| 2016 |
Sjursen W, McPhillips M, Scott RJ, Talseth-Palmer BA, 'Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations.', Molecular genetics & genomic medicine, 4 223-231 (2016) [C1]
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| 2016 |
Talseth-Palmer BA, Bauer DC, Sjursen W, Evans TJ, McPhillips M, Proietto A, et al., 'Targeted next-generation sequencing of 22 mismatch repair genes identifies Lynch syndrome families.', Cancer Med, 5 929-941 (2016)
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| 2016 |
Masson AL, Talseth-Palmer BA, Evans TJ, McElduff P, Spigelman AD, Hannan GN, Scott RJ, 'Copy number variants associated with 18p11.32, DCC and the promoter 1B region of APC in colorectal polyposis patients', Meta Gene, 7 95-104 (2016)
© 2016 .Familial Adenomatous Polyposis (FAP) is the second most common inherited predisposition to colorectal cancer (CRC) associated with the development of hundreds to thousand... [more] © 2016 .Familial Adenomatous Polyposis (FAP) is the second most common inherited predisposition to colorectal cancer (CRC) associated with the development of hundreds to thousands of adenomas in the colon and rectum. Mutations in APC are found in ~. 80% polyposis patients with FAP. In the remaining 20% no genetic diagnosis can be provided suggesting other genes or mechanisms that render APC inactive may be responsible. Copy number variants (CNVs) remain to be investigated in FAP and may account for disease in a proportion of polyposis patients. A cohort of 56 polyposis patients and 40 controls were screened for CNVs using the 2.7M microarray (Affymetrix) with data analysed using ChAS (Affymetrix). A total of 142 CNVs were identified unique to the polyposis cohort suggesting their involvement in CRC risk. We specifically identified CNVs in four unrelated polyposis patients among CRC susceptibility genes APC, DCC, MLH1 and CTNNB1 which are likely to have contributed to disease development in these patients. A recurrent deletion was observed at position 18p11.32 in 9% of the patients screened that was of particular interest. Further investigation is necessary to fully understand the role of these variants in CRC risk given the high prevalence among the patients screened.
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| 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]
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| 2014 |
Masson AL, Talseth-Palmer BA, Evans TJ, Grice DM, Hannan GN, Scott RJ, 'Expanding the genetic basis of copy number variation in familial breast cancer', Hereditary Cancer in Clinical Practice, 12 (2014) [C1]
Introduction: Familial breast cancer (fBC) is generally associated with an early age of diagnosis and a higher frequency of disease among family members. Over the past two decades... [more] Introduction: Familial breast cancer (fBC) is generally associated with an early age of diagnosis and a higher frequency of disease among family members. Over the past two decades a number of genes have been identified that are unequivocally associated with breast cancer (BC) risk but there remain a significant proportion of families that cannot be accounted for by these genes. Copy number variants (CNVs) are a form of genetic variation yet to be fully explored for their contribution to fBC. CNVs exert their effects by either being associated with whole or partial gene deletions or duplications and by interrupting epigenetic patterning thereby contributing to disease development. CNV analysis can also be used to identify new genes and loci which may be associated with disease risk.Methods: The Affymetrix Cytogenetic Whole Genome 2.7 M (Cyto2.7 M) arrays were used to detect regions of genomic re-arrangement in a cohort of 129 fBC BRCA1/BRCA2 mutation negative patients with a young age of diagnosis (<50 years) compared to 40 unaffected healthy controls (>55 years of age).Results: CNV analysis revealed the presence of 275 unique rearrangements that were not present in the control population suggestive of their involvement in BC risk. Several CNVs were found that have been previously reported as BC susceptibility genes. This included CNVs in RPA3, NBN (NBS1), MRE11A and CYP19A1 in five unrelated fBC patients suggesting that these genes are involved in BC initiation and/or progression. Of special interest was the identification of WWOX and FHIT rearrangements in three unrelated fBC patients.Conclusions: This study has identified a number of CNVs that potentially contribute to BC initiation and/or progression. The identification of CNVs that are associated with known tumour suppressor genes is of special interest that warrants further larger studies to understand their precise role in fBC. © 2014 Masson et al.; licensee BioMed Central Ltd.
