Ovarian cancer associated with inherited mutations in BRCA1 or BRCA2.
Most hereditary ovarian cancers are associated with germline mutations in the BRCA1 or BRCA2 genes. These genes are involved in many vital cellular functions, including DNA damage recognition, DNA repair, and control of transcription. Prophylactic oophorectomy is the most effective method of reducing ovarian cancer risk in women known to carry BRCA1 or BRCA2 mutations. Women with BRCA1-associated ovarian cancers seem to have a somewhat better survival than women with sporadic ovarian cancer. Loss of BRCA1 function may impact response to chemotherapy via effects on DNA damage response. Research priorities include designing functional tests for BRCA1 and BRCA2, understanding the impact of BRCA1 and BRCA2 mutations on response to specific cancer therapies, and development of innovative cancer prevention strategies in women with BRCA1 and BRCA2 mutations.
Swisher
Elizabeth
E
Department of Obstetrics and Gynecology, University of Washington, 1959 NE Pacific, Box 356460, Seattle 98195, USA. swishere@u.washington.edu
D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006801:Humans; D010051:Ovarian Neoplasms / Q000235:genetics* / Q000401:mortality / Q000628:therapy; D015996:Survival Rate