Missed therapeutic and prevention opportunities in women with BRCA-mutated epithelial ovarian cancer and their families due to low referral rates for genetic counseling and BRCA testing: A review of the literature

CA Cancer J Clin. 2017 Nov;67(6):493-506. doi: 10.3322/caac.21408. Epub 2017 Sep 7.

Abstract

Answer questions and earn CME/CNE Fifteen percent of women with epithelial ovarian cancer have inherited mutations in the BRCA breast cancer susceptibility genes. Knowledge of her BRCA status has value both for the woman and for her family. A therapeutic benefit exists for the woman with cancer, because a new family of oral drugs, the poly ADP-ribose polymerase (PARP) inhibitors, has recently been approved, and these drugs have the greatest efficacy in women who carry the mutation. For her family, there is the potential to prevent ovarian cancer in those carrying the mutation by using risk-reducing surgery. Such surgery significantly reduces the chance of developing this, for the most part, incurable cancer. Despite these potential benefits, referral rates for genetic counseling and subsequent BRCA testing are low, ranging from 10% to 30%, indicating that these therapeutic and prevention opportunities are being missed. The authors have reviewed the relevant available literature. Topics discussed are BRCA and its relation to ovarian cancer, the rates of referral for genetic counseling/BRCA testing, reasons for these low rates, potential strategies to improve on those rates, lack of effectiveness of current screening strategies, the pros and cons of risk-reducing surgery, other prevention options, and the role and value of PARP inhibitors. CA Cancer J Clin 2017;67:493-506. © 2017 American Cancer Society.

Keywords: BRCA testing; poly ADP-ribose polymerase (PARP) inhibitors. prevention; therapy.

Publication types

  • Review

MeSH terms

  • Female
  • Genes, BRCA1*
  • Genes, BRCA2*
  • Genetic Counseling*
  • Genetic Predisposition to Disease
  • Genetic Testing*
  • Germ-Line Mutation
  • Humans
  • Ovarian Neoplasms / drug therapy
  • Ovarian Neoplasms / genetics*
  • Ovarian Neoplasms / prevention & control
  • Ovarian Neoplasms / surgery
  • Poly(ADP-ribose) Polymerase Inhibitors / therapeutic use
  • Referral and Consultation*

Substances

  • Poly(ADP-ribose) Polymerase Inhibitors