Kaushik Maiti, Doctor Gemma Madsen, 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 Associate Professor Jeannette Lechner-Scott, Professor Rodney Scott
Scheme Project Grant
Role Investigator
Funding Start 2011
Funding Finish 2011
GNo G1100271
Type Of Funding Contract - Aust Non Government
Category 3AFC
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 Professor Rodney Scott
Scheme Bowel Cancer Scholarship
Role Lead
Funding Start 2011
Funding Finish 2011
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 Professor Rodney Scott
Scheme Collaborative Relationship Agreement
Role Lead
Funding Start 2011
Funding Finish 2011
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, 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, 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 Conjoint Associate Professor Murray Cairns, Professor Rodney Scott, Associate Professor Paul Tooney, Emeritus Professor John Rostas, Professor Alan Brichta
Scheme Project Grant
Role Investigator
Funding Start 2010
Funding Finish 2010
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 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 Professor Rodney Scott
Scheme National Research Flagship Project
Role Lead
Funding Start 2010
Funding Finish 2010
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 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 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 Professor Roger Smith, Professor Rodney Scott, Conjoint Associate Professor Rick Nicholson, Conjoint Professor Tam Zakar
Scheme Near Miss
Role Investigator
Funding Start 2010
Funding Finish 2010
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 Conjoint Associate Professor Murray Cairns, Doctor Jing Qin Wu, Associate Professor Paul Tooney, 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, 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 Professor Rodney Scott, Professor John Attia, Mr 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, Professor Rodney Scott, Doctor Lisa Lincz, Dr Simon Koblar, Professor Pablo Moscato
Scheme Project Grant
Role Investigator
Funding Start 2009
Funding Finish 2009
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 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 Professor Rodney Scott, Doctor Nikola Bowden, Doctor Bente Talseth-Palmer
Scheme Paediatric Oncology Project Grant
Role Lead
Funding Start 2009
Funding Finish 2009
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, Professor Rodney Scott
Scheme Scholarships - Medical and Dental Postgraduate Research
Role Investigator
Funding Start 2009
Funding Finish 2009
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, 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 Professor Rodney Scott, Doctor Nikola Bowden, Doctor Katie Ashton
Scheme Postdoctoral Fellowship
Role Lead
Funding Start 2009
Funding Finish 2009
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, 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, 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, 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 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, 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 Health

Funding body NSW Health
Project Team Conjoint Professor Vaughan Carr, Professor Rodney Scott, Associate Professor Paul Tooney, Professor Brian Kelly, Conjoint Associate Professor Murray Cairns
Scheme Project Grant
Role Investigator
Funding Start 2008
Funding Finish 2008
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, 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 2008
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, 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 2008
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 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 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 Professor Rodney Scott, Conjoint Associate Professor Jeannette Lechner-Scott
Scheme Macquarie Group Foundation PhD Scholarship in Information Based Medicine
Role Lead
Funding Start 2008
Funding Finish 2008
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 Associate Professor Derek Laver, Associate Professor Liz Milward, Professor Dirk Van Helden, 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, Professor Rodney Scott, Associate Professor Helen Stain, Doctor 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, 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, 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 Associate Professor Jeannette Lechner-Scott, 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 Professor Rodney Scott, Professor Pablo Moscato
Scheme NSW MRSP Infrastructure Grant
Role Lead
Funding Start 2007
Funding Finish 2007
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, Professor Rodney Scott, Dr Michael Langston
Scheme Discovery Projects
Role Investigator
Funding Start 2007
Funding Finish 2007
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 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, 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, 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, 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 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 Infrastructure Equipment & Facilities (LIEF)
Role Lead
Funding Start 2006
Funding Finish 2006
GNo G0185547
Type Of Funding Scheme excluded from IGS
Category EXCL
UON Y

Breast Cancer Tissue Bank$550,000

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

Funding body NHMRC (National Health & Medical Research Council)
Project Team Professor Rodney Scott
Scheme Enabling Grants - Clinical Trials Resources
Role Lead
Funding Start 2006
Funding Finish 2006
GNo G0187201
Type Of Funding Other Public Sector - Commonwealth
Category 2OPC
UON Y

