Analysis of RAD51C germline mutations in high-risk breast and ovarian cancer families and ovarian cancer patients

Ella R Thompson, Samantha E Boyle, Julie Johnson, Georgina L Ryland, Sarah Sawyer, David YH Choong, Georgia Chenevix-Trench, Alison H Trainer, Geoffery J Lindeman, Gillian Mitchell, Paul A James, Ian G Campbell

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There is strong evidence that overtly inactivating mutations in RAD51C predispose to hereditary breast and ovarian cancer but the prevalence of such mutations, and whether they are associated with a particular clinical phenotype, remains unclear. Resolving these questions has important implications for the implementation of RAD51C into routine clinical genetic testing. Consequently, we have performed a large RAD51C mutation screen of hereditary breast and ovarian cancer families, and the ?rst study of unselected patients diagnosed with ovarian cancer. Our data con?rm a consistent but low frequency (2/335 families) of inactivating RAD51C mutations among families with a history of both breast and ovarian cancer and an absence of mutations among breast cancer only families (0/1,053 families). Our data also provide support for the designation of the missense variant p.Gly264Ser as a moderate penetrance allele.
Original languageEnglish
Pages (from-to)95 - 99
Number of pages5
JournalHuman Mutation
Issue number1
Publication statusPublished - 2012

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