Germline BRCA1/2 mutation testing is indicated in every patient with epithelial ovarian cancer: A systematic review

Eur J Cancer. 2016 Jul:61:137-45. doi: 10.1016/j.ejca.2016.03.009. Epub 2016 May 19.

Abstract

The presence of a germline BRCA1/2 mutation improves options for tailored risk-reducing strategies and treatment in both breast and ovarian cancer patients and their relatives. Currently, referral for germline BRCA1/2 mutation testing of women with epithelial ovarian cancer (EOC) varies widely, based on different criteria, such as age of onset, family history of breast and/or ovarian cancer and histological type of EOC. The overall probability of a germline BRCA1/2 mutation in women with EOC is above 10%, and a substantial part of the germline BRCA1/2 mutation carriers is missed when applying these criteria for referral. Therefore, we strongly recommend referral of all women with EOC for genetic counselling and DNA analysis.

Keywords: BRCA mutation; Epithelial ovarian cancer; Genetic testing; Probability; Referral.

Publication types

  • Review
  • Systematic Review

MeSH terms

  • Age of Onset
  • BRCA1 Protein / genetics*
  • BRCA2 Protein / genetics*
  • Carcinoma, Ovarian Epithelial
  • Female
  • Genes, BRCA1*
  • Genes, BRCA2*
  • Genetic Testing*
  • Germ-Line Mutation*
  • Humans
  • Neoplasms, Glandular and Epithelial / genetics*
  • Ovarian Neoplasms / genetics*
  • Risk Factors

Substances

  • BRCA1 Protein
  • BRCA1 protein, human
  • BRCA2 Protein
  • BRCA2 protein, human