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The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds

Tavtigian, S. V. and Shizuya, H. (1996) The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds. Nature Genetics, 12 (3). pp. 333-337. ISSN 1061-4036. doi:10.1038/ng0396-333.

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Breast carcinoma is the most common malignancy among women in developed countries. Because family history remains the strongest single predictor of breast cancer risk, attention has focused on the role of highly penetrant, dominantly inherited genes in cancer-prone kindreds. BRCA1 was localized to chromosome 17 through analysis of a set of high-risk kindreds, and then identified four years later by a positional cloning strategy. BRCA2 was mapped to chromosomal 13q at about the same time. Just fifteen months later, Wooster et al. reported a partial BRCA2 sequence and six mutations predicted to cause truncation of the BRCA2 protein. While these findings provide strong evidence that the identified gene corresponds to BRCA2, only two thirds of the coding sequence and 8 out of 27 exons were isolated and screened; consequently, several questions remained unanswered regarding the nature of BRCA2 and the frequency of mutations in 13q-linked families. We have now determined the complete coding sequence and exonic structure of BRCA2 (GenBank accession #U43746), and examined its pattern of expression. Here, we provide sequences for a set of PCR primers sufficient to screen the entire coding sequence of BRCA2 using genomic DMA. We also report a mutational analysis of BRCA2 in families selected on the basis of linkage analysis and/or the presence of one or more cases of male breast cancer. Together with the specific mutations described previously, our data provide preliminary insight into the BRCA2 mutation profile.

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Additional Information:© 1996 Nature Publishing Group. Received 11 January; accepted 6 February 1996. J.M.R. and J.S. are Scholars of the Medical Research Council of Canada. J.S. and F.L. are supported by the Medical Research Council of Canada and Endorecherche, Inc. This work was supported by NIH grants CA57601 (B.W.)and F32 CA67403 (F.C.), S.D.M. is supported by grant GCRC-MCAP-3MO1RR00042-34S1. J.E.E. and S.T. are supported by the Icelandic Cancer Society Science Fund. S.N., L.C.-A., M.H.S. and D.E.G. are supported by the U.S. Army grant DAMD17-94-J4260 and NIH grants CA55914, CA48711, CA65673, RR00064, CN05222 and CA42014.
Funding AgencyGrant Number
Medical Research Council of CanadaUNSPECIFIED
Endorecherche, IncUNSPECIFIED
NIHF32 CA67403
Icelandic Cancer Society Science FundUNSPECIFIED
Army Research Office (ARO)DAMD17-94-J4260
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ID Code:48506
Deposited By: Ruth Sustaita
Deposited On:13 Aug 2014 19:24
Last Modified:10 Nov 2021 18:32

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