The Effects of Genetic Background and Cigarette Smoke on Inflammatory Responses Implicated in Sudden Infant Death Syndrome$307,136

Funding body: Foundation for the Study of Infant Deaths

Funding body Foundation for the Study of Infant Deaths
Project Team Conjoint Professor Caroline Blackwell, Emeritus Professor Maree Gleeson, Professor Rodney Scott
Scheme Project Grant
Role Investigator
Funding Start 2006
Funding Finish 2006
GNo G0186233
Type Of Funding International - Competitive
Category 3IFA
UON Y

Investigation of miRNAs in schizophrenia$20,000

Funding body: University of Newcastle

Funding body University of Newcastle
Project Team Conjoint Associate Professor Murray Cairns, Associate Professor Paul Tooney, Professor Rodney Scott
Scheme Pilot Grant
Role Investigator
Funding Start 2006
Funding Finish 2006
GNo G0186685
Type Of Funding Internal
Category INTE
UON Y

Application of novel parameterized complexity techniques to problems in functional genomics$19,946

Funding body: University of Newcastle

Funding body University of Newcastle
Project Team Professor Pablo Moscato, Professor Rodney Scott
Scheme Near Miss Grant
Role Investigator
Funding Start 2006
Funding Finish 2006
GNo G0186046
Type Of Funding Internal
Category INTE
UON Y

Genetic susceptibility in Endometrial Cancer$15,000

Funding body: Hunter Medical Research Institute

Funding body Hunter Medical Research Institute
Project Team Doctor Katie Ashton, Professor Rodney Scott
Scheme Special Competitive Research Fund for Early Career Researchers in Cancer
Role Investigator
Funding Start 2006
Funding Finish 2006
GNo G0186110
Type Of Funding Not Known
Category UNKN
UON Y

In vitro assessment of genetic and environmental risk factors for SIDS$14,000

Funding body: Hunter Medical Research Institute

Funding body Hunter Medical Research Institute
Project Team Conjoint Professor Caroline Blackwell, Professor Rodney Scott, Emeritus Professor Maree Gleeson
Scheme Project Grant
Role Investigator
Funding Start 2006
Funding Finish 2006
GNo G0186556
Type Of Funding Contract - Aust Non Government
Category 3AFC
UON Y

Genetic origins of childhood cancer$11,000

Funding body: Hunter Medical Research Institute

Funding body Hunter Medical Research Institute
Project Team Professor Rodney Scott, Doctor Bente Talseth-Palmer
Scheme Project Grant
Role Lead
Funding Start 2006
Funding Finish 2006
GNo G0186093
Type Of Funding Contract - Aust Non Government
Category 3AFC
UON Y

Identification of single nucleotide polymorphisms that are associated with an increased risk of colectoral cancer$9,050

Funding body: University of Newcastle

Funding body University of Newcastle
Project Team Professor Rodney Scott, Professor Robyn Ward, Assoc. Prof Nicholas Hawkins, Professor John Attia, Conjoint Professor David Sibbritt, Professor Pablo Moscato
Scheme Near Miss Grant
Role Lead
Funding Start 2006
Funding Finish 2006
GNo G0186073
Type Of Funding Internal
Category INTE
UON Y

20057 grants / $689,488

Evolutionary algorithms for problems in functional genomics data analysis$218,000

Funding body: ARC (Australian Research Council)

Funding body ARC (Australian Research Council)
Project Team Professor Pablo Moscato, Professor Rodney Scott, Associate Professor Regina Berretta
Scheme Discovery Projects
Role Investigator
Funding Start 2005
Funding Finish 2005
GNo G0184416
Type Of Funding Aust Competitive - Commonwealth
Category 1CS
UON Y

Phenotype genotype comparisons using functional genomic approaches$110,000

Funding body: ARC (Australian Research Council)

Funding body ARC (Australian Research Council)
Project Team Professor Rodney Scott
Scheme Linkage Infrastructure Equipment & Facilities (LIEF)
Role Lead
Funding Start 2005
Funding Finish 2005
GNo G0185620
Type Of Funding Scheme excluded from IGS
Category EXCL
UON Y

