Human mutation · 2011
Analysis of RAD51C germline mutations in high-risk breast and ovarian cancer families and ovarian cancer patients.
СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Thompson Ella R, Boyle Samantha E, Johnson Julie, Ryland Georgina L, Sawyer Sarah, Choong David Y H, kConFab, Chenevix-Trench Georgia, Trainer Alison H, Lindeman Geoffrey J, Mitchell Gillian, James Paul A, Campbell Ian G
Аннотация
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.