Genetic testing for epithelial ovarian cancer

Best Pract Res Clin Obstet Gynaecol. 2020 May;65:125-138. doi: 10.1016/j.bpobgyn.2020.01.005. Epub 2020 Jan 16.


As the treatment of epithelial ovarian cancer (OC) moves further into personalised medicine, the importance of determining the presence or absence of inherited mutations in cancer susceptibility genes has grown. It is now becoming routine to test for germline mutations in the BRCA1 and BRCA2 genes, which are responsible for a significant proportion of hereditary epithelial OC and are established predictive biomarkers of potential benefit from poly ADP ribose polymerase (PARP) inhibitors. The identification of patients with hereditary OC allows the patient to benefit from personalised treatment, while allowing family members to undergo cascade testing, where identification of unaffected carriers can allow early detection, risk-reduction or prevention for both breast and OC, and ultimately improve long-term outcomes. Other susceptibility genes, include the Lynch Syndrome (mismatch repair) genes and several other genes involved in the homologous recombination pathway (HRD genes), are implicated in OC genesis, and are also becoming of increasing interest as therapeutic options grow for these patients. This review will highlight the importance of the early detection of a germline gene pathogenic variant, which informs on the clinical course of disease in a particular patient, and therefore, guides therapeutic management including risk reducing and personalised treatment.

Keywords: BRCA; Genetic; HRD (homologous recombination deficiency); Lynch; MMR (mismatch repair); PARP inhibitor.

Publication types

  • Review

MeSH terms

  • Carcinoma, Ovarian Epithelial / diagnosis
  • Carcinoma, Ovarian Epithelial / genetics*
  • Female
  • Genes, BRCA1
  • Genes, BRCA2
  • Genetic Predisposition to Disease*
  • Genetic Testing / methods*
  • Germ-Line Mutation
  • Humans
  • Ovarian Neoplasms / diagnosis
  • Ovarian Neoplasms / genetics*