Identification of a recurrent BRCA1 mutation in German breast-cancer and/or ovarian-cancer families.
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.
Department of Tumor Genetics, Max Delbrück Center for Molecular Medicine, Robert-Rössle-Strasse 10, 13092 Berlin, Germany. whofmann@mdc-berlin.de
W
W
Hofmann
B
B
Jandrig
E
E
Classen
C
C
Nestle-Kraemling
J
J
Chang-Claude
S
S
Scherneck
D001943:Breast Neoplasms / Q000235:genetics*; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000235:genetics; D005260:Female; D019398:Genes, BRCA1 / Q000235:genetics*; D005858:Germany; D006239:Haplotypes; D006801:Humans; D009154:Mutation; D010051:Ovarian Neoplasms / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D044465:White People / Q000235:genetics*
D004273:DNA, Neoplasm