Two Germline Pathogenic Variants in Cancer Susceptibility Genes and Their Null Implication in Breast Cancer Pathogenesis: The Importance of Tumoral Homologous Recombination Deficiency Testing

JCO Precis Oncol. 2024 Mar:8:e2300446. doi: 10.1200/PO.23.00446.

Abstract

Homologous recombination proficiency in patients with breast cancer despite germline PALB2/RAD51C pathogenic variants.

MeSH terms

  • Breast Neoplasms* / diagnosis
  • Breast Neoplasms* / genetics
  • Breast Neoplasms* / pathology
  • Female
  • Genetic Predisposition to Disease / genetics
  • Germ Cells / pathology
  • Germ-Line Mutation / genetics
  • Homologous Recombination / genetics
  • Humans