Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma

Ignacio Varela, Patrick Tarpey, Keiran Raine, Dachuan Huang, Choon Kiat Ong, Philip Stephens, Helen Davies, David Jones, Meng-Lay Lin, Jon Teague, Graham Bignell, Adam Butler, Juok Cho, Gillian L. Dalgliesh, Danushka Galappaththige, Chris Greenman, Claire Hardy, Mingming Jia, Calli Latimer, King Wai Lau, John Marshall, Stuart McLaren, Andrew Menzies, Laura Mudie, Lucy Stebbings, David A. Largaespada, L. F. A. Wessels, Stephane Richard, Richard J. Kahnoski, John Anema, David A.Tuveson, Pedro A. Perez-Mancera, Ville Mustonen, Andrej Fischer, David J. Adams, Alistair Rust, Waraporn Chan-on, Chutima Subimerb, Karl Dykema, Kyle Furge, Peter J. Campbell, Bin Tean Teh (), Michael R. Stratton () and P. Andrew Futreal ()
Additional contact information
Ignacio Varela: Cancer Genome Project, Wellcome Trust Sanger Institute
Patrick Tarpey: Cancer Genome Project, Wellcome Trust Sanger Institute
Keiran Raine: Cancer Genome Project, Wellcome Trust Sanger Institute
Dachuan Huang: NCCS-VARI Translational Research Laboratory, National Cancer Centre Singapore, 11 Hospital Drive
Choon Kiat Ong: NCCS-VARI Translational Research Laboratory, National Cancer Centre Singapore, 11 Hospital Drive
Philip Stephens: Cancer Genome Project, Wellcome Trust Sanger Institute
Helen Davies: Cancer Genome Project, Wellcome Trust Sanger Institute
David Jones: Cancer Genome Project, Wellcome Trust Sanger Institute
Meng-Lay Lin: Cancer Genome Project, Wellcome Trust Sanger Institute
Jon Teague: Cancer Genome Project, Wellcome Trust Sanger Institute
Graham Bignell: Cancer Genome Project, Wellcome Trust Sanger Institute
Adam Butler: Cancer Genome Project, Wellcome Trust Sanger Institute
Juok Cho: Cancer Genome Project, Wellcome Trust Sanger Institute
Gillian L. Dalgliesh: Cancer Genome Project, Wellcome Trust Sanger Institute
Danushka Galappaththige: Cancer Genome Project, Wellcome Trust Sanger Institute
Chris Greenman: Cancer Genome Project, Wellcome Trust Sanger Institute
Claire Hardy: Cancer Genome Project, Wellcome Trust Sanger Institute
Mingming Jia: Cancer Genome Project, Wellcome Trust Sanger Institute
Calli Latimer: Cancer Genome Project, Wellcome Trust Sanger Institute
King Wai Lau: Cancer Genome Project, Wellcome Trust Sanger Institute
John Marshall: Cancer Genome Project, Wellcome Trust Sanger Institute
Stuart McLaren: Cancer Genome Project, Wellcome Trust Sanger Institute
Andrew Menzies: Cancer Genome Project, Wellcome Trust Sanger Institute
Laura Mudie: Cancer Genome Project, Wellcome Trust Sanger Institute
Lucy Stebbings: Cancer Genome Project, Wellcome Trust Sanger Institute
David A. Largaespada: Masonic Cancer Center, University of Minnesota
L. F. A. Wessels: Bioinformatics and Statistics, The Netherlands Cancer Institute, Plesmanlaan 121, 1066 CX Amsterdam, The Netherlands
Stephane Richard: Génétique Oncologique EPHE-INSERM U753, Faculté de Médecine Paris-Sud and Institut de Cancérologie Gustave Roussy, 94805 Villejuif, France
Richard J. Kahnoski: Spectrum Health Hospital
John Anema: Spectrum Health Hospital
David A.Tuveson: Li Ka Shing Centre, Cambridge Research Institute, Cancer Research UK, Robinson Way, Cambridge CB2 0RE, UK
Pedro A. Perez-Mancera: Li Ka Shing Centre, Cambridge Research Institute, Cancer Research UK, Robinson Way, Cambridge CB2 0RE, UK
Ville Mustonen: Bioinformatics, Wellcome Trust Sanger Institute, Hinxton CB10 1SA, UK
Andrej Fischer: Bioinformatics, Wellcome Trust Sanger Institute, Hinxton CB10 1SA, UK
David J. Adams: Experimental Cancer Genetics, Wellcome Trust Sanger Institute, Hinxton CB10 1SA, UK
Alistair Rust: Experimental Cancer Genetics, Wellcome Trust Sanger Institute, Hinxton CB10 1SA, UK
Waraporn Chan-on: NCCS-VARI Translational Research Laboratory, National Cancer Centre Singapore, 11 Hospital Drive
Chutima Subimerb: NCCS-VARI Translational Research Laboratory, National Cancer Centre Singapore, 11 Hospital Drive
Karl Dykema: Laboratory of Computational Biology, Van Andel Research Institute
Kyle Furge: Laboratory of Computational Biology, Van Andel Research Institute
Peter J. Campbell: Cancer Genome Project, Wellcome Trust Sanger Institute
Bin Tean Teh: NCCS-VARI Translational Research Laboratory, National Cancer Centre Singapore, 11 Hospital Drive
Michael R. Stratton: Cancer Genome Project, Wellcome Trust Sanger Institute
P. Andrew Futreal: Cancer Genome Project, Wellcome Trust Sanger Institute

Nature, 2011, vol. 469, issue 7331, 539-542

Abstract: Renal-carcinoma-inducing oncogene Using large-scale exome sequencing, Andrew Futreal and colleagues have identified a second frequently mutated gene (after VHL) in clear cell renal cell carcinomas, the most frequent type of kidney cancer. PBRM1, a member of the SWI/SNF complex involved in transcriptional regulation, is mutated in about 40% of cases and is shown to function as a tumour suppressor gene. PBRM1 was independently found as a putative cancer gene involved in pancreatic cancer in a mouse transposon screen. These results — together with the fact that other components of the same complex are known cancer genes — unambiguously identify PBRM1 as a major cancer gene.

Date: 2011
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DOI: 10.1038/nature09639

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