BRCA1 gene: function and deficiency

Int J Clin Oncol. 2018 Feb;23(1):36-44. doi: 10.1007/s10147-017-1182-2. Epub 2017 Sep 7.


The BRCA1 protein, a hereditary breast and ovarian cancer-causing gene product, is known as a multifunctional protein that performs various functions in cells. It is well known, along with BRCA 2, to cause hereditary breast and ovarian cancer, but here we will specifically focus on BRCA1. We introduce the mechanism and the latest report on homologous recombination repair, replication, involvement in checkpoint regulation, transcription, chromatin remodeling, and cytoplasmic function (centrosome regulation, apoptosis, selective autophagy), and consider the possibility of carcinogenesis from inhibition of the intracellular functions in each. We also consider the possibility of drug development based on each function. Finally, we will explain, from data obtained through basic research, that an appropriate regimen is important for raising the response rate for poly (ADP)-ribose polymerase inhibitors, in the case of low susceptibility, iatrogenic toxicity, tolerance, etc.

Keywords: BRCA1; Gene mutation; Hereditary breast and ovarian cancer; PARP inhibitor.

Publication types

  • Review

MeSH terms

  • Apoptosis / genetics
  • BRCA1 Protein / chemistry
  • BRCA1 Protein / genetics*
  • BRCA1 Protein / metabolism*
  • Breast Neoplasms / drug therapy
  • Breast Neoplasms / genetics*
  • Cell Cycle Checkpoints / genetics
  • Chromatin Assembly and Disassembly
  • DNA Repair / genetics
  • Female
  • Genes, BRCA1
  • Genetic Predisposition to Disease
  • Homologous Recombination
  • Humans
  • Mutation
  • Ovarian Neoplasms / drug therapy
  • Ovarian Neoplasms / genetics*
  • Poly(ADP-ribose) Polymerase Inhibitors / pharmacology


  • BRCA1 Protein
  • BRCA1 protein, human
  • Poly(ADP-ribose) Polymerase Inhibitors