Identification of the breast cancer susceptibility gene BRCA2
- 1 December 1995
- journal article
- Published by Springer Nature in Nature
- Vol. 378 (6559) , 789-792
- https://doi.org/10.1038/378789a0
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.Keywords
This publication has 9 references indexed in Scilit:
- Loss of heterozygosity in sporadic breast tumours at the BRCA2 locus on chromosome 13q12-q13British Journal of Cancer, 1995
- Identification by representational difference analysis of a homozygous deletion in pancreatic carcinoma that lies within the BRCA2 region.Proceedings of the National Academy of Sciences, 1995
- Localization of a Breast Cancer Susceptibility Gene, BRCA2 , to Chromosome 13q12-13Science, 1994
- The 1993–94 Généthon human genetic linkage mapNature Genetics, 1994
- Familial male breast cancer is not linked to the BRCA1 locus on chromosome 17qNature Genetics, 1994
- A new bacteriophage P1–derived vector for the propagation of large human DNA fragmentsNature Genetics, 1994
- A first-generation physical map of the human genomeNature, 1993
- Magnetic bead capture of expressed sequences encoded within large genomic segmentsNature, 1993
- Loss of heterozygosity in human ductal breast tumors indicates a recessive mutation on chromosome 13.Proceedings of the National Academy of Sciences, 1987