Mutation analysis of BRCA1 and BRCA2 in Turkish cancer families: a novel mutation BRCA2 3414del4 found in male breast cancer

Eur J Cancer. 1999 May;35(5):707-10. doi: 10.1016/s0959-8049(99)00014-3.


Since the identification of the BRCA1 and BRCA2 breast-ovarian cancer susceptibility genes, mutation analyses have been carried out in different populations. Here we screened 15 Turkish breast and breast-ovarian cancer families for mutations in both genes by conformation-sensitive gel electrophoresis (CSGE) and the protein truncation test (PTT), followed by DNA sequencing. Three families included a male breast cancer case, one without family history. Three germline mutations were identified, two in BRCA1 and one in BRCA2. The two BRCA1 mutations, 5382insC and 5622C-->T, were found in breast-ovarian cancer families. The BRCA2 3414delTCAG is a novel mutation detected in a site-specific breast cancer family that included 1 case of male breast cancer. These first results of Turkish families show that the frequency of germline BRCA1 or BRCA2 mutations appears to be high in families with at least 3 breast and/or ovarian cancer cases.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age of Onset
  • BRCA2 Protein
  • Breast Neoplasms, Male / genetics*
  • Female
  • Genes, BRCA1 / genetics*
  • Genetic Predisposition to Disease
  • Germ-Line Mutation / genetics*
  • Humans
  • Male
  • Neoplasm Proteins / genetics*
  • Ovarian Neoplasms / genetics
  • Pedigree
  • Pilot Projects
  • Transcription Factors / genetics*
  • Turkey / epidemiology


  • BRCA2 Protein
  • Neoplasm Proteins
  • Transcription Factors