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

Authors
Hofmann, W Jandrig, B Classen, E Nestle-Kraemling, C Chang-Claude, J Scherneck, S
Citation
W. Hofmann et al., Identification of a recurrent BRCA1 mutation in German breast-cancer and/or ovarian-cancer families, J CANC RES, 127(3), 2001, pp. 200-202
Citations number
7
Categorie Soggetti
Onconogenesis & Cancer Research
Journal title
JOURNAL OF CANCER RESEARCH AND CLINICAL ONCOLOGY
ISSN journal
01715216 → ACNP
Volume
127
Issue
3
Year of publication
2001
Pages
200 - 202
Database
ISI
SICI code
0171-5216(200103)127:3<200:IOARBM>2.0.ZU;2-N
Abstract
Specific BRCA1 mutations have been reported to be common within particular populations. We have investigated German breast- and/or ovarian-cancer fami lies and detected a recurrent carboxy-terminal BRCA1 mutation, 5622C > T, u sing PCR-based restriction assay and haplotype analysis. Unrelated families carrying this BRCA1 mutation shared two different disease-associated haplo types, indicating two independent mutation events.