Genetic polymorphisms in the native thrombolytic and thrombotic systems as risk factors for ischaemic stroke$106,488

Funding body: National Heart Foundation of Australia

Funding body National Heart Foundation of Australia
Project Team Conjoint Professor Chris Levi, Professor John Attia, Professor Rodney Scott, Dr Amanda Thrift
Scheme Grant-In-Aid
Role Investigator
Funding Start 2005
Funding Finish 2005
GNo G0184034
Type Of Funding Aust Competitive - Non Commonwealth
Category 1NS
UON Y

CGH array analysis of childhood cancers$75,000

Funding body: Cancer Institute NSW

Funding body Cancer Institute NSW
Project Team Professor Rodney Scott
Scheme Research Scholars Award
Role Lead
Funding Start 2005
Funding Finish 2005
GNo G0185377
Type Of Funding Contract - Aust Non Government
Category 3AFC
UON Y

The maintenance of genetic integrity by DNA repair$60,000

Funding body: Hunter Medical Research Institute

Funding body Hunter Medical Research Institute
Project Team Professor Rodney Scott
Scheme NBN Childrens Cancer Research Scholarship
Role Lead
Funding Start 2005
Funding Finish 2005
GNo G0185369
Type Of Funding Donation - Aust Non Government
Category 3AFD
UON Y

Genetic gains and losses associated with childhood cancer$60,000

Funding body: Hunter Medical Research Institute

Funding body Hunter Medical Research Institute
Project Team Professor Rodney Scott
Scheme NBN Childrens Cancer Research Scholarship
Role Lead
Funding Start 2005
Funding Finish 2005
GNo G0185374
Type Of Funding Donation - Aust Non Government
Category 3AFD
UON Y

Genetic determinants of gene expression$60,000

Funding body: Hunter Medical Research Institute

Funding body Hunter Medical Research Institute
Project Team Professor Rodney Scott
Scheme NBN Childrens Cancer Research Scholarship
Role Lead
Funding Start 2005
Funding Finish 2005
GNo G0185375
Type Of Funding Donation - Aust Non Government
Category 3AFD
UON Y

20043 grants / $259,337

Nature, nuture and acute childhood lymphoblastic leukaemia$193,500

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

Funding body NHMRC (National Health & Medical Research Council)
Project Team Professor Rodney Scott, Professor John Attia
Scheme Project Grant
Role Lead
Funding Start 2004
Funding Finish 2004
GNo G0183209
Type Of Funding Aust Competitive - Commonwealth
Category 1CS
UON Y

Molecular Pathogensis of Non-Eosinphilic Asthma$37,837

Funding body: Asthma Foundation of New South Wales

Funding body Asthma Foundation of New South Wales
Project Team Conjoint Professor Peter Gibson, Professor Rodney Scott, Doctor Katie Baines
Scheme PhD Scholarships
Role Investigator
Funding Start 2004
Funding Finish 2004
GNo G0183715
Type Of Funding Donation - Aust Non Government
Category 3AFD
UON Y

Novel genetic and environmental risk factors in atherothrombosis: The role of variation in Cox-2, tpA and PAI-1 activity$28,000

Funding body: Hunter Medical Research Institute

Funding body Hunter Medical Research Institute
Project Team Conjoint Professor Chris Levi, Conjoint Professor David Henry, Dr Patricia McGettigan, Professor John Attia, Professor Mark Parsons, Dr Michael Seldon, Professor Rodney Scott
Scheme Research Grant
Role Investigator
Funding Start 2004
Funding Finish 2004
GNo G0183749
Type Of Funding Contract - Aust Non Government
Category 3AFC
UON Y

20034 grants / $516,650

Non-eosinophilic asthma: mechanisms and treatment$430,000

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

Funding body NHMRC (National Health & Medical Research Council)
Project Team Conjoint Professor Peter Gibson, Conjoint Associate Professor Michael Boyle, Professor Rodney Scott
Scheme Project Grant
Role Investigator
Funding Start 2003
Funding Finish 2003
GNo G0181776
Type Of Funding Aust Competitive - Commonwealth
Category 1CS
UON Y

