A breast cancer patient from Italy with germline mutations in both the BRCA1 and BRCA2 genes

Breast Cancer Res Treat. 2005 May;91(2):203-5. doi: 10.1007/s10549-004-7704-4.

Abstract

We report the first case in Italy of a non-Ashkenazi double heterozygote for BRCA1 and BRCA2 genes. This finding is predictably rare, with a maximum frequency of 1/250,000. The proband and her mother were diagnosed with early-onset breast cancer. No other relatives with breast and/or ovarian cancer were observed. The implications of this case in regard to genetic testing and counseling are substantial.

Publication types

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

MeSH terms

  • Adult
  • Breast Neoplasms / genetics*
  • Female
  • Genes, BRCA1*
  • Genes, BRCA2*
  • Germ-Line Mutation*
  • Heterozygote
  • Humans
  • Italy
  • Pedigree