Germline and somatic testing for ovarian Cancer: An SGO clinical practice statement

Gynecol Oncol. 2024 Feb:181:170-178. doi: 10.1016/j.ygyno.2023.12.010. Epub 2024 Jan 12.

Abstract

Germline and somatic genetic testing have become critical components of care for people with ovarian cancer. The identification of germline and somatic pathogenic variants as well as homologous recombination deficiency can contribute to the prediction of treatment response, prognostic outcome, and suitability for targeted agents (e.g. poly (ADP-ribose) polymerase (PARP) inhibitors). Furthermore, identifying germline pathogenic variants can prompt cascade genetic testing for at-risk relatives. Despite the clinical benefits and consensus recommendations from several organizations calling for universal genetic testing in ovarian cancer, only about one third of patients complete germline or somatic genetic testing. The members of the Society of Gynecologic Oncology (SGO) Clinical Practice Committee have composed this statement to provide an overview of germline and somatic genetic testing for patients with epithelial ovarian cancer, focusing on available testing modalities and options for care delivery.

Keywords: Genetic screening; Germline testing; Ovarian cancer; Somatic testing.

MeSH terms

  • Antineoplastic Agents* / therapeutic use
  • BRCA1 Protein / genetics
  • BRCA2 Protein / genetics
  • Carcinoma, Ovarian Epithelial / drug therapy
  • Carcinoma, Ovarian Epithelial / therapy
  • Female
  • Genetic Testing
  • Germ Cells / pathology
  • Germ-Line Mutation
  • Humans
  • Ovarian Neoplasms* / diagnosis
  • Ovarian Neoplasms* / genetics
  • Ovarian Neoplasms* / therapy
  • Poly(ADP-ribose) Polymerase Inhibitors / pharmacology
  • Poly(ADP-ribose) Polymerase Inhibitors / therapeutic use
  • Poly(ADP-ribose) Polymerases / genetics
  • Poly(ADP-ribose) Polymerases / therapeutic use

Substances

  • Poly(ADP-ribose) Polymerase Inhibitors
  • Antineoplastic Agents
  • Poly(ADP-ribose) Polymerases
  • BRCA1 Protein
  • BRCA2 Protein