Germline Genetic Testing in Breast Cancer: Systemic Therapy Implications

Curr Oncol Rep. 2022 Dec;24(12):1791-1800. doi: 10.1007/s11912-022-01340-x. Epub 2022 Oct 18.


Purpose of review: In this article, we discuss recent advances in germline genetic testing for patients with breast cancer and highlight current limitations and impacts on clinical care. We also provide an update on the therapeutic implications of having a germline mutation, including targeted systemic therapy options for treating early and metastatic breast cancer.

Recent findings: Approximately 5 to 10% of women diagnosed with breast cancer have a pathogenic variant in a hereditary cancer susceptibility gene, which has significant implications for managing these patients. Previously, testing was done mainly to inform screening and risk-reduction treatment; however, more recently, germline genetic results have significant systemic therapy implications that can meaningfully improve outcomes in breast cancer patients, especially with oral poly-ADP-ribose polymerase (PARP) inhibitors. These systemic therapy advances implore a shift in paradigm for whom to test moving forward and how to modify the existing testing models to meet the increasing demand for germline testing, which is expected to grow exponentially.

Keywords: BRCA1; BRCA2; Breast cancer; Germline genetic testing; Olaparib; PARP inhibitors; Systemic therapy; Targeted therapies.

Publication types

  • Review

MeSH terms

  • BRCA1 Protein / genetics
  • BRCA2 Protein* / genetics
  • Breast Neoplasms* / drug therapy
  • Breast Neoplasms* / genetics
  • Breast Neoplasms* / pathology
  • Female
  • Genetic Testing
  • Germ Cells / pathology
  • Humans
  • Poly(ADP-ribose) Polymerase Inhibitors / therapeutic use


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