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| 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]
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| 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]
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| 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]
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| 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]
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| 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]
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| 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]
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| 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]
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| 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]
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| 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]
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| 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]
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| 2011 |
Talseth-Palmer B, Scott R, 'Genetic variation and its role in malignancy', International Journal of Biomedical Science, 7 158-171 (2011) [C1]
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| 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]
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| 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]
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| 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]
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| 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]
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| 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]
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| 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]
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| 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]
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| 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]
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| 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]
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| 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]
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| 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]
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| 2004 |
Holopainen P, Naluai AT, Moodie S, Percopo S, Coto I, Clot F, et al., 'Candidate gene region 2q33 in European families with coeliac disease', Tissue Antigens, 63 212-222 (2004)
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| 2003 |
Karell K, Louka AS, Moodie SJ, Ascher H, Clot F, Greco L, et al., 'Hla types in celiac disease patients not carrying the DQA1*05-DQB1*02 (DQ2) heterodimer: results from the european genetics cluster on celiac disease', Human Immunology, 64 469-477 (2003)
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| 2003 |
Louka AS, Lie BA, Talseth B, Ascher H, Ek J, Gudjonsdottir AH, Sollid LM, 'Coeliac disease patients carry conserved HLA-DR3-DQ2 haplotypes revealed by association of TNF alleles', Immunogenetics, 55 339-343 (2003) [C1]
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| 2003 |
Louka AS, Moodie SJ, Karell K, Bolognesi E, Ascher H, Greco L, et al., 'A collaborative European search for non-DQA1 *05-DQB1 *02 Celiac disease loci on HLA-Dr3 haplotypes: Analysis of transmission from homozygous parents', Human Immunology, 64 350-358 (2003)
The HLA-DQA1 *05 with DQB1 *02 alleles are a major risk factor for celiac disease (CD). To search for additional human leukocyte antigen (HLA) risk factors, we looked on the DR3-D... [more] The HLA-DQA1 *05 with DQB1 *02 alleles are a major risk factor for celiac disease (CD). To search for additional human leukocyte antigen (HLA) risk factors, we looked on the DR3-DQ2 risk haplotype, selected because it carries both DQ risk alleles in cis and is the more represented among CD patients. In a European consortium, we identified 109 families with a parent homozygous for DQA1 *05-DQB1 *02. We typed ten microsatellites in the extended HLA complex, and applied the homozygous-parent transmission disequilibrium test (HPTDT) and extended-TDT to transmissions from homozygous parents. These methods eliminate confounding due to linkage disequilibrium between candidate disease loci and the known risk factor DQA1 *05-DQB1 *02, and are favorable when sufficient families are available. We did not find evidence of association with any single market or allele, although weak evidence for additional risk was observed, represented by preferential transmission of six adjacent markers. We tested the largest ever reported HPTDT population in CD, providing unprecedented power. We did not find significant evidence of additional risk-modifying factors on the DR3 haplotype, independent of DQA1 *05-DQB1 *02, although a weak tendency was observed for the B8-DR3 haplotype. This effect should be tested in large populations with significant representations of both B8-DR3 and non-B8 DR3 haplotypes. © American Society for Histocompatibility and Immunogenetics, 2003. Published by Elsevier Science Inc.
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| 2003 |
Babron MC, Nilsson S, Adamovic S, Naluai AT, Wahlström J, Ascher H, et al., 'Meta and pooled analysis of European coeliac disease data', European Journal of Human Genetics, 11 828-834 (2003)
Four full genome scans have been carried out by the partners of the European cluster on coeliac disease as well as follow-up studies of candidate regions. No region outside HLA sh... [more] Four full genome scans have been carried out by the partners of the European cluster on coeliac disease as well as follow-up studies of candidate regions. No region outside HLA showed significant linkage to the disease in any single study. We first applied a meta-analysis based on a modification of Genome Screen Meta-Analysis to take into account the different linkage statistics, the arbitrariness of bin cutoff points, as well as the sample size of each study. We then performed a pooled linkage analysis of all families and raw genotypes. Besides the HLA region, already known to harbour a risk factor for coeliac disease, both approaches leave very little doubt on the presence of a genetic risk factor in the 5q31-33 region. This region was suggested by several individual studies, but did not reach statistical values high enough to be conclusive when data sets were analysed separately.
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| 2002 |
Louka A, Nilsson S, Olsson M, Talseth B, Lie B, Ek J, et al., 'HLA in coeliac disease families: a novel test of risk modification by the 'other' haplotype when at least one DQA1*05-DQB1*02 haplotype is carried. (2002) [C1]
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| 2001 |
Kristinsson S, Thorolfsdottir E, Talseth B, Steingrimsson E, Thorsson A, Helgason T, et al., 'MODY in Iceland is associated with mutations in HNF-1alpha and a novel mutation in NeuroD1. (2001) [C1]
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