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Mutations and Polymorphisms in the familial early‐onset breast cancer ( BRCA1 ) gene
Author(s) -
Couch Fergus J.,
Weber Barbara L.
Publication year - 1996
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.1380080102
Subject(s) - missense mutation , biology , genetics , breast cancer , nonsense mutation , point mutation , mutation , gene , cancer
Mutations in the familial early‐onset breast cancer gene ( BRCA1 ) account for approximately 2–5% of all breast cancer cases (Easton et al., 1993). Since the isolation of the BRCA1 gene in 1994, many mutations have been identified. We report here a total of 254 BRCA1 mutations, 132 (52%) of which are unique. These represent mutations entered into a database established by the Breast Cancer Information Core (BIC), which have appeared in the literature or have been submitted by BIC members and other contributors prior to publication. A total of 221 (87%) of all mutations or 107 (81%) of the unique mutations are small deletions, insertions, nonsense point mutations, splice variants, and regulatory mutations that result in truncation or absence of the BRCA1 protein. A total of 11 disease‐associated missense mutations (5 unique), and 21 variants (19 unique) as yet unclassified as either missense mutations or polymorphisms have been detected. Thirty‐five independent benign polymorphisms are also described. The most common mutations are 185delAG and 5382insC, which account for 30 (11.7%) and 26 (10.1%), respectively, of all mutations shown. The biological and clinical relevance of these BRCA1 mutations is discussed. © 1996 Wiley‐Liss, Inc.