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


Balci A., Huusko P., Paakkonen K., Launonen V., Uner A., Ekmekci A., ...Daha Fazla

EUROPEAN JOURNAL OF CANCER, cilt.35, sa.5, ss.707-710, 1999 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 35 Konu: 5
  • Basım Tarihi: 1999
  • Doi Numarası: 10.1016/s0959-8049(99)00014-3
  • Dergi Adı: EUROPEAN JOURNAL OF CANCER
  • Sayfa Sayıları: ss.707-710

Özet

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. (C) 1999 Elsevier Science Ltd. All rights reserved.