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

AUTHOR GROUP, J. van Wijnen, P. Devilee, M.J. Blok, T. Heikkinen, H. Nevanlinna, A. Jakubowska, J. Lubinski, T. Huzarski, T. Byrski, F. Durocher, F.J. Couch, N.M. Lindor, X.S. Wang, M. Thomassen, S. Domchek, K. Nathanson, M.A. Caligo, H. Jernstrom, A. LiljegrenH. Ehrencrona, P.K. For, P.A. Ganz, O.I. Olopade, G. Tomlinson, S. Neuhausen, A.C. Antoniou, G. Chenevix-Trench, T.R. Rebbeck

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13 Citations (Scopus)


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. 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. 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. 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. 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
Original languageEnglish
Pages (from-to)1032-1038
JournalCancer epidemiology, biomarkers & prevention
Issue number5
Publication statusPublished - 2011

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