In Brief: BRCA1 and BRCA2

被引:74
作者
Foulkes, William D. [1 ]
Shuen, Andrew Y. [2 ]
机构
[1] McGill Univ, Dept Oncol & Human Genet, Program Canc Genet, Montreal, PQ H2W 1S6, Canada
[2] McGill Univ, Dept Human Genet, Montreal, PQ H2W 1S6, Canada
关键词
breast cancer; ovarian cancer; DNA repair; pathology; triple negative; targeted therapy; PARP; cisplatinum;
D O I
10.1002/path.4205
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
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.
引用
收藏
页码:347 / 349
页数:3
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