Hereditary Ovarian Cancer—Assessing Risk and Prevention Strategies

Hereditary ovarian cancers are almost entirely attributable to mutations in BRCA1/2 or the genes of DNA mismatch repair. Identifying individuals at risk requires a complete family history and evidence-guided genetic testing. Screening of women at increased risk for ovarian cancer can be considered in those not wishing prophylactic surgery and typically should include a twice-annual pelvic examination, serum CA-125 measurement, and transvaginal sonography. Patients must understand that these measures have not been conclusively proven to improve early detection or long-term survival. In all mutation carriers who have completed or do not desire childbearing, prophylactic bilateral salpingo-oophorectomy must be strongly considered.