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Identification of a recurrent BRCA1 mutation in German breast-cancer and/or ovarian-cancer families

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Abstract

Specific BRCA1 mutations have been reported to be common within particular populations. We have investigated German breast- and/or ovarian-cancer families and detected a recurrent carboxy-terminal BRCA1 mutation, 5622C > T, using PCR-based restriction assay and haplotype analysis. Unrelated families carrying this BRCA1 mutation shared two different disease-associated haplotypes, indicating two independent mutation events.

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Authors and Affiliations

  1. Department of Tumor Genetics, Max Delbrück Center for Molecular Medicine, Robert-Rössle-Strasse 10, 13092 Berlin, Germany e-mail: whofmann@mdc-berlin.de Tel.: +49-30-94062787; Fax: +49-30-94063842, , , , , , DE

    Wera Hofmann, Burkhard Jandrig, Elvira Classen & Siegfried Scherneck

  2. Women's Hospital, University of Munich, Marchioninistrasse 15, 81377 Munich, Germany, , , , , , DE

    Carolin Nestle-Kraemling

  3. Division of Epidemiology, German Cancer Center, Im Neuenheimer Feld 280, 69120 Heidelberg, Germany, , , , , , DE

    Jenny Chang-Claude

Authors
  1. Wera Hofmann
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  2. Burkhard Jandrig
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  3. Elvira Classen
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  4. Carolin Nestle-Kraemling
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  5. Jenny Chang-Claude
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  6. Siegfried Scherneck
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Additional information

Received: 17 July 2000 / Accepted: 19 September 2000

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Hofmann, W., Jandrig, B., Classen, E. et al. Identification of a recurrent BRCA1 mutation in German breast-cancer and/or ovarian-cancer families. J Cancer Res Clin Oncol 127, 200–202 (2001). https://doi.org/10.1007/s004320000204

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  • DOI: https://doi.org/10.1007/s004320000204

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