盡管所有癌癥都被認(rèn)為是由體細(xì)胞突變（身體中除生殖細(xì)胞以外的任何細(xì)胞的突變）造成的,，但我們對(duì)所涉及的突變過程相對(duì)來說卻知之甚少。這項(xiàng)研究分析了來自超過7000癌癥的近500萬突變,，發(fā)現(xiàn)了超過20個(gè)與癌癥相關(guān)的不同突變特征,。這些特征中有些存在于很多癌癥中，其中一個(gè)特征屬于APOBEC家族的胞苷脫氨酶,，而其他特征則是個(gè)別腫瘤類型特有的,。有些特征與年齡、已知誘變因素或DNA維護(hù)中的缺陷有關(guān),，但很多的來源卻很神秘,。這些發(fā)現(xiàn)對(duì)于了解癌癥病因、預(yù)防和治療有潛在意義,。（生物谷Bioon.com）
生物谷推薦英文摘要：
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.
