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. 2011 May;20(5):1032-8.
doi: 10.1158/1055-9965.EPI-10-0909. Epub 2011 Mar 10.

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

Amanda B Spurdle  1 , Louise Marquart, Lesley McGuffog, Sue Healey, Olga Sinilnikova, Fei Wan, Xiaoqing Chen, Jonathan Beesley, Christian F Singer, Anne-Catharine Dressler, Daphne Gschwantler-Kaulich, Joanne L Blum, Nadine Tung, Jeff Weitzel, Henry Lynch, Judy Garber, Douglas F Easton, Susan Peock, Margaret Cook, Clare T Oliver, Debra Frost, Don Conroy, D Gareth Evans, Fiona Lalloo, Ros Eeles, Louise Izatt, Rosemarie Davidson, Carol Chu, Diana Eccles, Christina G Selkirk, Mary Daly, Claudine Isaacs, Dominique Stoppa-Lyonnet, Olga M Sinilnikova, Bruno Buecher, Muriel Belotti, Sylvie Mazoyer, Laure Barjhoux, Carole Verny-Pierre, Christine Lasset, Hélène Dreyfus, Pascal Pujol, Marie-Agnès Collonge-Rame; GEMO Study Collaborators; Matti A Rookus, Senno Verhoef, Mieke Kriege, Nicoline Hoogerbrugge, Margreet G E M Ausems, Theo A van Os, Juul Wijnen, Peter Devilee, Hanne E J Meijers-Heijboer, Marinus J Blok, Tuomas Heikkinen, Heli Nevanlinna, Anna Jakubowska, Jan Lubinski, Tomasz Huzarski, Tomasz Byrski, Francine Durocher, Fergus J Couch, Noralane M Lindor, Xianshu Wang, Mads Thomassen, Susan Domchek, Kate Nathanson, Ma Caligo, Helena Jernström, Annelie Liljegren, Hans Ehrencrona, Per Karlsson; SWE-BRCA; Patricia A Ganz, Olufunmilayo I Olopade, Gail Tomlinson, Susan Neuhausen, Antonis C Antoniou, Georgia Chenevix-Trench, Timothy R Rebbeck
Collaborators, Affiliations

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

Amanda B Spurdle et al. Cancer Epidemiol Biomarkers Prev. 2011 May.

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.

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