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BRCA1 mutations in German breast‐cancer families
Author(s) -
Jandrig Burkhard,
Grade Klaus,
Seitz Susanne,
Waindzoch Beate,
Müller Manuela,
Bender Erhard,
Nothnagel Anita,
Rohde Klaus,
Schlag Peter M.,
Kath Roland,
Höffken Klaus,
Scherneck Siegfried
Publication year - 1996
Publication title -
international journal of cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.475
H-Index - 234
eISSN - 1097-0215
pISSN - 0020-7136
DOI - 10.1002/(sici)1097-0215(19961009)68:2<188::aid-ijc8>3.0.co;2-u
Subject(s) - german , breast cancer , cancer , medicine , mutation , genetics , oncology , biology , gene , history , archaeology
We analyzed germline mutations of the BRCAI gene in 20 German breast/ovarian‐cancer families. BRCAI mutations co‐segregating 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 BRCAI proteins of different length. Nine polymorphisms were detected in BRCAI , 4 of which have not been described previously. Analysis of familial tumors for LOH revealed that only the disease‐related allele of BRCAI was present. © 1996 Wiley‐Liss, Inc.