The clinical management of BRCA1 and BRCA2 mutation carriers.
Mutations in the cancer susceptibility genes BRCA1 and BRCA2 are associated with significantly increased risks of breast and ovarian cancer. Fortunately, effective strategies are available to reduce these risks, including genetic testing, which is an important consideration in determining management of patients with a strong family history of cancer. This article reviews the current evidence for risk-reducing strategies in BRCA1 and BRCA2 mutation carriers and outlines future research directions. In particular, screening controversies and current guidelines are discussed, as are issues related to prophylactic mastectomy and oophorectomy.
Gulati
Anthony P
AP
Cancer Risk Evaluation Program, University of Pennsylvania, Abramson Cancer Center, 14 Penn Tower, 3400 Spruce Street, Philadelphia, PA 19104, USA.
Domchek
Susan M
SM
D016588:Anticarcinogenic Agents / Q000627:therapeutic use; D001943:Breast Neoplasms / Q000175:diagnosis / Q000209:etiology* / Q000628:therapy*; D018890:Chemoprevention; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006801:Humans; D008403:Mass Screening; D008408:Mastectomy; D010051:Ovarian Neoplasms / Q000175:diagnosis / Q000209:etiology* / Q000628:therapy*; D010052:Ovariectomy; D040242:Risk Reduction Behavior
D016588:Anticarcinogenic Agents