文章：

突变特征：新兴概念、警告和临床应用

Mutational signatures: emerging concepts, caveats and clinical applications

原文发布日期：2021-07-27

DOI: 10.1038/s41568-021-00377-7

类型: Review Article

开放获取: 否

英文摘要：

Whole-genome sequencing has brought the cancer genomics community into new territory. Thanks to the sheer power provided by the thousands of mutations present in each patient’s cancer, we have been able to discern generic patterns of mutations, termed ‘mutational signatures’, that arise during tumorigenesis. These mutational signatures provide new insights into the causes of individual cancers, revealing both endogenous and exogenous factors that have influenced cancer development. This Review brings readers up to date in a field that is expanding in computational, experimental and clinical directions. We focus on recent conceptual advances, underscoring some of the caveats associated with using the mutational signature frameworks and highlighting the latest experimental insights. We conclude by bringing attention to areas that are likely to see advancements in clinical applications.

摘要翻译： 

全基因组测序将癌症基因组学领域带入新境界。借助每位患者癌变中存在的数千种突变所带来的强大解析力，我们得以识别肿瘤发生过程中出现的突变通用模式——即“突变特征”。这些突变特征为个体化癌症的成因提供了新视角，揭示了影响癌症发展的内源性与外源性因素。本篇综述为读者呈现这一在计算、实验和临床方向蓬勃发展的领域最新进展，重点探讨近期概念性突破，阐明使用突变特征框架时需注意的若干问题，并展示最新的实验研究成果。最后，我们将关注重点转向临床应用可能取得突破的领域。

原文链接：

Mutational signatures: emerging concepts, caveats and clinical applications