In Brief: BRCA1 and BRCA2
In Brief: BRCA1 and BRCA2
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DOI：
10.1002/path.4205
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发表时间：
2013-08-01
影响因子：
7.3
通讯作者：
Shuen, Andrew Y.
中科院分区：
文献类型：
--
作者：
Foulkes, William D.;Shuen, Andrew Y.
第一个主要的乳腺癌易感基因BRCA1的发现发生在大约20年前。BRCA1和BRCA2仍然是人类癌症遗传学中最重要的发现。确定这两种肿瘤抑制基因的高渗透性突变对高危妇女及其家庭、照顾这些人的保健专业人员和基础研究人员具有广泛的影响。BRCA蛋白具有许多关键功能，从临床角度来看，其中最值得注意的是修复双链DNA断裂。版权所有(c) 2013大不列颠和爱尔兰病理学会。约翰·威利父子有限公司出版。
The discovery of the first major breast cancer susceptibility gene, BRCA1, occurred almost 20 years ago. BRCA1, together with BRCA2 remain the most important discoveries in human cancer genetics. Identification of highly penetrant mutations in these two tumour suppressor genes has had broad implications for women at risk and their families, for health professionals caring for these persons and for basic researchers. The BRCA proteins have many critical functions, the most notable of which, from a clinical perspective, is repair of double-strand DNA breaks. Copyright (c) 2013 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.