A comprehensive catalogue of somatic mutations from a human cancer genome

Erin D. Pleasance, R. Keira Cheetham, Philip J. Stephens, David J. McBride, Sean J. Humphray, Chris D. Greenman, Ignacio Varela, Meng-Lay Lin, Gonzalo R. Ordóñez, Graham R. Bignell, Kai Ye, Julie Alipaz, Markus J. Bauer, David Beare, Adam Butler, Richard J. Carter, Lina Chen, Anthony J. Cox, Sarah Edkins, Paula I. Kokko-Gonzales, Niall A. Gormley, Russell J. Grocock, Christian D. Haudenschild, Matthew M. Hims, Terena James, Mingming Jia, Zoya Kingsbury, Catherine Leroy, John Marshall, Andrew Menzies, Laura J. Mudie, Zemin Ning, Tom Royce, Ole B. Schulz-Trieglaff, Anastassia Spiridou, Lucy A. Stebbings, Lukasz Szajkowski, Jon Teague, David Williamson, Lynda Chin, Mark T. Ross, Peter J. Campbell, David R. Bentley, P. Andrew Futreal () and Michael R. Stratton ()
Additional contact information
Erin D. Pleasance: Wellcome Trust Sanger Institute
R. Keira Cheetham: Illumina Cambridge Ltd, Chesterford Research Park, Little Chesterford, Essex CB10 1XL, UK
Philip J. Stephens: Wellcome Trust Sanger Institute
David J. McBride: Wellcome Trust Sanger Institute
Sean J. Humphray: Illumina Cambridge Ltd, Chesterford Research Park, Little Chesterford, Essex CB10 1XL, UK
Chris D. Greenman: Wellcome Trust Sanger Institute
Ignacio Varela: Wellcome Trust Sanger Institute
Meng-Lay Lin: Wellcome Trust Sanger Institute
Gonzalo R. Ordóñez: Wellcome Trust Sanger Institute
Graham R. Bignell: Wellcome Trust Sanger Institute
Kai Ye: Medical Statistics and Bioinformatics, Leiden University Medical Center, Einthovenweg 20, 2333 ZC Leiden, the Netherlands
Julie Alipaz: Illumina Inc., Corporate Headquarters, 9865 Towne Centre Drive, San Diego, California 92121, USA
Markus J. Bauer: Illumina Cambridge Ltd, Chesterford Research Park, Little Chesterford, Essex CB10 1XL, UK
David Beare: Wellcome Trust Sanger Institute
Adam Butler: Wellcome Trust Sanger Institute
Richard J. Carter: Illumina Cambridge Ltd, Chesterford Research Park, Little Chesterford, Essex CB10 1XL, UK
Lina Chen: Wellcome Trust Sanger Institute
Anthony J. Cox: Illumina Cambridge Ltd, Chesterford Research Park, Little Chesterford, Essex CB10 1XL, UK
Sarah Edkins: Wellcome Trust Sanger Institute
Paula I. Kokko-Gonzales: Illumina Cambridge Ltd, Chesterford Research Park, Little Chesterford, Essex CB10 1XL, UK
Niall A. Gormley: Illumina Cambridge Ltd, Chesterford Research Park, Little Chesterford, Essex CB10 1XL, UK
Russell J. Grocock: Illumina Cambridge Ltd, Chesterford Research Park, Little Chesterford, Essex CB10 1XL, UK
Christian D. Haudenschild: Illumina Hayward, 25861 Industrial Bvld, Hayward, California 94545, USA
Matthew M. Hims: Illumina Cambridge Ltd, Chesterford Research Park, Little Chesterford, Essex CB10 1XL, UK
Terena James: Illumina Cambridge Ltd, Chesterford Research Park, Little Chesterford, Essex CB10 1XL, UK
Mingming Jia: Wellcome Trust Sanger Institute
Zoya Kingsbury: Illumina Cambridge Ltd, Chesterford Research Park, Little Chesterford, Essex CB10 1XL, UK
Catherine Leroy: Wellcome Trust Sanger Institute
John Marshall: Wellcome Trust Sanger Institute
Andrew Menzies: Wellcome Trust Sanger Institute
Laura J. Mudie: Wellcome Trust Sanger Institute
Zemin Ning: Wellcome Trust Sanger Institute
Tom Royce: Illumina Inc., Corporate Headquarters, 9865 Towne Centre Drive, San Diego, California 92121, USA
Ole B. Schulz-Trieglaff: Illumina Cambridge Ltd, Chesterford Research Park, Little Chesterford, Essex CB10 1XL, UK
Anastassia Spiridou: Illumina Cambridge Ltd, Chesterford Research Park, Little Chesterford, Essex CB10 1XL, UK
Lucy A. Stebbings: Wellcome Trust Sanger Institute
Lukasz Szajkowski: Illumina Cambridge Ltd, Chesterford Research Park, Little Chesterford, Essex CB10 1XL, UK
Jon Teague: Wellcome Trust Sanger Institute
David Williamson: Illumina Hayward, 25861 Industrial Bvld, Hayward, California 94545, USA
Lynda Chin: Dana-Farber Cancer Institute, 44 Binney Street, Boston, Massachusetts 02115, USA
Mark T. Ross: Illumina Cambridge Ltd, Chesterford Research Park, Little Chesterford, Essex CB10 1XL, UK
Peter J. Campbell: Wellcome Trust Sanger Institute
David R. Bentley: Illumina Cambridge Ltd, Chesterford Research Park, Little Chesterford, Essex CB10 1XL, UK
P. Andrew Futreal: Wellcome Trust Sanger Institute
Michael R. Stratton: Wellcome Trust Sanger Institute

Nature, 2010, vol. 463, issue 7278, 191-196

Abstract: 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.

Date: 2010
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DOI: 10.1038/nature08658

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