We analyzed germline mutations of the BRCAl gene in 20 German breast/ovarian-cancer families. BRCA I mutations cosegregating with breast-cancer susceptibility were identified in 3 of these families. All mutations were found to generate a premature stop codon leading to the synthesis of truncated BRC
Identification of a recurrent BRCA1 mutation in German breast-cancer and/or ovarian-cancer families
β Scribed by Wera Hofmann; Burkhard Jandrig; Elvira Classen; Carolin Nestle-Kraemling; Jenny Chang-Claude; Siegfried Scherneck
- Publisher
- Springer-Verlag
- Year
- 2001
- Tongue
- English
- Weight
- 69 KB
- Volume
- 127
- Category
- Article
- ISSN
- 1432-1335
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Germline mutations in the BRCA1 and BRCA2 genes are responsible for the predisposition and development of familial breast and/or ovarian cancer. Most mutations of BRCA1 and BRCA2 associated with breast and/or ovarian cancer result in truncated proteins. To investigate the presence of BRCA1 and BRCA2
A group of 83 Spanish BC/OC families were analysed for BRCA1 germ-line mutations. Analysis of the entire coding sequence was carried out by SSCP and PTT. We identified 5 frameshift mutations: 185delAG (2 times), 189insTGTC, 1241delAC, and 5537delA and 3 missense mutations in BRCA1: 330A G G, 1240C G
We identified 17 BRCA1 mutations in 86 Austrian breast and ovarian cancer families (20%) that were screened for mutations by denaturing high-performance liquid chromatography (DHPLC) and the protein truncation test (PTT). Eleven distinct mutations were detected, 4 of them (962del4, 2795del4, 3135del