- This evidence-based review addresses management for people with inherited pathogenic genetic variants associated with increased risk for gynecologic cancer.
Why this matters
- With the advance of genetic testing for certain pathogenic variants associated with increased risk for gynecologic cancer, guidance is needed to optimize care in this unique population.
- By the age of 70 years, BReast CAncer gene 1 (BRCA1) carriers have a 39%-46% chance of developing ovarian cancer, and BRCA2 carriers have a 10%-27% chance.
- Currently, risk-reducing surgery (salpingo-oophorectomy) is recommended at the age of 35-45 years or when childbearing is complete.
- Surveillance: few options, consider serial transvaginal ultrasound and CA-125.
- Chemoprevention: oral contraceptive pills reduce the risk for ovarian cancer by 50%.
- Risk-reducing surgical options: salpingo-oophorectomy reduces the risk by 70%-85%.
- Fertility preservation: consider oocyte preservation, embryo preservation, donor oocytes, gestational carriers, and adoption if undergoing surgical premature menopause.
- Genetic testing of embryos: prior to embryo transfer.
- Hormone replacement therapy can be considered for women with premature surgical menopause.
- Collaboration between gynecologic oncologists and reproductive endocrinologists will advance and improve quality of care.
- Evidence-based review and recommendations.
- Funding: None disclosed.
- Based on current evidence, the recommendations may change.