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.