title: Mutation analysis of BRCA1 and BRCA2 in Turkish cancer families: a novel mutation BRCA2 3414del4 found in male breast cancer.
abstract: 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.
authors.affiliation: Department of Medical Biology and Genetics, Faculty of Medicine, Gazi University, Ankara, Turkey.
authors.forename: A
authors.initials: A
authors.lastname: Balci
authors.forename: P
authors.initials: P
authors.lastname: Huusko
authors.forename: K
authors.initials: K
authors.lastname: Pääkkönen
authors.forename: V
authors.initials: V
authors.lastname: Launonen
authors.forename: A
authors.initials: A
authors.lastname: Uner
authors.forename: A
authors.initials: A
authors.lastname: Ekmekçi
authors.forename: R
authors.initials: R
authors.lastname: Winqvist
mesh_terms: D017668:Age of Onset; D024682:BRCA2 Protein; D018567:Breast Neoplasms, Male / Q000235:genetics*; D005260:Female; D019398:Genes, BRCA1 / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D008297:Male; D009363:Neoplasm Proteins / Q000235:genetics*; D010051:Ovarian Neoplasms / Q000235:genetics; D010375:Pedigree; D010865:Pilot Projects; D014157:Transcription Factors / Q000235:genetics*; D014421:Turkey / Q000453:epidemiology
chemical_list: D024682:BRCA2 Protein; D009363:Neoplasm Proteins; D014157:Transcription Factors