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Analysis of RAD51C Germline Mutations in High-Risk Breast and Ovarian Cancer Families and Ovarian Cancer Patients


Thompson, ER; Boyle, SE; Johnson, J; Ryland, GL; Sawyer, S; Choong, DYH; Chenevix-Trench, G; Trainer, AH; Lindeman, GJ; Mitchell, G; James, PA; Campbell, IG
2012-01
HUMAN MUTATION
Journal Article
33
1
95-99
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. Hum Mutat 33:95-99, 2012. (C) 2011 Wiley Periodicals, Inc.
WILEY-BLACKWELL
SUSCEPTIBILITY GENE; FANCONI-ANEMIA; COPY NUMBER; PALB2; HETEROZYGOSITY; GENOME; BRIP1
Stem Cells and Cancer
10.1002/humu.21625
© 2011 Wiley Periodicals, Inc.

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Creation Date 2012-01-01 12:00:00