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Medulloblastoma exome sequencing uncovers subtype-specific somatic mutations

Author

Listed:
  • Trevor J. Pugh

    (Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA
    Center for Cancer Genome Discovery, Dana-Farber Cancer Institute
    Harvard Medical School)

  • Shyamal Dilhan Weeraratne

    (Harvard Medical School
    Children’s Hospital Boston)

  • Tenley C. Archer

    (Harvard Medical School
    Children’s Hospital Boston)

  • 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
    Center for Cancer Genome Discovery, Dana-Farber Cancer Institute
    Harvard Medical School)

  • 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
    Center for Cancer Genome Discovery, Dana-Farber Cancer Institute
    Harvard Medical School)

  • 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
    Children’s Hospital Boston)

  • Natalia Teider

    (Harvard Medical School
    Children’s Hospital Boston)

  • Soma Sengupta

    (Harvard Medical School
    Children’s Hospital Boston)

  • Jessica Pierre Francois

    (Harvard Medical School
    Children’s Hospital Boston)

  • 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
    Howard Hughes Medical Institute at Stanford University)

  • 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
    Harvard Medical School)

  • Matthew Meyerson

    (Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA
    Center for Cancer Genome Discovery, Dana-Farber Cancer Institute
    Harvard Medical School
    Brigham and Women’s Hospital)

  • Scott L. Pomeroy

    (Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA
    Harvard Medical School
    Children’s Hospital Boston)

  • Yoon-Jae Cho

    (Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA
    Harvard Medical School
    Children’s Hospital Boston
    Stanford University School of Medicine)

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.

Suggested Citation

  • 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., 2012. "Medulloblastoma exome sequencing uncovers subtype-specific somatic mutations," Nature, Nature, vol. 488(7409), pages 106-110, August.
    • Handle: RePEc:nat:nature:v:488:y:2012:i:7409:d:10.1038_nature11329
    DOI: 10.1038/nature11329
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    Citations

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    Cited by:

    1. Elizabeth J. Radford & Hong-Kee Tan & Malin H. L. Andersson & James D. Stephenson & Eugene J. Gardner & Holly Ironfield & Andrew J. Waters & Daniel Gitterman & Sarah Lindsay & Federico Abascal & Iñigo, 2023. "Saturation genome editing of DDX3X clarifies pathogenicity of germline and somatic variation," Nature Communications, Nature, vol. 14(1), pages 1-17, December.
    2. Michelle M. Kameda-Smith & Helen Zhu & En-Ching Luo & Yujin Suk & Agata Xella & Brian Yee & Chirayu Chokshi & Sansi Xing & Frederick Tan & Raymond G. Fox & Ashley A. Adile & David Bakhshinyan & Kevin , 2022. "Characterization of an RNA binding protein interactome reveals a context-specific post-transcriptional landscape of MYC-amplified medulloblastoma," Nature Communications, Nature, vol. 13(1), pages 1-19, December.
    3. Zaili Luo & Dazhuan Xin & Yunfei Liao & Kalen Berry & Sean Ogurek & Feng Zhang & Liguo Zhang & Chuntao Zhao & Rohit Rao & Xinran Dong & Hao Li & Jianzhong Yu & Yifeng Lin & Guoying Huang & Lingli Xu &, 2023. "Loss of phosphatase CTDNEP1 potentiates aggressive medulloblastoma by triggering MYC amplification and genomic instability," Nature Communications, Nature, vol. 14(1), pages 1-19, December.
    4. Suijuan Zhong & Mengdi Wang & Luwei Huang & Youqiao Chen & Yuxin Ge & Jiyao Zhang & Yingchao Shi & Hao Dong & Xin Zhou & Bosong Wang & Tian Lu & Xiaoxi Jing & Yufeng Lu & Junjing Zhang & Xiaoqun Wang , 2023. "Single-cell epigenomics and spatiotemporal transcriptomics reveal human cerebellar development," Nature Communications, Nature, vol. 14(1), pages 1-17, December.

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