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.
This is a preview of subscription content, access via your institution
Access options
Subscribe to this journal
Receive 51 print issues and online access
$199.00 per year
only $3.90 per issue
Buy this article
- Purchase on Springer Link
- Instant access to full article PDF
Prices may be subject to local taxes which are calculated during checkout
Similar content being viewed by others
References
Easton, D. F., Bishop, D. T., Ford, D. & Crockford, G. P. Am. J. hum. Genet. 52, 678–701 (1993).
Wooster, R. et al. Science 265, 2088–2090 (1994).
Gyapay, G. et al. Nature Genet. 7, 246–339 (1994).
Schutte, M. et al. Proc. natn. Acad. Sci. U.S.A. 92, 5950–5954 (1995).
Schutte, M. et al. Cancer Res. 55, 4570–4574 (1995).
Cohen, D., Chumakov, I. & Weissenbach, J. Nature 366, 698–701 (1993).
Ioannou, P. A. et al. Nature Genet. 6, 84–89 (1994).
Nehls, M., Pfeifer, D. & Boehm, T. Oncogene 9, 2169–2175 (1994).
Tagle, D. A., Swaroop, M., Lovett, M. & Collins, F. S. Nature 361, 751–753 (1993).
Stratton, M. R. et al. Nature Genet. 7, 103–107 (1994).
Devilee, P. & Cornelisse, C. J. Biochim. biophys. Acta 1198, 113–130 (1994).
Lundberg, C., Skoog, L., Cavenee, W. K. & Nordenskjold, M. Proc. natn. Acad. Sci. U.S.A. 84, 2372–2376 (1987).
Cleton-Jansen, A.-M. et al. Br. J. Cancer 72, 1241–1244 (1995).
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Wooster, R., Bignell, G., Lancaster, J. et al. Identification of the breast cancer susceptibility gene BRCA2. Nature 378, 789–792 (1995). https://doi.org/10.1038/378789a0
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1038/378789a0
This article is cited by
-
Increased risk of contralateral breast cancer for BRCA1/2 wild-type, high-risk Korean breast cancer patients: a retrospective cohort study
Breast Cancer Research (2024)
-
DNA Methylation of BRCA1, BRCA2, and TP53 Promoters as Biomarker for the Early Diagnosis of Simian Virus 40-Related Breast Carcinoma
Indian Journal of Gynecologic Oncology (2024)
-
Ethnicity-specific BRCA1, BRCA2, PALB2, and ATM pathogenic alleles in breast and ovarian cancer patients from the North Caucasus
Breast Cancer Research and Treatment (2024)
-
Prevalence of BRCA1, BRCA2, and PALB2 genomic alterations among 924 Taiwanese breast cancer assays with tumor-only targeted sequencing: extended data analysis from the VGH-TAYLOR study
Breast Cancer Research (2023)
-
Occurrence of variants of unknown clinical significance in genetic testing for hereditary breast and ovarian cancer syndrome and Lynch syndrome: a literature review and analytical observational retrospective cohort study
BMC Medical Genomics (2023)
Comments
By submitting a comment you agree to abide by our Terms and Community Guidelines. If you find something abusive or that does not comply with our terms or guidelines please flag it as inappropriate.