Mutations of BRCA genes in hereditary breast and ovarian cancer

J Exp Clin Cancer Res. 2002 Sep;21(3 Suppl):9-12.


BRCA1 and BRCA2 are the main genetic elements associated with hereditary susceptibility to breast and ovarian cancer that have been isolated to date. DNA analysis can identify carriers of mutations in these genes, who, accordingly, can benefit by adequate clinical programs for the reduction of cancer risk. Unfortunately, the analysis is complicated by the complexity of associated mutation spectra. The procedure for mutation testing in BRCA genes and its limitations are discussed.

Publication types

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

MeSH terms

  • Breast Neoplasms / genetics*
  • Female
  • Genes, BRCA1*
  • Genes, BRCA2*
  • Genetic Testing / methods
  • Genetic Testing / trends
  • Humans
  • Mutation
  • Ovarian Neoplasms / genetics*