Evidence map›Paper›PMID 28726821›Full record

ArticleNature2017

The whole-genome landscape of medulloblastoma subtypes.

Paul A Northcott, Ivo Buchhalter, A Sorana Morrissy, Volker Hovestadt, Joachim Weischenfeldt, Tobias Ehrenberger, Susanne Gröbner, Maia Segura-Wang, Thomas Zichner, Vasilisa A Rudneva and 77 more

Open access · hybridAbstract read
In one paragraph

Article in Nature, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 717 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
717citing papers in PubMed, 3 pooled it
54.5field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

717 citing papers in PubMed, 3 syntheses or guidelines pooled it, 1,165 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Systematic review and meta-analysis of bulk RNAseq studies in human Alzheimer's disease brain tissue.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025
    Pooled it
  4. Article
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  6. Article
  7. Article
  8. Article
  9. Article
  10. Article
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  12. Genome-wide DNA methylation analysis of pediatric medulloblastomas from a Brazilian cohort: an exploratory study.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2026
    Article
  13. 3D chromatin structure remodelling in cancer.Cell communication and signaling : CCS · 2026
    Review
  14. Article
  15. Article
  16. Article
  17. From developmental origins to relapse: molecular and therapeutic insights in medulloblastoma.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2026
    Review
  18. Article
  19. Article
  20. Article

657 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

87 authors at 20 institutions in 7 countries.

