Mechanisms underlying mutational signatures in human cancers

被引：604

作者：

Helleday, Thomas ^{[1
]}

Eshtad, Saeed ^{[1
]}

Nik-Zainal, Serena ^{[2
,3
]}

机构：

[1] Karolinska Inst, Dept Med Biochem & Biophys, Div Translat Med & Chem Biol, Sci Life Lab, S-17121 Stockholm, Sweden

[2] Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England

[3] Cambridge Univ Hosp, NHS Trust, East Anglian Med Genet Serv, Cambridge CB2 2QQ, England

来源：

NATURE REVIEWS GENETICS | 2014年 / 15卷 / 09期

基金：

英国惠康基金;

关键词：

STRAND-BREAK REPAIR; ONCOGENE-INDUCED SENESCENCE; DNA-DAMAGE RESPONSE; HOMOLOGOUS RECOMBINATION; SOMATIC MUTATIONS; MISMATCH-REPAIR; CHROMOSOMAL TRANSLOCATIONS; MICROSATELLITE INSTABILITY; DEOXYRIBONUCLEIC-ACID; CYTOSINE DEAMINATION;

D O I：

10.1038/nrg3729

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The collective somatic mutations observed in a cancer are the outcome of multiple mutagenic processes that have been operative over the lifetime of a patient. Each process leaves a characteristic imprint - a mutational signature - on the cancer genome, which is defined by the type of DNA damage and DNA repair processes that result in base substitutions, insertions and deletions or structural variations. With the advent of whole-genome sequencing, researchers are identifying an increasing array of these signatures. Mutational signatures can be used as a physiological readout of the biological history of a cancer and also have potential use for discerning ongoing mutational processes from historical ones, thus possibly revealing new targets for anticancer therapies.

引用

页码：585 / 598

页数：14

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