Understanding mutagenesis through delineation of mutational signatures in human cancer

被引：64

作者：

Petljak, Mia ^{[1
]}

Alexandrov, Ludmil B. ^{[2
,3
,4
]}

机构：

[1] Wellcome Trust Sanger Inst, Canc Genome Project, Wellcome Trust Genome Campus, Hinxton CB10 1SA, Cambs, England

[2] Los Alamos Natl Lab, Theoret Biol & Biophys T 6, POB 1663, Los Alamos, NM 87545 USA

[3] Los Alamos Natl Lab, Ctr Nonlinear Studies, POB 1663, Los Alamos, NM 87545 USA

[4] Univ New Mexico, Ctr Comprehens Canc, Albuquerque, NM 87102 USA

来源：

CARCINOGENESIS | 2016年 / 37卷 / 06期

基金：

美国能源部;

关键词：

IDENTIFIES RECURRENT MUTATIONS; SOMATIC MUTATIONS; DNA-DAMAGE; GENOMIC COMPLEXITY; GENETIC LANDSCAPE; FREQUENT MUTATION; DRIVER MUTATIONS; P53; MUTATIONS; LUNG-CANCER; EXOME;

D O I：

10.1093/carcin/bgw055

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

In recent years, the concept of mutational signatures was introduced and deciphering of mutational signatures from thousands of cancer genomes has provided deep insights into DNA repair and mutagenesis. In this review, we summarize the current knowledge of mutational signatures.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.

引用

页码：531 / 540

页数：10

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