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

Human mutation - 1 Jan 2012

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

Abstract excerpt

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...

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PMID: 21990120
DOI: 10.1002/humu.21625

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