Screening and Testing for Homologous Recombination Repair Deficiency (HRD) in Breast Cancer: an Overview of the Current Global Landscape

Curr Oncol Rep. 2024 Aug;26(8):890-903. doi: 10.1007/s11912-024-01560-3. Epub 2024 Jun 1.

Abstract

Purpose of review: Homologous recombination repair deficiency (HRD) increases breast cancer susceptibility and influences both prophylactic and active management of breast cancer. This review evaluates HRD testing and the therapeutic implications of HRD in a global context.

Recent findings: Ongoing research efforts have highlighted the importance of HRD beyond BRCA1/2 as a potential therapeutic target in breast cancer. However, despite the improved affordability of next-generation sequencing (NGS) and the discovery of PARP inhibitors, economic and geographical barriers in access to HRD testing and breast cancer screening do not allow all patients to benefit from the personalized treatment approach they provide. Advancements in HRD testing modalities and targeted therapeutics enable tailored breast cancer management. However, inequalities in access to testing and optimized treatments are contributing to widening health disparities globally.

Keywords: Breast cancer; Global; Health equality; Homologous Recombination Repair Deficiency; PARP inhibitors.

Publication types

  • Review

MeSH terms

  • BRCA1 Protein / genetics
  • BRCA2 Protein / genetics
  • Breast Neoplasms* / diagnosis
  • Breast Neoplasms* / genetics
  • Early Detection of Cancer / methods
  • Female
  • Genetic Predisposition to Disease
  • Genetic Testing / methods
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Recombinational DNA Repair* / genetics

Substances

  • BRCA2 Protein
  • BRCA1 Protein