Identification of the breast cancer susceptibility gene BRCA2

Richard Wooster, Graham Bignell, Jonathan Lancaster, Sally Swift, Sheila Seal, Jonathan Mangion, Nadine Collins, Simon Gregory, Curtis Gumbs, Gos Micklem, Rita Barfoot, Rifat Hamoudi, Sandeep Patel, Catherine Rices, Patrick Biggs, Yasmin Hashim, Amanda Smith, Frances Connor, Adalgeir Arason, Julius GudmundssonDavid Flcenec, David Kelsell, Deborah Ford, Patricia Tonin, D. Timothy Bishop, Nigel K. Spurr, Bruce A.J. Ponder, Rosalind Eeles, Julian Peto, Peter Devilee, Cees Cornelisse, Henry Lynch, Steven Narod, Gilbert Lenoir, Valdgardur Egilsson, Rosa Bjork Barkadottir, Douglas F. Easton, David R. Bentley, P. Andrew Futreal, Alan Ashworth, Michael R. Stratton

Research output: Contribution to journalArticlepeer-review

2920 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)789-792
Number of pages4
Issue number6559
StatePublished - Dec 28 1995
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • General


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