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Homologous recombination deficiency and hemizygosity drive resistance in breast cancer - PubMed

12 hours ago
  • #breast cancer
  • #therapy resistance
  • #homologous recombination deficiency
  • Germline and somatic oncogenic alterations co-occur in breast cancer, influencing tumor evolution and therapy resistance.
  • Germline BRCA2-associated tumors are predisposed to RB1 loss-of-function alterations, leading to resistance to CDK4/6 inhibitors.
  • RB1 hemizygosity and homologous recombination deficiency facilitate RB1 loss under CDK4/6 inhibitor pressure.
  • PARP inhibition outperforms CDK4/6 inhibitors in preclinical models and clinical data for gBRCA2 carriers.
  • A predictive framework is proposed for forecasting drug-resistant trajectories based on pre-treatment allelic configuration and mutational signatures.