Identification of a BRCA1 or BRCA2 mutation warrants more intensive surveillance and more aggressive management due to the increased risk for a cancer that typically causes few symptoms in the early stages. There is evidence that risk-reducing oophorectomy reduces the incidence of ovarian cancer substantially in mutation carriers [42–44], although the risk of peritoneal cancer remains at about 2 % after surgery [45, 46].

For women with a mutation, the NCCN has specific recommendations [47]. For prevention or early detection of breast or ovarian cancer, these recommendations include: (1) breast self-exam and education starting at age 18; (2) clinical breast exam every 6–12 months starting at age 25; (3) annual mammogram and breast magnetic resonance imaging screening starting at age 25 or earlier based on the earliest age of onset of breast cancer in the family; (4) a discussion of prophylactic mastectomy; (5) risk-reducing salpingo-oophorectomy, ideally between ages 35 and 40 and after childbearing is complete or earlier based on the earliest age of onset of ovarian cancer in the family; (6) for those not electing risk-reducing salpingo-oophorectomy, the recommendation is transvaginal ultrasound, preferably during days 1–10 of menstrual cycle in premenopausal women, plus cancer antigen 125 (CA-125) measurements (preferably after day 5 of the menstrual cycle in premenopausal woman) every 6 months starting at age 35 or 5–10 years before the earliest age of first diagnosis of ovarian cancer in the family; (7) consideration of chemoprevention (e.g., tamoxifen, raloxifene, exemestane); and (8) considering investigational imaging and screening studies when available in the context of a clinical trial. Regarding the salpingo-oophorectomy recommendation, NCCN Guidelines state: “Counseling includes a discussion of reproductive desires, extent of cancer risk, degree of protection for breast and ovarian cancer, management of menopausal symptoms, possible short term hormone replacement therapy (HRT) to a recommended maximum age of natural menopause, and related medical issues” [5]. There is no evidence that transvaginal ultrasound and serum CA-125 measurements reduce ovarian cancer mortality [48, 49].

Research studies have shown that oral contraceptive use is associated with a decreased risk for ovarian cancer among women with a germline BRCA1 or BRCA2 mutation [50]. Longer use of oral contraceptives was associated with a greater reduction in ovarian cancer incidence [51].

If a mutation is identified in any man or woman, there is a 50 % chance of passing on that mutation to any child they have. If the potential parent does not want to pass on the mutation to the next generation, prenatal diagnosis and preimplantation genetic diagnosis are technically possibly but rarely requested in clinical practice and beyond the scope of this chapter.