Analysis of RAD51D in Ovarian Cancer Patients and Families with a History of Ovarian or Breast Cancer

• DOI: 10.1371/journal.pone.0054772
• Publication Date: 2013-01-25T17:18:44Z
• Authors: Ella R. Thompson; Simone M. Rowley; Sarah Sawyer; kConFab; Diana M. Eccles; Alison H. Trainer; Gillian Mitchell; Paul A. James; Ian G. Campbell
• Keywords: Cancer and Related Disorders; Science; Genes, BRCA2; Genes, BRCA1; 610; Loss of Heterozygosity; Breast Neoplasms; 618; 03 medical and health sciences; 0302 clinical medicine; Cancer Genetics; Humans; Family; Genetic Predisposition to Disease; Amino Acid Sequence; Germ-Line Mutation; Aged; Ovarian Neoplasms; Base Sequence; Q; R; 3. Good health; DNA-Binding Proteins; Mutation; Medicine; Female; Research Article

Mutations in RAD51D have been associated with an increased risk of hereditary ovarian cancer and although they observed the context breast families, association is unclear. The aim this current study was to validate reported assess for cancer. We screened mutations BRCA1/2 mutation-negative index cases from 1,060 familial and/or families (including 741 affected by only) 245 unselected cases. Exons containing novel non-synonymous variants were 466 controls. Two overtly deleterious identified among cancers (0.82%) but none detected families. Our data provide additional evidence that are enriched patients, extremely rare patients.