Paul A NorthcottDivision of Pediatric Neurooncology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Ivo BuchhalterDivision of Theoretical Bioinformatics, German Cancer Research Center (DKFZ), Heidelberg, Germany.
A Sorana MorrissyDevelopmental &Stem Cell Biology Program, The Hospital for Sick Children, Toronto, Ontario.
Volker HovestadtDivision of Molecular Genetics, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Joachim WeischenfeldtBiotech Research &Innovation Centre (BRIC), Copenhagen University and Finsen Laboratory, Rigshospitalet, Denmark.
Tobias EhrenbergerDepartment of Biological Engineering, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA.
Susanne GröbnerDivision of Pediatric Neurooncology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Maia Segura-WangGenome Biology Unit, European Molecular Biology Laboratory (EMBL), Heidelberg, Germany.
Thomas ZichnerGenome Biology Unit, European Molecular Biology Laboratory (EMBL), Heidelberg, Germany.
Vasilisa A RudnevaGenome Biology Unit, European Molecular Biology Laboratory (EMBL), Heidelberg, Germany.
Hans-Jörg WarnatzMax Planck Institute for Molecular Genetics, Department of Vertebrate Genomics, Berlin, Germany.
Nikos SidiropoulosBiotech Research &Innovation Centre (BRIC), Copenhagen University and Finsen Laboratory, Rigshospitalet, Denmark.
Aaron H PhillipsDepartment of Structural Biology, St Jude Children's Research Hospital, Memphis, Tennessee, USA.
Steven SchumacherBroad Institute of Harvard and MIT, Cambridge, Massachusetts, USA.
Kortine KleinheinzDivision of Theoretical Bioinformatics, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Sebastian M WaszakGenome Biology Unit, European Molecular Biology Laboratory (EMBL), Heidelberg, Germany.
Serap ErkekDivision of Pediatric Neurooncology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
David T W JonesDivision of Pediatric Neurooncology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Barbara C WorstDivision of Pediatric Neurooncology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Marcel KoolDivision of Pediatric Neurooncology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Marc ZapatkaDivision of Molecular Genetics, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Natalie JägerDivision of Theoretical Bioinformatics, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Lukas ChavezDivision of Pediatric Neurooncology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Barbara HutterDivision of Applied Bioinformatics, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Matthias BiegDivision of Theoretical Bioinformatics, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Nagarajan ParamasivamDivision of Theoretical Bioinformatics, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Michael HeinoldDivision of Theoretical Bioinformatics, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Zuguang GuDivision of Theoretical Bioinformatics, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Naveed IshaqueDivision of Theoretical Bioinformatics, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Christina Jäger-SchmidtDivision of Theoretical Bioinformatics, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Charles D ImbuschDivision of Applied Bioinformatics, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Alke JugoldDivision of Theoretical Bioinformatics, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Daniel HübschmannDivision of Theoretical Bioinformatics, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Thomas RischMax Planck Institute for Molecular Genetics, Department of Vertebrate Genomics, Berlin, Germany.
Vyacheslav AmstislavskiyMax Planck Institute for Molecular Genetics, Department of Vertebrate Genomics, Berlin, Germany.
Francisco German Rodriguez GonzalezBiotech Research &Innovation Centre (BRIC), Copenhagen University and Finsen Laboratory, Rigshospitalet, Denmark.
Ursula D WeberDivision of Molecular Genetics, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Stephan WolfGenomics and Proteomics Core Facility, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Giles W RobinsonDepartment of Oncology, St Jude Children's Research Hospital, Memphis, Tennessee, USA.
Xin ZhouDepartment of Computational Biology, St Jude Children's Research Hospital, Memphis, Tennessee, USA.
Gang WuDepartment of Computational Biology, St Jude Children's Research Hospital, Memphis, Tennessee, USA.
David FinkelsteinDepartment of Computational Biology, St Jude Children's Research Hospital, Memphis, Tennessee, USA.
Yanling LiuDepartment of Computational Biology, St Jude Children's Research Hospital, Memphis, Tennessee, USA.
Florence M G CavalliDevelopmental &Stem Cell Biology Program, The Hospital for Sick Children, Toronto, Ontario.
Betty LuuDevelopmental &Stem Cell Biology Program, The Hospital for Sick Children, Toronto, Ontario.
Vijay RamaswamyDevelopmental &Stem Cell Biology Program, The Hospital for Sick Children, Toronto, Ontario.
Xiaochong WuDevelopmental &Stem Cell Biology Program, The Hospital for Sick Children, Toronto, Ontario.
Jan KosterDepartment of Oncogenomics, Amsterdam Medical Center, Amsterdam, Netherlands.
Marina RyzhovaDepartment of Neuropathology, NN Burdenko Neurosurgical Institute, Moscow, Russia.
Yoon-Jae ChoDepartment of Pediatrics, Papé Family Pediatric Research Institute, Knight Cancer Institute, Oregon Health and Science University, Portland, Oregon, USA.
Scott L PomeroyDepartment of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
Christel Herold-MendeDepartment of Neurosurgery, University Clinic, Heidelberg University, Heidelberg Hospital, Germany.
Martin SchuhmannDepartment of Neurosurgery, University Hospital Tübingen, Tübingen, Germany.
Martin EbingerDepartment of Hematology and Oncology, Children's University Hospital Tübingen, Tübingen, Germany.
Linda M LiauDepartment of Neurosurgery, David Geffen School of Medicine at UCLA, Los Angeles, California, USA.
Jaume MoraDevelopmental Tumor Biology Laboratory, Hospital Sant Joan de Déu, Barcelona, Spain.
Roger E McLendonDepartment of Pathology, Duke University, Durham, North County, USA.
Nada JabadoDepartment of Pediatrics, McGill University, Montreal, Quebec, Canada.
Toshihiro KumabeDepartment of Neurosurgery, Kitasato University School of Medicine, Sagamihara, Japan.
Eric ChuahMichael Smith Genome Sciences Centre, BC Cancer Agency, Vancouver, British Columbia, Canada.
Yussanne MaMichael Smith Genome Sciences Centre, BC Cancer Agency, Vancouver, British Columbia, Canada.
Richard A MooreMichael Smith Genome Sciences Centre, BC Cancer Agency, Vancouver, British Columbia, Canada.
Andrew J MungallMichael Smith Genome Sciences Centre, BC Cancer Agency, Vancouver, British Columbia, Canada.
Karen L MungallMichael Smith Genome Sciences Centre, BC Cancer Agency, Vancouver, British Columbia, Canada.
Nina ThiessenMichael Smith Genome Sciences Centre, BC Cancer Agency, Vancouver, British Columbia, Canada.
Kane TseMichael Smith Genome Sciences Centre, BC Cancer Agency, Vancouver, British Columbia, Canada.
Tina WongMichael Smith Genome Sciences Centre, BC Cancer Agency, Vancouver, British Columbia, Canada.
Steven J M JonesMichael Smith Genome Sciences Centre, BC Cancer Agency, Vancouver, British Columbia, Canada.
Olaf WittDepartment of Pediatric Hematology and Oncology, Heidelberg University Hospital, Heidelberg, Germany.
Till MildeDepartment of Pediatric Hematology and Oncology, Heidelberg University Hospital, Heidelberg, Germany.
Andreas Von DeimlingDepartment of Neuropathology, Heidelberg University Hospital, Heidelberg, Germany.
David CapperDepartment of Neuropathology, Heidelberg University Hospital, Heidelberg, Germany.
Andrey KorshunovDepartment of Neuropathology, Heidelberg University Hospital, Heidelberg, Germany.
Marie-Laure YaspoMax Planck Institute for Molecular Genetics, Department of Vertebrate Genomics, Berlin, Germany.
Richard KriwackiDepartment of Structural Biology, St Jude Children's Research Hospital, Memphis, Tennessee, USA.
Amar GajjarDepartment of Oncology, St Jude Children's Research Hospital, Memphis, Tennessee, USA.
Jinghui ZhangDepartment of Computational Biology, St Jude Children's Research Hospital, Memphis, Tennessee, USA.
Rameen BeroukhimBroad Institute of Harvard and MIT, Cambridge, Massachusetts, USA.
Ernest FraenkelDepartment of Biological Engineering, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA.
Jan O KorbelGenome Biology Unit, European Molecular Biology Laboratory (EMBL), Heidelberg, Germany.
Benedikt BrorsDivision of Theoretical Bioinformatics, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Matthias SchlesnerDivision of Theoretical Bioinformatics, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Roland EilsDivision of Theoretical Bioinformatics, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Marco A MarraMichael Smith Genome Sciences Centre, BC Cancer Agency, Vancouver, British Columbia, Canada.
Stefan M PfisterDivision of Pediatric Neurooncology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Michael D TaylorDevelopmental &Stem Cell Biology Program, The Hospital for Sick Children, Toronto, Ontario.
Peter LichterDivision of Molecular Genetics, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Heidelberg University · DEGerman Cancer Research Center · DESt. Jude Children's Research Hospital · USEuropean Molecular Biology Laboratory · DEBC Cancer Agency · CACanada's Michael Smith Genome Sciences Centre · CAMax Planck Institute for Molecular Genetics · DEUniversity Hospital Heidelberg · DEBiologie du Développement et Cellules SouchesHospital for Sick Children · CABroad Institute · USMassachusetts Institute of Technology · USUniversity Children's Hospital Tübingen · DEUniversity of Copenhagen · DKBoston Children's Hospital · USBurdenko Neurosurgery Institute · RUCopenhagen University Hospital · DKDeutschen Konsortium für Translationale Krebsforschung · DEDuke University · USHospital Sant Joan de Déu Barcelona · ES