Continuing the search for the elusive caujavascript:closeProject();sjavascript:closeProject();es of autism$40,000

Funding body: Hunter Medical Research Institute

Funding body Hunter Medical Research Institute
Project Team Conjoint Professor Gillian Turner, Dr L Banna, Professor Rodney Scott, Ms Kerry Fagan
Scheme John Hunter Childrens Hospital Research Foundation
Role Investigator
Funding Start 2003
Funding Finish 2003
GNo G0183639
Type Of Funding Contract - Aust Non Government
Category 3AFC
UON Y

Sievers NOA 280i Nitric Oxide Analyser$36,650

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

Funding body NHMRC (National Health & Medical Research Council)
Project Team Conjoint Professor Peter Gibson, Conjoint Associate Professor Vicki Clifton, Conjoint Associate Professor Michael Boyle, Professor Rodney Scott
Scheme Equipment Grant
Role Investigator
Funding Start 2003
Funding Finish 2003
GNo G0183059
Type Of Funding Aust Competitive - Commonwealth
Category 1CS
UON Y

The role of MYH gene mutations in persons who have developed early onset colectoral cancer$10,000

Funding body: Hunter Medical Research Institute

Funding body Hunter Medical Research Institute
Project Team Professor Rodney Scott
Scheme Research Grant
Role Lead
Funding Start 2003
Funding Finish 2003
GNo G0183748
Type Of Funding Contract - Aust Non Government
Category 3AFC
UON Y

20028 grants / $1,341,332

The Molecular Analysis of Variation and Gene Function.$545,000

Funding body: ARC (Australian Research Council)

Funding body ARC (Australian Research Council)
Project Team Professor Rodney Scott, Laureate Professor John Aitken
Scheme Linkage Infrastructure Equipment & Facilities (LIEF)
Role Lead
Funding Start 2002
Funding Finish 2002
GNo G0181518
Type Of Funding Scheme excluded from IGS
Category EXCL
UON Y

Proteomic and Genomic Analysis Facility.$473,332

Funding body: Wellcome Trust

Funding body Wellcome Trust
Project Team Professor Alistair Sim, Emeritus Professor Peter Dunkley, Emeritus Professor John Rostas, Professor Rodney Scott, Emeritus Professor Leonie Ashman
Scheme Major Equipment Award
Role Investigator
Funding Start 2002
Funding Finish 2002
GNo G0181527
Type Of Funding Scheme excluded from IGS
Category EXCL
UON Y

A nested case control study evaluating the association between the factor V Leiden genotype and adverse pregnancy outcome$165,000

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

Funding body NHMRC (National Health & Medical Research Council)
Project Team Professor Rodney Scott
Scheme Project Grant
Role Lead
Funding Start 2002
Funding Finish 2002
GNo G0180916
Type Of Funding Aust Competitive - Commonwealth
Category 1CS
UON Y

The Genetics of Schizophrenia.$60,000

Funding body: Neuroscience Institute of Schizophrenia and Allied Disorders

Funding body Neuroscience Institute of Schizophrenia and Allied Disorders
Project Team Associate Professor Paul Tooney, Professor Rodney Scott
Scheme Postgraduate Research Scholarship
Role Investigator
Funding Start 2002
Funding Finish 2002
GNo G0182268
Type Of Funding Donation - Aust Non Government
Category 3AFD
UON Y

The role of tachykinins and their receptors in schizophrenia: An investigation at a cellular and genetic level.$60,000

Funding body: Neuroscience Institute of Schizophrenia and Allied Disorders

Funding body Neuroscience Institute of Schizophrenia and Allied Disorders
Project Team Associate Professor Paul Tooney, Conjoint Professor Loris Chahl, Professor Rodney Scott
Scheme Postgraduate Research Scholarship
Role Investigator
Funding Start 2002
Funding Finish 2002
GNo G0182269
Type Of Funding Donation - Aust Non Government
Category 3AFD
UON Y

The development of microarray technology for biomedical research in the Hunter Region.$21,000

