BRCA1 exon 11 alternative splicing, multiple functions and the association with cancer

Biochem Soc Trans. 2012 Aug;40(4):768-72. doi: 10.1042/BST20120140.

Abstract

BRCA1 (breast cancer early-onset 1) alternative splicing levels are regulated in a cell-cycle- and cell-type-specific manner, with splice variants being present in different proportions in tumour cell lines as well as in normal mammary epithelial cells. The importance of this difference in the pathogenesis of breast cancer has yet to be determined. Developing an understanding of the impact of BRCA1 isoform ratio changes on cell phenotype will be of value in breast cancer and may offer therapeutic options. In the present paper, we describe the splicing isoforms of BRCA1 exon 11, their possible role in cancer biology and the importance of maintaining a balanced ratio.

Publication types

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

MeSH terms

  • Alternative Splicing / genetics*
  • Animals
  • BRCA1 Protein / genetics*
  • Breast Neoplasms / genetics*
  • Exons / genetics
  • Female
  • Humans

Substances

  • BRCA1 Protein