Identification of the breast cancer susceptibility gene BRCA2.

Journal Article (Journal Article)

In Western Europe and the United States approximately 1 in 12 women develop breast cancer. A small proportion of breast cancer cases, in particular those arising at a young age, are attributable to a highly penetrant, autosomal dominant predisposition to the disease. The breast cancer susceptibility gene, BRCA2, was recently localized to chromosome 13q12-q13. Here we report the identification of a gene in which we have detected six different germline mutations in breast cancer families that are likely to be due to BRCA2. Each mutation causes serious disruption to the open reading frame of the transcriptional unit. The results indicate that this is the BRCA2 gene.

Full Text

Duke Authors

Cited Authors

  • Wooster, R; Bignell, G; Lancaster, J; Swift, S; Seal, S; Mangion, J; Collins, N; Gregory, S; Gumbs, C; Micklem, G

Published Date

  • December 21, 1995

Published In

Volume / Issue

  • 378 / 6559

Start / End Page

  • 789 - 792

PubMed ID

  • 8524414

International Standard Serial Number (ISSN)

  • 0028-0836

Digital Object Identifier (DOI)

  • 10.1038/378789a0


  • eng

Conference Location

  • England