Funding body: Hunter Medical Research Institute

Funding body Hunter Medical Research Institute
Project Team Associate Professor Paul Tooney, Doctor Douglas Dorahy, Professor Rodney Scott
Scheme Research Grant
Role Investigator
Funding Start 2002
Funding Finish 2002
GNo G0181184
Type Of Funding Contract - Aust Non Government
Category 3AFC
UON Y

The use of DNA arrays to determine genetic changes in cells that are deficient in nucleotide excision repair$10,000

Funding body: University of Newcastle

Funding body University of Newcastle
Project Team Professor Rodney Scott
Scheme Project Grant
Role Lead
Funding Start 2002
Funding Finish 2002
GNo G0181268
Type Of Funding Internal
Category INTE
UON Y

Development of a test to determine the functional activity of genes associated with bowel cancer predisposition$7,000

Funding body: University of Newcastle

Funding body University of Newcastle
Project Team Professor Rodney Scott, Conjoint Professor Allan Spigelman
Scheme Project Grant
Role Lead
Funding Start 2002
Funding Finish 2002
GNo G0181267
Type Of Funding Internal
Category INTE
UON Y

20011 grants / $40,000

The Genetic Origins of Childhood Cancer.$40,000

Funding body: John Hunter Children`s Hospital Research Foundation

Funding body John Hunter Children`s Hospital Research Foundation
Project Team Professor Rodney Scott, Professor John Attia, Doctor Frank Alvaro
Scheme Research Grant (Defunct)
Role Lead
Funding Start 2001
Funding Finish 2001
GNo G0181219
Type Of Funding Other Public Sector - State
Category 2OPS
UON Y

20002 grants / $182,505

Characterisation of Pituitary Target Autoantigens.$170,505

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

Funding body NHMRC (National Health & Medical Research Council)
Project Team Conjoint Associate Professor Patricia Crock, Professor Rodney Scott, Conjoint Associate Professor Bruce King
Scheme Project Grant
Role Investigator
Funding Start 2000
Funding Finish 2000
GNo G0178451
Type Of Funding Aust Competitive - Commonwealth
Category 1CS
UON Y

Characterization of a new genetic locus for inherited colorectal cancer predispositions$12,000

Funding body: University of Newcastle

Funding body University of Newcastle
Project Team Professor Rodney Scott, Conjoint Professor Allan Spigelman
Scheme Project Grant
Role Lead
Funding Start 2000
Funding Finish 2000
GNo G0178861
Type Of Funding Internal
Category INTE
UON Y

19994 grants / $417,608

MOLECULAR ANALYSIS OF CELL MOVEMENT IN MELANOMA$374,608

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

Funding body NHMRC (National Health & Medical Research Council)
Project Team Professor Gordon Burns, Conjoint Professor Peter Hersey, Professor Rodney Scott
Scheme Project Grant
Role Investigator
Funding Start 1999
Funding Finish 1999
GNo G0177914
Type Of Funding Aust Competitive - Commonwealth
Category 1CS
UON Y

Investigation of the cellular checkpoint proteins in desmoid tumour cells, derived from patients with familial adenomatous polyposis.$25,000

Funding body: Hunter Medical Research Institute

Funding body Hunter Medical Research Institute
Project Team Professor Rodney Scott, Doctor Benjamin Curry
Scheme Research Grant
Role Lead
Funding Start 1999
Funding Finish 1999
GNo G0179047
Type Of Funding Contract - Aust Non Government
Category 3AFC
UON Y

Frequency of mutant sperm in men of different ages.$11,000

Funding body: University of Newcastle

Funding body University of Newcastle
Project Team Conjoint Associate Professor Matthew Edwards, Professor Rodney Scott
Scheme Project Grant
Role Investigator
Funding Start 1999
Funding Finish 1999
GNo G0178153
Type Of Funding Internal
Category INTE
UON Y

The role of nonsense mediated mRNA decay in determining the disease phenotype in the inherited predisposition to colorectal cancer, familial adenomatous polypos$7,000

Funding body: University of Newcastle

Funding body University of Newcastle
Project Team Professor Rodney Scott
Scheme Project Grant
Role Lead
Funding Start 1999
Funding Finish 1999
GNo G0178126
Type Of Funding Internal
Category INTE
UON Y
Edit

