IDENTIFICATION OF THE BREAST-CANCER SUSCEPTIBILITY GENE BRCA2

IN Western Europe and the United States approximately 1 in 12 women de velop breast cancer. A small proportion of breast cancer cases, in par ticular those arising at a young age, are attributable to a highly pen etrant, autosomal dominant predisposition to the disease. The breast c ancer susceptibility gene, BRCA2, was recently localized to chromosome 13q12-q13. Here we report the identification of a gene in which we ha ve detected six different germline mutations in breast cancer families that are likely to be due to BRCA2. Each mutation causes serious disr uption to the open reading frame of the transcriptional unit. The resu lts indicate that this is the BRCA2 gene.