Petljak Mia, Alexandrov Ludmil B
Theoretical Biology and Biophysics (T-6) and Center for Nonlinear Studies, Los Alamos National Laboratory, Los Alamos, NM 87545, USA and University of New Mexico Comprehensive Cancer Center, Albuquerque, NM 87102, USA
Carcinogenesis. 2016 Jun;37(6):531-40. doi: 10.1093/carcin/bgw055. Epub 2016 May 4.
Each individual cell within a human body acquires a certain number of somatic mutations during a course of its lifetime. These mutations originate from a wide spectra of both endogenous and exogenous mutational processes that leave distinct patterns of mutations, termed mutational signatures, embedded within the genomes of all cells. In recent years, the vast amount of data produced by sequencing of cancer genomes was coupled with novel mathematical models and computational tools to generate the first comprehensive map of mutational signatures in human cancer. Up to date, >30 distinct mutational signatures have been identified, and etiologies have been proposed for many of them. This review provides a brief historical background on examination of mutational patterns in human cancer, summarizes the knowledge accumulated since introducing the concept of mutational signatures and discusses their future potential applications and perspectives within the field.
人体中的每个细胞在其生命周期内都会获得一定数量的体细胞突变。这些突变源自各种各样的内源性和外源性突变过程，这些过程会在所有细胞的基因组中留下独特的突变模式，即所谓的突变特征。近年来，癌症基因组测序产生的大量数据与新颖的数学模型和计算工具相结合，生成了人类癌症中首张全面的突变特征图谱。截至目前，已识别出超过30种不同的突变特征，并针对其中许多特征提出了病因。本综述提供了关于人类癌症突变模式研究的简要历史背景，总结了自引入突变特征概念以来积累的知识，并讨论了它们在该领域未来的潜在应用和前景。