Research Supervision

Number of supervisions

Completed36
Current24

Total current UON EFTSL

Masters1.25
PhD4.65

Current Supervision

Commenced Level of Study Research Title / Program / Supervisor Type
2015 PhD Epigenetics of Lung Cancer
Microbiology, Faculty of Health and Medicine, The University of Newcastle
Co-Supervisor
2015 Masters The Role of Genetics and the Gut Microbiome in Colorectal Cancer Diagnosis.
Health, Faculty of Health and Medicine, The University of Newcastle
Principal Supervisor
2015 Masters The Role of Genetics and the Gut Microbiome in Colorectal Cancer Diagnosis.
Health, Faculty of Health and Medicine, The University of Newcastle
Principal Supervisor
2015 PhD Investigating Novel Co-molecular Lesions of TP-53 in Serous Adeno Carcinomas and Their Role in DNA Damage
Medical Science, Faculty of Health and Medicine, The University of Newcastle
Co-Supervisor
2015 PhD To assess the role of IFNe in modulating innate immune responses and protecting against Chlamydia infection in human tissues
Microbiology, Faculty of Health and Medicine, The University of Newcastle
Co-Supervisor
2015 PhD Biomarkers for Circulating Ovarian Cancer Cells: A Prognostic and Therapeutic Approach
Medical Science, Faculty of Health and Medicine, The University of Newcastle
Co-Supervisor
2015 Masters The Role of Genetics and the Gut Microbiome in Colorectal Cancer Diagnosis.
Health, Faculty of Health and Medicine, The University of Newcastle
Principal Supervisor
2015 PhD Relationship of p53ß to Breast Cancer Progression
Health, Faculty of Health and Medicine, The University of Newcastle
Co-Supervisor
2014 PhD The Similarities and Differences of Genomic Re-Arrangements in Paediatric Verses Adult Haematological Malignancies
Health, Faculty of Health and Medicine, The University of Newcastle
Co-Supervisor
2014 Masters Investigating the Genetic Cause of Overgrowth Syndromes
Health, Faculty of Health and Medicine, The University of Newcastle
Principal Supervisor
2014 PhD To Be Advised
Human Biology, Faculty of Health and Medicine, The University of Newcastle
Co-Supervisor
2014 PhD Chronic Obstructive Pulmonary Disease (COPD)
Microbiology, Faculty of Health and Medicine, The University of Newcastle
Co-Supervisor
2013 PhD Nucleotide Excision Repair and UVB-Induced DNA Damage in Melanoma Development
Health, Faculty of Health and Medicine, The University of Newcastle
Co-Supervisor
2012 PhD Investigating the Mechanisms of Tobacco Cigarette Smoke-Induced Lung Cancer
Microbiology, Faculty of Health and Medicine, The University of Newcastle
Co-Supervisor
2012 PhD Examining Nucleotide Excision Repair Genes in Melanoma
Health, Faculty of Health and Medicine, The University of Newcastle
Co-Supervisor
2012 PhD p53 Isoforms in Breast Cancer
Health, Faculty of Health and Medicine, The University of Newcastle
Co-Supervisor
2012 PhD The Functional Role of MicroRNAs Associated With Lymph Node Metastasis in Triple Negative Breast Cancer
Health, Faculty of Health and Medicine, The University of Newcastle
Principal Supervisor
2012 PhD Genetic and Non-Genetic Studies of Type 2 Diabetes in Three Susceptible Asian Populations: Malay, Chinese and Indian
Health, Faculty of Health and Medicine, The University of Newcastle
Co-Supervisor
2012 PhD Assessing the Epigenetic Involvement in the Development and Progression of Chronic Obstructive Pulmonary Disease (COPD)
Microbiology, Faculty of Health and Medicine, The University of Newcastle
Co-Supervisor
2011 PhD Copy Number Variants and Their Role in Hereditary Breast and Colorectal Cancers
Health, Faculty of Health and Medicine, The University of Newcastle
Principal Supervisor
2010 PhD Epigenetic Variations and Psychosocial Parameters in Relapsing-Remitting Multiple Sclerosis
General Medicine, Faculty of Health and Medicine, The University of Newcastle
Co-Supervisor
2010 PhD Role of Tandem Repeats in Genetic Susceptibility to Breast Cancer
Health, Faculty of Health and Medicine, The University of Newcastle
Principal Supervisor
2009 PhD Epigenetic Regulation of the CRH Gene in Pregnancy
General Medicine, Faculty of Health and Medicine, The University of Newcastle
Co-Supervisor
2007 Honours Genetic Susceptibility to Meningococcal Disease in a Greek Population
Genetics, University of Newcastle
Co-Supervisor