Funding

Mouse models to discover new drivers of medulloblastomaR01CA159859 · NCI · SANFORD BURNHAM PREBYS MEDICAL DISCOVERY INSTITUTE · PI Michael D. Taylor, WILLIAM A WEISS · 2011 to 2026
$10.4M
GENOMIC ANALYSIS OF MEDULLOBLASTOMASR01CA109467 · NCI · CHILDREN'S HOSPITAL BOSTON · PI MESIROV, JILL P., POMEROY, SCOTT LOREN · 2004 to 2015
$7.3M
Medulloblastoma and MetastasesR01CA148699 · NCI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI TAYLOR, MICHAEL D., WEISS, WILLIAM A · 2010 to 2014
$2.4M
NCI NIH HHS R01 CA109467NCI NIH HHS R01 CA148699NCI NIH HHS R01 CA159859
6 · The paper itself

Abstract

Current therapies for medulloblastoma, a highly malignant childhood brain tumour, impose debilitating effects on the developing child, and highlight the need for molecularly targeted treatments with reduced toxicity. Previous studies have been unable to identify the full spectrum of driver genes and molecular processes that operate in medulloblastoma subgroups. Here we analyse the somatic landscape across 491 sequenced medulloblastoma samples and the molecular heterogeneity among 1,256 epigenetically analysed cases, and identify subgroup-specific driver alterations that include previously undiscovered actionable targets. Driver mutations were confidently assigned to most patients belonging to Group 3 and Group 4 medulloblastoma subgroups, greatly enhancing previous knowledge. New molecular subtypes were differentially enriched for specific driver events, including hotspot in-frame insertions that target KBTBD4 and 'enhancer hijacking' events that activate PRDM6. Thus, the application of integrative genomics to an extensive cohort of clinical samples derived from a single childhood cancer entity revealed a series of cancer genes and biologically relevant subtype diversity that represent attractive therapeutic targets for the treatment of patients with medulloblastoma.

Indexed as

DNA Mutational AnalysisWhole Genome SequencingCarcinogenesisCarrier ProteinsCohort StudiesDatasets as TopicDNA MethylationEpistasis, GeneticGenome, HumanGenomicsHumansMedulloblastomaMolecular Targeted TherapyMuscle ProteinsMutationOncogenesCarrier ProteinsKBTBD4 protein, humanMuscle ProteinsPRDM6 protein, humanTranscription FactorsWnt Proteins

Identifiers

PMID28726821
PMCPMC5905700
OpenAlexW2737542366

What OpenQuestion holds

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LicenceCC BY
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.