NDLI: Common genetic variation at BARD1 is not associated with breast cancer risk in BRCA1 or BRCA2 mutation carriers.

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Common genetic variation at BARD1 is not associated with breast cancer risk in BRCA1 or BRCA2 mutation carriers.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Spurdle, Amanda B. Marquart, Louise McGuffog, Lesley Healey, Sue Sinilnikova, Olga Wan, Fei Chen, Xiaoqing Beesley, Jonathan Singer, Christian F. Dressler, Anne-Catharine Gschwantler-Kaulich, Daphne Blum, Joanne L. Tung, Nadine Weitzel, Jeff Lynch, Henry Garber, Judy Easton, Douglas F. Peock, Susan Cook, Margaret Oliver, Clare T. Frost, Debra Conroy, Don Evans, D. Gareth Lalloo, Fiona Eeles, Ros Izatt, Louise Davidson, Rosemarie Chu, Carol Eccles, Diana Selkirk, Christina G. Daly, Mary Isaacs, Claudine Stoppa-Lyonnet, Dominique Sinilnikova, Olga M. Buecher, Bruno Belotti, Muriel Mazoyer, Sylvie Barjhoux, Laure Verny-Pierre, Carole Lasset, Christine Dreyfus, Hélène Pujol, Pascal Collonge-Rame, Marie-Agnès Rookus, Matti A. Verhoef, Senno Kriege, Mieke Hoogerbrugge, Nicoline Ausems, Margreet G. E. M. Van Os, Theo A. Wijnen, Juul
Description	Country affiliation: Australia Author Affiliation: Spurdle AB ( QueenslanInstitute for Medical Research, Brisbane, Australia.)
Abstract	BACKGROUND: Inherited BRCA1 and BRCA2 (BRCA1/2) mutations confer elevated breast cancer risk. Knowledge of factors that can improve breast cancer risk assessment in BRCA1/2 mutation carriers may improve personalized cancer prevention strategies. METHODS: A cohort of 5,546 BRCA1 and 2,865 BRCA2 mutation carriers was used to evaluate risk of breast cancer associated with BARD1 Cys557Ser. In a second nonindependent cohort of 1,537 of BRCA1 and 839 BRCA2 mutation carriers, BARD1 haplotypes were also evaluated. RESULTS: The BARD1 Cys557Ser variant was not significantly associated with risk of breast cancer from single SNP analysis, with a pooled effect estimate of 0.90 (95% CI: 0.71-1.15) in BRCA1 carriers and 0.87 (95% CI: 0.59-1.29) in BRCA2 carriers. Further analysis of haplotypes at BARD1 also revealed no evidence that additional common genetic variation not captured by Cys557Ser was associated with breast cancer risk. CONCLUSION: Evidence to date does not support a role for BARD1 variation, including the Cy557Ser variant, as a modifier of risk in BRCA1/2 mutation carriers. IMPACT: Interactors of BRCA1/2 have been implicated as modifiers of BRCA1/2-associated cancer risk. Our finding that BARD1 does not contribute to this risk modification may focus research on other genes that do modify BRCA1/2-associated cancer risk.
File Format	HTM / HTML
ISSN	10559965
e-ISSN	15387755
DOI	10.1158/1055-9965.EPI-10-0909
Journal	Cancer Epidemiology Biomarkers & Prevention
Issue Number	5
Volume Number	20
Language	English
Publisher	American Association for Cancer Research
Publisher Date	2011-05-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Discipline Cancer epidemiology Brca1 Protein Genetics Brca2 Protein Breast Neoplasms Genetic Predisposition To Disease Germ-line Mutation Polymorphism, Single Nucleotide Tumor Suppressor Proteins Ubiquitin-protein Ligases Tumor Markers, Biological Pathology Cohort Studies Genotype Heterozygote Prognosis Risk Factors Research Support, N.i.h., Extramural Research Support, Non-u.s. Gov't
Content Type	Text
Resource Type	Article
Subject	Epidemiology Oncology

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Common genetic variation at BARD1 is not associated with breast cancer risk in BRCA1 or BRCA2 mutation carriers.