Past Supervision

Year Level of Study Research Title / Program / Supervisor Type
2015 PhD ProNGF/NGF and Nerve Infiltration in Prostate and Breast Cancer
Medical Science, Faculty of Health and Medicine, The University of Newcastle
Co-Supervisor
2014 PhD The Contribution of Genetic Susceptibility to Breast Cancer
Health, Faculty of Health and Medicine, The University of Newcastle
Principal Supervisor
2014 Masters The Relationship Between Early Alzheimer's Disease, Apolipoprotein E Genotyping & Hippocampal MRI Volumes
Public Health, Faculty of Health and Medicine, The University of Newcastle
Co-Supervisor
2013 PhD The Complex Genetics of Multiple Sclerosis
Health, Faculty of Health and Medicine, The University of Newcastle
Principal Supervisor
2013 PhD Activating Kinase Mutations in Melanoma
Health, Faculty of Health and Medicine, The University of Newcastle
Principal Supervisor
2012 PhD Modifier Genes in Lynch Syndrome: Functional Genomics and its Consequence on Disease Expression
Health, Faculty of Health and Medicine, The University of Newcastle
Sole Supervisor
2011 PhD Microarray Studies of Genome-Wide Changes in Brain and Heart Gene Expression in Mouse Models of Iron Overload
Health, Faculty of Health and Medicine, The University of Newcastle
Co-Supervisor
2011 PhD Susceptibility to and Severity of Inflammatory-related Diseases in Indigenous Australians; An In Vitro Investigation of Associated Environmental and Genetic Risk Factors
Microbiology, Faculty of Health and Medicine, The University of Newcastle
Principal Supervisor
2011 PhD Mechanisms of Epigenetic Regulation of Gene Expression in Colorectal Cancer Cells
Health, Faculty of Health and Medicine, The University of Newcastle
Sole Supervisor
2011 Masters Epigenetic Modification in Human Male Germ Line
Health, Faculty of Health and Medicine, The University of Newcastle
Co-Supervisor
2010 PhD Autoantibody Targets in Autoimmune Polyendocrine Syndrome Type 1 and Lymphocytic Hypophysitis
General Medicine, Faculty of Health and Medicine, The University of Newcastle
Co-Supervisor
2009 PhD Genetic Variation and Risk of Endometrial Cancer
Health, Faculty of Health and Medicine, The University of Newcastle
Sole Supervisor
2009 PhD Genetic Variations in the Base Excision Repair Gene Mutyh and its Relationship with Two Common Malignancies
Health, Faculty of Health and Medicine, The University of Newcastle
Principal Supervisor
2008 PhD Molecular Pathogenesis of Non - Eosinophilic Asthma
Health, Faculty of Health and Medicine, The University of Newcastle
Co-Supervisor
2007 PhD Genetic Variation and Its Role in Malignancy
Health, Faculty of Health and Medicine, The University of Newcastle
Sole Supervisor
2006 PhD Investigation of Cellular and Molecular Changes in the Amygdala in Schizophrenia
Medical Science, Faculty of Health and Medicine, The University of Newcastle
Co-Supervisor
2006 Honours X chromosome inactivation patterns in mothers of autistic children and obligate carriers of X-linked mental retardation.
Genetics, University of Newcastle
Co-Supervisor
2006 PhD Gene Expression Profiling in Schizophrenia
Health, Faculty of Health and Medicine, The University of Newcastle
Principal Supervisor
2006 Honours APE and its role in DNA mismatch repair
Genetics, University of Newcastle
Sole Supervisor
2006 Honours Gene expression profiling in familial adenomatous polyposis and desmoid disease
Genetics, University of Newcastle
Sole Supervisor
2006 Honours The functional significance of 9 new SNPs identified in teh CRH gene
Genetics, University of Newcastle
Co-Supervisor
2004 Honours Polymorphisms in APC and their relation to site specific disease
Genetics, University of Newcastle
Sole Supervisor
2004 Honours DNMT3b mutation analysis in HNPCC patients
Genetics, University of Newcastle
Sole Supervisor
2004 Honours Modifier gene polymorphisms and their influence on disease expression in HNPCC
Genetics, University of Newcastle
Sole Supervisor
2004 Masters A molecular genetic study of modifier genes and their influence on disease expression in mutation positive HNPCC Patients
Genetics, University of Newcastle
Co-Supervisor
2003 Honours cytokine gene polymorphisms in sudden infant death syndrome (SIDS) and ethnic groups with varying incidences of SIDS
Genetics, University of Newcastle
Co-Supervisor
2002 Honours Screening a second candidate gene for Peutz-Jeghers syndrome
Genetics, University of Newcastle
Sole Supervisor
2002 Honours The role of PMS2 and EXO1 in defining HNPCC
Genetics, University of Newcastle
Sole Supervisor
2002 Honours Analysis of colorectal cancer cell lines using an integrated molecular cytogenetic approach
Genetics, University of Newcastle
Co-Supervisor
2001 Honours Nucleotide excision repair and UV-light sensitivity
Genetics, University of Newcastle
Sole Supervisor
2001 Honours Redefining the Peutz-Jeghers syndrome locus by fine mapping of the chromosome 19P region in the vicinity of the STK11 gene
Genetics, University of Newcastle
Sole Supervisor
2001 Honours Mental retardation may result from an abnormal copy number of the telomeric region of Xp: a study using Xp and Yp subtelomeric FISH probes.
Genetics, University of Newcastle
Consultant Supervisor
2001 Honours The hMSH6 gene and its association with disease expression in hereditary non-polyposis colorectal cancer
Genetics, University of Newcastle
Sole Supervisor
2001 Honours Mutation analysis of the BRCA2 gene in ocular melanoma
Genetics, University of Newcastle
Co-Supervisor
1999 Honours Development of a semi-functional yeast assasy for assigning a causative role to hMSH2 mutations in hereditary non-polyposis colorectal cancer
Genetics, University of Newcastle
Sole Supervisor
1998 Honours Mutation analysis of the MEN1 gene in apparent sporadic and familial cases of multiple endocrine neoplasia type 1
Genetics, University of Newcastle
Sole Supervisor
Edit

