A comprehensive catalogue of somatic mutations from a human cancer genome

Pleasance, Erin D., Cheetham, R. Keira, Stephens, Philip J., Mcbride, David J., Humphray, Sean J., Greenman, Christopher, Varela, Ignacio, Lin, Meng-lay, Ordóñez, Gonzalo R., Bignell, Graham R., Ye, Kai, Alipaz, Julie, Bauer, Markus J., Beare, David, Butler, Adam, Carter, Richard J., Chen, Lina, Cox, Anthony J., Edkins, Sarah, Kokko-gonzales, Paula I., Gormley, Niall A., Grocock, Russell J., Haudenschild, Christian D., Hims, Matthew M., James, Terena, Jia, Mingming, Kingsbury, Zoya, Leroy, Catherine, Marshall, John, Menzies, Andrew, Mudie, Laura J., Ning, Zemin, Royce, Tom, Schulz-trieglaff, Ole B., Spiridou, Anastassia, Stebbings, Lucy A., Szajkowski, Lukasz, Teague, Jon, Williamson, David, Chin, Lynda, Ross, Mark T., Campbell, Peter J., Bentley, David R., Futreal, P. Andrew and Stratton, Michael R. (2010) A comprehensive catalogue of somatic mutations from a human cancer genome. Nature, 463 (7278). pp. 191-196. ISSN 1476-4687

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Abstract

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.

Item Type: Article
Faculty \ School: Faculty of Science > School of Computing Sciences

University of East Anglia > Faculty of Science > Research Groups > Computational Biology (subgroups are shown below) > Analysis and models of genomic variation
Depositing User: Christopher Greenman
Date Deposited: 22 Jun 2011 11:02
Last Modified: 21 Apr 2020 17:19
URI: https://ueaeprints.uea.ac.uk/id/eprint/30589
DOI: 10.1038/nature08658

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