尽管所有癌症都被认为是由体细胞突变（身体中除生殖细胞以外的任何细胞的突变）造成的，但我们对所涉及的突变过程相对来说却知之甚少。这项研究分析了来自超过7000癌症的近500万突变，发现了超过20个与癌症相关的不同突变特征。这些特征中有些存在于很多癌症中，其中一个特征属于APOBEC家族的胞苷脱氨酶，而其他特征则是个别肿瘤类型特有的。有些特征与年龄、已知诱变因素或DNA维护中的缺陷有关，但很多的来源却很神秘。这些发现对于了解癌症病因、预防和治疗有潜在意义。（生物谷Bioon.com）
生物谷推荐英文摘要：
Nature doi: 10.1038/nature12477
Signatures of mutational processes in human cancer
Ludmil B. Alexandrov,Serena Nik-Zainal,David C. Wedge,Samuel A. J. R. Aparicio,Sam Behjati, Andrew V. Biankin,Graham R. Bignell,Niccolò Bolli,Ake Borg, Anne-Lise Brresen-Dale,Sandrine Boyault, Birgit Burkhardt,Adam P. Butler,Carlos Caldas,Helen R. Davies,Christine Desmedt,Roland Eils,Jórunn Erla Eyfjrd, John A. Foekens,Mel Greaves,Fumie Hosoda,Barbara Hutter,Tomislav Ilicic, Sandrine Imbeaud,Marcin Imielinsk et al.
All cancers are caused by somatic mutations; however, understanding of the biological processes generating these mutations is limited. The catalogue of somatic mutations from a cancer genome bears the signatures of the mutational processes that have been operative. Here we analysed 4,938,362 mutations from 7,042 cancers and extracted more than 20 distinct mutational signatures. Some are present in many cancer types, notably a signature attributed to the APOBEC family of cytidine deaminases, whereas others are confined to a single cancer class. Certain signatures are associated with age of the patient at cancer diagnosis, known mutagenic exposures or defects in DNA maintenance, but many are of cryptic origin. In addition to these genome-wide mutational signatures, hypermutation localized to small genomic regions, ‘kataegis’, is found in many cancer types. The results reveal the diversity of mutational processes underlying the development of cancer, with potential implications for understanding of cancer aetiology, prevention and therapy.
