BRCA1 and BRCA2 in breast cancer families from Wales: moderate mutation frequency and two recurrent mutations in BRCA1

Br J Cancer. 1998 Dec;78(11):1417-20. doi: 10.1038/bjc.1998.701.


Mutations in the BRCA1/BRCA2 genes account for varying proportions of breast cancer families studied, and demonstrate considerable variation in mutational spectra coincident with ethnic and geographical diversity. We have screened for mutations in 17 families from Wales with two or more cases of breast cancer under age 50 and/or ovarian cancer. Eight out of 17 (47%) families had demonstrable mutations. Six out of 17 (35%) carried BRCA1 mutations and 2 out of 17 (12%) carried BRCA2 mutations. Two recurrent mutations in BRCA1 were identified, which appear to represent founder mutations in this population. These data support the existence of additional breast and ovarian cancer susceptibility genes.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • BRCA2 Protein
  • Breast Neoplasms / ethnology
  • Breast Neoplasms / genetics*
  • Female
  • Frameshift Mutation*
  • Genes, BRCA1 / genetics*
  • Genes, Tumor Suppressor / genetics*
  • Humans
  • Neoplasm Proteins / genetics*
  • Neoplastic Syndromes, Hereditary / genetics*
  • Ovarian Neoplasms / ethnology
  • Ovarian Neoplasms / genetics*
  • Transcription Factors / genetics*
  • Wales / ethnology


  • BRCA2 Protein
  • Neoplasm Proteins
  • Transcription Factors