Management of genetic syndromes predisposing to gynecologic cancers

Women with personal and family histories consistent with gynecologic cancer-associated hereditary cancer susceptibility disorders should be referred for genetic risk assessment and counseling. Genetic counseling facilitates informed medical decision making regarding genetic testing, screening, and treatment, including chemoprevention and risk-reducing surgery. Because of limitations of ovarian cancer screening, hereditary breast and ovarian cancer-affected women are offered risk-reducing bilateral salpingo-oophorectomy (BSO) between ages 35 and 40 years, or when childbearing is complete. Women with documented Lynch syndrome, associated with mutations in mismatch repair genes, should be screened at a young age and provided prevention options, including consideration of risk-reducing total abdominal hysterectomy and BSO, as well as intensive gastrointestinal screening. Clinicians caring for high-risk women must consider the potential adverse ethical, legal, and social issues associated with hereditary cancer risk assessment and testing. Additionally, at-risk family members should be alerted to their cancer risks, as well as the availability of risk assessment, counseling, and treatment services.