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

Author

Listed:
  • 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
    Centre Expert National Cancer Rares INCa “PREDIR”, Service d’Urologie, Hôpital de Bicêtre, AP-HP, 94276 Le Kremlin-Bicêtre, 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
    Institut für Theoretische Physik, Universität zu Köln, Zülpicherstrasse 77, 50937 Köln, Germany)

  • 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
    Laboratory of Cancer Therapeutics, DUKE-NUS Graduate Medical School
    Laboratory of Cancer Genetics, Van Andel Research Institute, Grand Rapids, Michigan, 49503, USA)

  • Michael R. Stratton

    (Cancer Genome Project, Wellcome Trust Sanger Institute
    Institute of Cancer Research, Sutton, Surrey SM2 5NG, UK)

  • P. Andrew Futreal

    (Cancer Genome Project, Wellcome Trust Sanger Institute)

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.

Suggested Citation

  • 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 & G, 2011. "Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma," Nature, Nature, vol. 469(7331), pages 539-542, January.
    • Handle: RePEc:nat:nature:v:469:y:2011:i:7331:d:10.1038_nature09639
    DOI: 10.1038/nature09639
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