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

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