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Nature. 1995 Dec 21-28;378(6559):789-92.

Identification of the breast cancer susceptibility gene BRCA2.

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Section of Molecular Carcinogenesis, Haddow Laboratories, Sutton Surrey, UK.

Erratum in

  • Nature 1996 Feb 22;379(6567):749.


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.

[Indexed for MEDLINE]

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