Medulloblastoma exome sequencing uncovers subtype-specific somatic mutations

Trevor J. Pugh, Shyamal Dilhan Weeraratne, Tenley C. Archer, Daniel A. Pomeranz Krummel, Daniel Auclair, James Bochicchio, Mauricio O. Carneiro, Scott L. Carter, Kristian Cibulskis, Rachel L. Erlich, Heidi Greulich, Michael S. Lawrence, Niall J. Lennon, Aaron McKenna, James Meldrim, Alex H. Ramos, Michael G. Ross, Carsten Russ, Erica Shefler, Andrey Sivachenko, Brian Sogoloff, Petar Stojanov, Pablo Tamayo, Jill P. Mesirov, Vladimir Amani, Natalia Teider, Soma Sengupta, Jessica Pierre Francois, Paul A. Northcott, Michael D. Taylor, Furong Yu, Gerald R. Crabtree, Amanda G. Kautzman, Stacey B. Gabriel, Gad Getz, Natalie Jäger, David T. W. Jones, Peter Lichter, Stefan M. Pfister, Thomas M. Roberts, Matthew Meyerson (), Scott L. Pomeroy () and Yoon-Jae Cho ()
Additional contact information
Trevor J. Pugh: Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA
Shyamal Dilhan Weeraratne: Harvard Medical School
Tenley C. Archer: Harvard Medical School
Daniel A. Pomeranz Krummel: Brandeis University
Daniel Auclair: Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA
James Bochicchio: Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA
Mauricio O. Carneiro: Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA
Scott L. Carter: Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA
Kristian Cibulskis: Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA
Rachel L. Erlich: Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA
Heidi Greulich: Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA
Michael S. Lawrence: Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA
Niall J. Lennon: Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA
Aaron McKenna: Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA
James Meldrim: Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA
Alex H. Ramos: Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA
Michael G. Ross: Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA
Carsten Russ: Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA
Erica Shefler: Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA
Andrey Sivachenko: Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA
Brian Sogoloff: Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA
Petar Stojanov: Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA
Pablo Tamayo: Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA
Jill P. Mesirov: Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA
Vladimir Amani: Harvard Medical School
Natalia Teider: Harvard Medical School
Soma Sengupta: Harvard Medical School
Jessica Pierre Francois: Harvard Medical School
Paul A. Northcott: The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada
Michael D. Taylor: The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada
Furong Yu: Stanford University School of Medicine
Gerald R. Crabtree: Stanford University School of Medicine
Amanda G. Kautzman: Stanford University School of Medicine
Stacey B. Gabriel: Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA
Gad Getz: Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA
Natalie Jäger: German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany
David T. W. Jones: German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany
Peter Lichter: German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany
Stefan M. Pfister: German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany
Thomas M. Roberts: Center for Cancer Genome Discovery, Dana-Farber Cancer Institute
Matthew Meyerson: Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA
Scott L. Pomeroy: Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA
Yoon-Jae Cho: Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA

Nature, 2012, vol. 488, issue 7409, 106-110

Abstract: Medulloblastoma is the most common brain tumour in children; using exome sequencing of tumour samples the authors show that these cancers have low mutation rates and identify 12 significantly mutated genes, among them the gene encoding RNA helicase DDX3X.

Date: 2012
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DOI: 10.1038/nature11329

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