Regulation of BRCA1 expression and its relationship to sporadic breast cancer

Breast Cancer Res. 2003;5(1):45-52. doi: 10.1186/bcr557. Epub 2002 Nov 13.


Germ-line mutations in the BRCA1 tumour suppressor gene contribute to familial breast tumour formation, but there is no evidence for direct mutation of the BRCA1 gene in the sporadic form of the disease. In contrast, decreased expression of the BRCA1 gene has been shown to be common in sporadic tumours, and the magnitude of the decrease correlates with disease progression. BRCA1 expression is also tightly regulated during normal breast development. Determining how these developmental regulators of BRCA1 expression are co-opted during breast tumourigenesis could lead to a better understanding of sporadic breast cancer aetiology and the generation of novel therapeutic strategies aimed at preventing sporadic breast tumour progression.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Review

MeSH terms

  • BRCA1 Protein / genetics*
  • Base Sequence
  • Breast Neoplasms / genetics*
  • Breast Neoplasms / pathology
  • DNA Methylation
  • Female
  • Gene Expression Regulation, Neoplastic*
  • Humans
  • Loss of Heterozygosity
  • Molecular Sequence Data
  • Promoter Regions, Genetic / genetics


  • BRCA1 Protein