ACOG Updates Guidelines for Management of Hereditary Breast and Ovarian Cancer Syndrome

September 1, 2017

ACOG Updates Guidelines for Management of Hereditary Breast and Ovarian Cancer Syndrome

  1. Andrew M. Kaunitz, MD

Obstetrician-gynecologists play key roles, but should consider referral to a genetic specialist as necessary.

  1. Andrew M. Kaunitz, MD

Sponsoring Organization: American College of Obstetricians and Gynecologists (ACOG)

Target Population: Women's healthcare providers

Background and Objective

BRCA1 and BRCA2 mutations account for 4% of breast cancer cases and up to 24% of epithelial ovarian cancer cases, making these mutations the most common cause of hereditary breast and ovarian cancer syndrome. Estimated risk for breast cancer by age 70 is 45% to 85% (BRCA1 or 2) and, for ovarian cancer, 39% to 46% (BRCA1) or 10% to 27% (BRCA2). Prevalence of BRCA mutations is relatively high in certain populations (e.g., 1 in 40 among Ashkenazi Jews of European ancestry). Now, ACOG has updated its guidance for assessing and managing hereditary breast and ovarian cancer.

Key Recommendations

  • Genetic counseling should be offered to all women with epithelial ovarian cancer (including fallopian tube and primary peritoneal cancer).

  • Genetic testing should be offered when counseling indicates an inherited cancer syndrome.

  • In BRCA mutation carriers and women with personal or family histories of ovarian cancer, routine screening with CA 125 measurement or transvaginal ultrasound is not recommended.

  • Breast cancer surveillance for mutation carriers is age-dependent.

    • 25–29: clinical breast examination every 6 to 12 months and breast imaging annually (optimally, magnetic resonance imaging [MRI] with contrast).

    • ≥30: annual mammography and MRI, alternating every 6 months.

  • BRCA mutation carriers should be offered risk-reducing bilateral mastectomy and bilateral salpingo-oophorectomy (the latter is recommended at age 35–40 [BRCA1] or age 40–45 [BRCA2]).

Comment

ACOG advises that genetic counseling should precede genetic testing. Such counseling should include pedigree and risk assessment and, to guide informed consent, information about benefits, harms, and possible outcomes of genetic testing. In addition, counseling should address the implications of disclosure or nondisclosure of results to family members. Clinicians without the required expertise in cancer genetics should refer patients to a genetic counselor (as I do in my practice). If in-person counseling is not available, qualified telephone-based services represent another good option (J Clin Oncol 2016; 34:2914).

Editor Disclosures at Time of Publication

  • Disclosures for Andrew M. Kaunitz, MD at time of publication Consultant / Advisory board Allergan; Bayer AG; Merck; Mithra; Pfizer; Shionogi Royalties UpToDate Grant / Research support Therapeutics MD; Bayer; Agile; Merck; Millendo; Mithra Editorial boards Contraception; Menopause; Contraceptive Technology Update; OBG Management; Medscape OB/GYN & Women’s Health Leadership positions in professional societies North American Menopause Society (Board of Trustees)

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