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

✍ Scribed by Ella R. Thompson; Samantha E. Boyle; Julie Johnson; Georgina L. Ryland; Sarah Sawyer; David Y.H. Choong; kConFab; Georgia Chenevix-Trench; Alison H. Trainer; Geoffrey J. Lindeman; Gillian Mitchell; Paul A. James; Ian G. Campbell

Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
180 KB
Volume
33
Category
Article
ISSN
1059-7794

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✦ Synopsis

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 first study of unselected patients diagnosed with ovarian cancer. Our data confirm 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.

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