Homologous recombination proficiency in ovarian and breast cancer patients

BMC Cancer. 2021 Oct 28;21(1):1154. doi: 10.1186/s12885-021-08863-9.

Abstract

Homologous recombination and DNA repair are important for genome maintenance. Genetic variations in essential homologous recombination genes, including BRCA1 and BRCA2 results in homologous recombination deficiency (HRD) and can be a target for therapeutic strategies including poly (ADP-ribose) polymerase inhibitors (PARPi). However, response is limited in patients who are not HRD, highlighting the need for reliable and robust HRD testing. This manuscript will review BRCA1/2 function and homologous recombination proficiency in respect to breast and ovarian cancer. The current standard testing methods for HRD will be discussed as well as trials leading to approval of PARPi's. Finally, standard of care treatment and synthetic lethality will be reviewed.

Keywords: BRCA; Breast cancer; Homologous recombination; Homologous recombination deficient; Homologous recombination proficient; Ovarian cancer; PARP inhibitor.

Publication types

  • Review

MeSH terms

  • Breast Neoplasms / drug therapy
  • Breast Neoplasms / genetics*
  • Female
  • Genes, BRCA1 / physiology*
  • Genes, BRCA2 / physiology*
  • Genetic Variation
  • Homologous Recombination / physiology*
  • Humans
  • Mutation
  • Ovarian Neoplasms / drug therapy
  • Ovarian Neoplasms / genetics*
  • Poly(ADP-ribose) Polymerase Inhibitors / therapeutic use
  • Poly(ADP-ribose) Polymerases / physiology
  • Recombinational DNA Repair / physiology*

Substances

  • Poly(ADP-ribose) Polymerase Inhibitors
  • Poly(ADP-ribose) Polymerases