Mutations and polymorphisms in the familial early-onset breast cancer (BRCA1) gene

Fergus J Couch, Barbara L. Weber

Research output: Contribution to journalArticle

258 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
Pages (from-to)8-18
Number of pages11
JournalHuman Mutation
Volume8
Issue number1
DOIs
StatePublished - 1996
Externally publishedYes

Fingerprint

BRCA1 Gene
Neoplasm Genes
Breast Neoplasms
Mutation
Missense Mutation
BRCA1 Protein
INDEL Mutation
Nonsense Codon
Point Mutation
Publications
Databases

Keywords

  • BIC
  • BRCA1
  • polymorphisms

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Mutations and polymorphisms in the familial early-onset breast cancer (BRCA1) gene. / Couch, Fergus J; Weber, Barbara L.

In: Human Mutation, Vol. 8, No. 1, 1996, p. 8-18.

Research output: Contribution to journalArticle

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