Mutation analysis of BRCA1 and BRCA2 in Turkish cancer families: a novel mutation BRCA2 3414de14 found in male breast cancer

Since the identification of the BRCA1 and BRCA2 breast-ovarian cancer susce ptibility genes, mutation analyses have been carried out in different popul ations. Here we screened 15 Turkish breast and breast-ovarian cancer famili es for mutations in both genes by conformation-sensitive gel electrophoresi s (CSGE) and the protein truncation test (PTT), followed by DNA sequencing. Three families included a male breast cancer case, one without family hist ory. Three germline mutations were identified, two in BRCA1 and one in BRCA 2. The two BRCA1 mutations, 5382insC and 5622C-->T, were found in breast-ov arian cancer families. The BRCA2 3414delTCAG is a novel mutation detected i n 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 le ast 3 breast and/or ovarian cancer cases. (C) 1999 Elsevier Science Ltd. Al l rights reserved.