BRCA positive: what comes next?

  • Chen LM & al.
  • Fertil Steril
  • 3 Oct 2019

  • International Clinical Digest
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Takeaway

  • 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.

Key results

  • 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.

Study design

  • Evidence-based review and recommendations.
  • Funding: None disclosed.

Limitations

  • Based on current evidence, the recommendations may change.

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