A comprehensive catalogue of somatic mutations from a human cancer genome

被引：1221

作者：

Pleasance, Erin D. ^{[1
]}

Cheetham, R. Keira ^{[2
]}

Stephens, Philip J. ^{[1
]}

McBride, David J. ^{[1
]}

Humphray, Sean J. ^{[2
]}

Greenman, Chris D. ^{[1
]}

Varela, Ignacio ^{[1
]}

Lin, Meng-Lay ^{[1
]}

Ordonez, Gonzalo R. ^{[1
]}

Bignell, Graham R. ^{[1
]}

Ye, Kai ^{[3
,4
]}

Alipaz, Julie ^{[5
]}

Bauer, Markus J. ^{[2
]}

Beare, David ^{[1
]}

Butler, Adam ^{[1
]}

Carter, Richard J. ^{[2
]}

Chen, Lina ^{[1
]}

Cox, Anthony J. ^{[2
]}

Edkins, Sarah ^{[1
]}

Kokko-Gonzales, Paula I. ^{[2
]}

Gormley, Niall A. ^{[2
]}

Grocock, Russell J. ^{[2
]}

Haudenschild, Christian D. ^{[6
]}

Hims, Matthew M. ^{[2
]}

James, Terena ^{[2
]}

Jia, Mingming ^{[1
]}

Kingsbury, Zoya ^{[2
]}

Leroy, Catherine ^{[1
]}

Marshall, John ^{[1
]}

Menzies, Andrew ^{[1
]}

Mudie, Laura J. ^{[1
]}

Ning, Zemin ^{[1
]}

Royce, Tom ^{[5
]}

Schulz-Trieglaff, Ole B. ^{[2
]}

Spiridou, Anastassia ^{[2
]}

Stebbings, Lucy A. ^{[1
]}

Szajkowski, Lukasz ^{[2
]}

Teague, Jon ^{[1
]}

Williamson, David ^{[6
]}

Chin, Lynda ^{[7
]}

Ross, Mark T. ^{[2
]}

Campbell, Peter J. ^{[1
]}

Bentley, David R. ^{[2
]}

Futreal, P. Andrew ^{[1
]}

Stratton, Michael R. ^{[1
,8
]}

机构：

[1] Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England

[2] Illumina Cambridge Ltd, Saffron Walden CB10 1XL, Essex, England

[3] Leiden Univ, Med Ctr, Dept Mol Epidemiol, NL-2333 ZC Leiden, Netherlands

[4] Leiden Univ, Med Ctr, Dept Med Stat & Bioinformat, NL-2333 ZC Leiden, Netherlands

[5] Illumina Inc, Corp Headquarters, San Diego, CA 92121 USA

[6] Illumina Hayward, Hayward, CA 94545 USA

[7] Dana Farber Canc Inst, Boston, MA 02115 USA

[8] Inst Canc Res, Sutton SM2 5NG, Surrey, England

来源：

NATURE | 2010年 / 463卷 / 7278期

基金：

英国惠康基金;

关键词：

NUCLEOTIDE EXCISION-REPAIR; ETS TRANSCRIPTION FACTOR; CARCINOGENESIS; EPIDEMIOLOGY; MECHANISMS; PATHWAYS; RECEPTOR; BREAST;

D O I：

10.1038/nature08658

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

All cancers carry somatic mutations. A subset of these somatic alterations, termed driver mutations, confer selective growth advantage and are implicated in cancer development, whereas the remainder are passengers. Here we have sequenced the genomes of a malignant melanoma and a lymphoblastoid cell line from the same person, providing the first comprehensive catalogue of somatic mutations from an individual cancer. The catalogue provides remarkable insights into the forces that have shaped this cancer genome. The dominant mutational signature reflects DNA damage due to ultraviolet light exposure, a known risk factor for malignant melanoma, whereas the uneven distribution of mutations across the genome, with a lower prevalence in gene footprints, indicates that DNA repair has been preferentially deployed towards transcribed regions. The results illustrate the power of a cancer genome sequence to reveal traces of the DNA damage, repair, mutation and selection processes that were operative years before the cancer became symptomatic.

引用

页码：191 / U73

页数：7

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