Germline mutations in the BRCA1 and BRCA2 genes in Turkish breast/ovarian cancer patients

Authors

  • A. Esra Manguoǧlu,

    1. Department of Medical Biology and Genetics, Faculty of Medicine, Akdeniz University, Antalya, Turkey
    2. The Susanne-Levy Gertner Oncogenetics Unit, The Danek Gertner Institute of Genetics, Chaim Sheba Medical center, Tel-Hashomer, 52621; and the Sackler School of Medicine, Tel-Aviv University, Ramat Aviv, Israel
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  • Güven Lüleci,

    1. Department of Medical Biology and Genetics, Faculty of Medicine, Akdeniz University, Antalya, Turkey
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  • Tayfun Özçelik,

    1. Department of Molecular Biology and Genetics, Bilkent University, Ankara 06533, Turkey
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  • Taner Çolak,

    1. Department of Surgery, Faculty of Medicine, Akdeniz University, Antalya 07070, Turkey
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  • Hagit Schayek,

    1. The Susanne-Levy Gertner Oncogenetics Unit, The Danek Gertner Institute of Genetics, Chaim Sheba Medical center, Tel-Hashomer, 52621; and the Sackler School of Medicine, Tel-Aviv University, Ramat Aviv, Israel
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  • Mustafa Akaydın,

    1. Department of Surgery, Faculty of Medicine, Akdeniz University, Antalya 07070, Turkey
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  • Eitan Friedman

    Corresponding author
    1. The Susanne-Levy Gertner Oncogenetics Unit, The Danek Gertner Institute of Genetics, Chaim Sheba Medical center, Tel-Hashomer, 52621; and the Sackler School of Medicine, Tel-Aviv University, Ramat Aviv, Israel
    • The Susanne Levy Gertner Oncogenetics Unit, The Danek Gertner Institute of Genetics, Chaim Sheba Medical Center Tel-Hashomer, 52621 Israel
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Abstract

In this study we genotyped Turkish breast/ovarian cancer patients for BRCA1/BRCA2 mutations: protein truncation test (PTT) for exon 11 BRCA1 of and, multiplex PCR and denaturing gradient gel electrophoresis (DGGE) for BRCA2, complemented by DNA sequencing. In addition, a modified restriction assay was used for analysis of the predominant Jewish mutations: 185delAG, 5382InsC, Tyr978X (BRCA1) and 6174delT (BRCA2). Eighty three breast/ovarian cancer patients were screened: twenty three had a positive family history of breast/ovarian cancer, ten were males with breast cancer at any age, in eighteen the disease was diagnosed under 40 years of age, one patient had ovarian cancer in addition to breast cancer and one patient had ovarian cancer. All the rest (n=30) were considered sporadic breast cancer cases. Overall, 3 pathogenic mutations (3/53-5.7%) were detected, all in high risk individuals (3/23–13%): a novel (2990insA) and a previously described mutation (R1203X) in BRCA1, and a novel mutation (9255delT) in BRCA2. In addition, three missense mutations [two novel (T42S, N2742S) and a previously published one (S384F)] and two neutral polymorphisms (P9P, P2532P) were detected in BRCA2. Notably none of the male breast cancer patients harbored any mutation, and none of the tested individuals carried any of the Jewish mutations. Our findings suggest that there are no predominant mutations within exon 11 of the BRCA1 and in BRCA2 gene in Turkish high risk families. © 2003 Wiley-Liss, Inc.

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