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Identification of the breast cancer susceptibility gene BRCA2.

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Authors
Wooster, R
Bignell, G
Lancaster, J
Swift, S
Seal, S
Mangion, J
Collins, N
Gregory, S
Gumbs, C
Micklem, G
Gudmundsson, J
Barkadottir, R B
Arason, A
Egilsson, V
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Issue Date
1995-12-21

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Citation
Nature. 1995, 378(6559):789-92
Abstract
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.
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http://dx.doi.org/10.1038/378789a0
ae974a485f413a2113503eed53cd6c53
10.1038/378789a0
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