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

Authors

  • W. Hofmann
  • B. Jandrig
  • E. Classen
  • C. Nestle-Kraemling
  • J. Chang-Claude
  • S. Scherneck

Journal

  • Journal of Cancer Research and Clinical Oncology

Citation

  • J Cancer Res Clin Oncol 127 (3): 200-202

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.