title: Analysis of RAD51C germline mutations in high-risk breast and ovarian cancer families and ovarian cancer patients.
abstract: 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.
authors: VBCRC Cancer Genetics Laboratory, Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia. ella.thompson@petermac.org
authors: Ella R
authors: ER
authors: Thompson
authors: Samantha E
authors: SE
authors: Boyle
authors: Julie
authors: J
authors: Johnson
authors: Georgina L
authors: GL
authors: Ryland
authors: Sarah
authors: S
authors: Sawyer
authors: David Y H
authors: DY
authors: Choong
authors: kConFab
authors: Georgia
authors: G
authors: Chenevix-Trench
authors: Alison H
authors: AH
authors: Trainer
authors: Geoffrey J
authors: GJ
authors: Lindeman
authors: Gillian
authors: G
authors: Mitchell
authors: Paul A
authors: PA
authors: James
authors: Ian G
authors: IG
authors: Campbell
mesh_terms: D000328:Adult; D001943:Breast Neoplasms / Q000235:genetics*; D015897:Comorbidity; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D018095:Germ-Line Mutation; D006801:Humans; D008875:Middle Aged; D020125:Mutation, Missense; D010051:Ovarian Neoplasms / Q000235:genetics*; D010375:Pedigree; D019683:Penetrance; D012307:Risk Factors
chemical_list: D004268:DNA-Binding Proteins; C448305:RAD51C protein, human