Disparities in Hereditary Genetic Testing in Patients with Triple Negative Breast Cancer

Clin Breast Cancer. 2025 Jan;25(1):12-18.e1. doi: 10.1016/j.clbc.2024.09.018. Epub 2024 Oct 10.

Abstract

Triple-negative breast cancer (TNBC) is an aggressive subtype of breast cancer that disproportionately affects younger females, non-Hispanic Black women, Hispanic women, and women with the BRCA1 gene mutation. Hereditary genetic testing is particularly important in this population to assess preventative and treatment strategies, however access to genetic testing is variable. A qualitative review was performed to evaluate barriers to genetic testing for patients with TNBC. Mutations common in breast cancer are reviewed along with updated guidelines on management strategies, including the ability to include PARP inhibitors as a treatment strategy. Barriers to genetic testing are multifactorial, with non-Hispanic Black women being tested less often than other groups. The disparity is even further represented by the limited number of non-Hispanic Black patients with TNBC who receive risk-reducing surgery or targeted systemic therapy. Eliminating barriers to genetic testing can allow us to support guideline-directed care for patients with TNBC at higher risk for genetic mutations.

Keywords: BRCA1; BRCA2; Health disparities; Risk reduction; Screening.

Publication types

  • Review

MeSH terms

  • BRCA1 Protein / genetics
  • Black or African American / genetics
  • Female
  • Genetic Predisposition to Disease
  • Genetic Testing*
  • Healthcare Disparities*
  • Hispanic or Latino / genetics
  • Humans
  • Mutation
  • Triple Negative Breast Neoplasms* / genetics
  • Triple Negative Breast Neoplasms* / therapy

Substances

  • BRCA1 Protein
  • BRCA1 protein, human