News

breast cancer gene breakthrough

Breast cancer gene breakthrough

February 24, 2015

Hunter researchers have identified a significant new risk factor for triple-negative breast cancer (TNBC), impacting women who would currently fall outside genetic testing benchmarks for the disease.

brain cancer biobank

Brain cancer biobank

October 29, 2014

A new "biobank" for brain cancer is being established at the Hunter Medical Research Institute courtesy of funding from the Mark Hughes Foundation (MHF).

schizophrenia

Landmark schizophrenia genetic study

July 23, 2014

UON researchers have helped unearth more than 100 genetic variants associated with schizophrenia, after contributing to the largest genome-wide study of the disease ever conducted.

Professor Rodney Scott

New sequencer turbo-charges cancer risk diagnosis

April 9, 2014

A HMRI genetics laboratory at Newcastle's John Hunter Hospital has become the first in Australia, and one of the few in the world, to receive accreditation for a new diagnostic system that revolutionises 'NextGen' DNA sequencing for breast and ovarian cancer.

HMRI

New study shows genetic role in education

May 31, 2013

A multinational consortium of medical researchers and social scientists has found a link between educational attainment and tiny variations in a person's genetic sequence.

Professor Rodney Scott

Position

Professor
School of Biomedical Sciences and Pharmacy
Faculty of Health and Medicine

Focus area

Medical Genetics

Contact Details

Email rodney.scott@newcastle.edu.au
Phone (02) 4921 4974
Mobile 0409926764
Fax (02) 4921 4253

Office

Building Hunter Area Pathology Service
Location Rm 2003, HAPS

,
Edit