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.

全基因组测序将癌症基因组学界带入了新的领域。由于每个患者癌症中存在的数千个突变所提供的绝对力量，我们已经能够辨别出在肿瘤发生过程中出现的一般突变模式，称为“突变特征”。这些突变特征提供了对个体癌症成因的新见解，揭示了影响癌症发展的内源性和外源性因素。这篇评论为读者提供了一个在计算、实验和临床方向上不断扩展的领域的最新信息。我们关注最近的概念进展，强调与使用突变签名框架相关的一些注意事项，并强调最新的实验见解。