BRCA1 and BRCA2 mutations in breast/ovarian cancer patients from central Italy

Hum Mutat. 2003 Aug;22(2):178-9. doi: 10.1002/humu.9164.

Abstract

We report on the screening of the entire BRCA1/BRCA2 coding sequence by SSCP, PTT, and direct sequencing in 68 Italian families with recurrent breast or ovarian cancer. For each investigated proband, the probability of being carrier of a BRCA1/BRCA2 mutation was evaluated using the BRCAPRO software. We detected BRCA1/BRCA2 mutations in 8 patients (11.7%). However, if considering only patients with a carrier probability >10%, the detection rate was 36.8%, confirming the usefulness of the BRCAPRO software. One change (BRCA1 4172insT) was a novel mutation not reported in BIC database.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Breast Neoplasms / epidemiology
  • Breast Neoplasms / genetics*
  • Breast Neoplasms, Male / epidemiology
  • Breast Neoplasms, Male / genetics*
  • Female
  • Genes, BRCA1*
  • Genes, BRCA2*
  • Humans
  • Italy / epidemiology
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Ovarian Neoplasms / epidemiology
  • Ovarian Neoplasms / genetics*