BRCA in breast cancer: from risk assessment to therapeutic prediction

Drug News Perspect. 2009 Dec;22(10):603-8. doi: 10.1358/dnp.2009.22.10.1440985.


BRCA1/2 mutations are the most commonly identified germ line gene mutations in patients with hereditary breast cancer. These proteins have many critical cellular functions, including repair of DNA double-strand breaks. The role of defective BRCA1/2 as a predictor of response to DNA-damaging agents has been studied extensively in preclinical models, but prospective clinical validation is lacking. Poly [ADP-ribose] polymerase (PARP) inhibitors illustrate the concept of synthetic lethality in cells with defective BRCA1/2 and numerous PARP inhibitors are being evaluated in patients with BRCA1/2-associated tumors. BRCA1/2 mutation or functional loss will likely serve as a useful predictive biomarker of response to treatment with PARP inhibitors.

Publication types

  • Review

MeSH terms

  • Antineoplastic Agents / pharmacology
  • Biomarkers, Tumor / metabolism
  • Breast Neoplasms / drug therapy
  • Breast Neoplasms / genetics*
  • Clinical Trials as Topic
  • Female
  • Genes, BRCA1*
  • Genes, BRCA2*
  • Humans
  • Mutation
  • Poly(ADP-ribose) Polymerase Inhibitors
  • Risk
  • Treatment Outcome


  • Antineoplastic Agents
  • Biomarkers, Tumor
  • Poly(ADP-ribose) Polymerase Inhibitors