IDENTIFICATION OF THE BREAST-CANCER SUSCEPTIBILITY GENE BRCA2
IDENTIFICATION OF THE BREAST-CANCER SUSCEPTIBILITY GENE BRCA2
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DOI：
10.1038/378789a0
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发表时间：
1995-12-21
期刊：
影响因子：
64.8
通讯作者：
STRATTON, MR
中科院分区：
文献类型：
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作者：
WOOSTER, R;BIGNELL, G;STRATTON, MR
在西欧和美国，大约十二分之一的女性患有乳腺癌。一小部分乳腺癌病例，特别是年轻时发生的乳腺癌病例，可归因于该疾病的高度外显性、常染色体显性易感性。乳腺癌易感基因 BRCA2 最近定位于染色体 13q12-q13。在这里，我们报告了一个基因的鉴定，在该基因中，我们在乳腺癌家族中检测到了六种不同的种系突变，这些突变可能是由 BRCA2 引起的。每个突变都会严重破坏转录单元的开放阅读框。结果表明，这是BRCA2基因。
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.