Realizing the promise of cancer predisposition genes.
Realizing the promise of cancer predisposition genes.
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DOI：
10.1038/nature12981
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发表时间：
2014-01-16
期刊：
影响因子：
64.8
通讯作者：
Rahman N
中科院分区：
文献类型：
--
作者：
Rahman N
种系突变导致癌症风险高或中度增加的基因称为癌症易感基因（CPG）。已鉴定出 100 多种 CPG，它们在许多领域提供了重要的科学见解，特别是癌症致病机制。此外，CPG 的临床应用对癌症的诊断、优化管理和预防产生了重大影响。 DNA 测序领域最近的革命性进展带来了更多 CPG 发现和更广泛的临床应用的希望。然而，错误推论和不适当的临床应用也有相当大的可能性。因此，要实现癌症易感基因对科学和医学的承诺需要仔细导航。
Genes in which germline mutations confer high or moderate increased risks of cancer are called cancer predisposition genes (CPG). Over 100 CPGs have been identified providing important scientific insights in many areas, particularly mechanisms of cancer causation. Moreover, clinical utilisation of CPGs has had substantial impact in diagnosis, optimised management and prevention of cancer. The recent transformative advances in DNA sequencing bring the promise of many more CPG discoveries and greater, broader clinical applications. However, there is also considerable potential for incorrect inferences and inappropriate clinical applications. Realising the promise of cancer predisposition genes for science and medicine will thus require careful navigation.