Evidence map›Paper›PMID 22832581›Full record

ArticleNature2012

Subgroup-specific structural variation across 1,000 medulloblastoma genomes.

Paul A Northcott, David J H Shih, John Peacock, Livia Garzia, A Sorana Morrissy, Thomas Zichner, Adrian M Stütz, Andrey Korshunov, Jüri Reimand, Steven E Schumacher and 125 more

Open access · hybridAbstract read
In one paragraph

Article in Nature, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 568 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
568citing papers in PubMed, 2 pooled it
32.2field-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

568 citing papers in PubMed, 2 syntheses or guidelines pooled it, 915 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Trial
  4. Review
  5. Review
  6. Article
  7. Article
  8. 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
  9. Article
  10. Article
  11. Article
  12. Article
  13. Article
  14. Article
  15. Article
  16. bioRxiv : the preprint server for biology · 2026
    Article
  17. Article
  18. Review
  19. Developmental determinants of male bias in medulloblastoma.bioRxiv : the preprint server for biology · 2026
    Article
  20. Review

508 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

135 authors at 20 institutions in 16 countries.

Paul A NorthcottDevelopmental & Stem Cell Biology Program, The Hospital for Sick Children, Toronto, Ontario M5G 1L7, Canada.
David J H Shih
John Peacock
Livia Garzia
A Sorana Morrissy
Thomas Zichner
Adrian M Stütz
Andrey Korshunov
Jüri Reimand
Steven E Schumacher
Rameen Beroukhim
David W Ellison
Christian R Marshall
Anath C Lionel
Stephen Mack
Adrian Dubuc
Yuan Yao
Vijay Ramaswamy
Betty Luu
Adi Rolider
Florence M G Cavalli
Xin Wang
Marc Remke
Xiaochong Wu
Readman Y B Chiu
Andy Chu
Eric Chuah
Richard D Corbett
Gemma R Hoad
Shaun D Jackman
Yisu Li
Allan Lo
Karen L Mungall
Ka Ming Nip
Jenny Q Qian
Anthony G J Raymond
Nina T Thiessen
Richard J Varhol
Inanc Birol
Richard A Moore
Andrew J Mungall
Robert Holt
Daisuke Kawauchi
Martine F Roussel
Marcel Kool
David T W Jones
Hendrick Witt
Africa Fernandez-L
Anna M Kenney
Robert J Wechsler-Reya
Peter Dirks
Tzvi Aviv
Wieslawa A Grajkowska
Marta Perek-Polnik
Christine C Haberler
Olivier Delattre
Stéphanie S Reynaud
François F Doz
Sarah S Pernet-Fattet
Byung-Kyu Cho
Seung-Ki Kim
Kyu-Chang Wang
Wolfram Scheurlen
Charles G Eberhart
Michelle Fèvre-Montange
Anne Jouvet
Ian F Pollack
Xing Fan
Karin M Muraszko
G Yancey Gillespie
Concezio Di Rocco
Luca Massimi
Erna M C Michiels
Nanne K Kloosterhof
Pim J French
Johan M Kros
James M Olson
Richard G Ellenbogen
Karel Zitterbart
Leos Kren
Reid C Thompson
Michael K Cooper
Boleslaw Lach
Roger E McLendon
Darell D Bigner
Adam Fontebasso
Steffen Albrecht
Nada Jabado
Janet C Lindsey
Simon Bailey
Nalin Gupta
William A Weiss
László Bognár
Almos Klekner
Timothy E Van Meter
Toshihiro Kumabe
Teiji Tominaga
Samer K Elbabaa
Jeffrey R Leonard
Joshua B Rubin
Linda M Liau
Erwin G Van Meir
Maryam Fouladi
Hideo Nakamura
Giuseppe Cinalli
Miklós Garami
Peter Hauser
Ali G Saad
Achille Iolascon
Shin Jung
Carlos G Carlotti
Rajeev Vibhakar
Young Shin Ra
Shenandoah Robinson
Massimo Zollo
Claudia C Faria
Jennifer A Chan
Michael L Levy
Poul H B Sorensen
Matthew Meyerson
Scott L Pomeroy
Yoon-Jae Cho
Gary D Bader
Uri Tabori
Cynthia E Hawkins
Eric Bouffet
Stephen W Scherer
James T Rutka
David Malkin
Steven C Clifford
Steven J M Jones
Jan O Korbel
Stefan M Pfister
Marco A Marra
Michael D Taylor
Hospital for Sick Children · CABC Cancer Agency · CACanada's Michael Smith Genome Sciences Centre · CAUniversity of Toronto · CACanada Research Chairs · CAEuropean Molecular Biology Laboratory · DEGerman Cancer Research Center · DEMcGill University · CANewcastle University · GBSeoul National University Children's Hospital · KRSt. Jude Children's Research Hospital · USVanderbilt University Medical Center · USChildren's Memorial Health Institute · PLDana-Farber Cancer Institute · USDuke University · USErasmus University Rotterdam · NLHeidelberg University · DEInstitut Curie · FRSemmelweis University · HUSickKids Foundation · CA

Funding

Winship Cancer Institute Cancer Center Support GrantP30CA138292 · NCI · EMORY UNIVERSITY · PI Suresh S Ramalingam · 2009 to 2026
$47.5M
SYNAPTIC MECHANISMS IN HIPPOCAMPAL EPILEPTOGENESISP30HD018655 · NICHD · CHILDREN'S HOSPITAL BOSTON · PI POMEROY, SCOTT LOREN · 1985 to 2015
$26.2M
TR&D 3 - Network Guided Machine LearningP41GM103504 · NIGMS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI IDEKER, TREY · 2012 to 2024
$17.3M
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
Knowledge-based Gene Expression Analysis for Biomedical and Cancer ResearchR01CA121941 · NCI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI MESIROV, JILL P. · 2006 to 2016
$5.1M
Testing a cancer patient-specific SARS-CoV-2 vaccine in chemotherapy- and radiation-treated pediatric brain tumor mouse modelsR01CA114567 · NCI · SEATTLE CHILDREN'S HOSPITAL · PI OLSON, JAMES M · 2006 to 2023
$4.9M
THERAPEUTIC MODULATION OF ANGIOGENESIS IN HUMAN GLIOMASR01CA086335 · NCI · EMORY UNIVERSITY · PI VAN MEIR, ERWIN G. · 2000 to 2011
$3.9M
Sonic hedgehog:Insulin-Like Growth Factor Interactions in Proliferating Neural PrR01NS061070 · NINDS · VANDERBILT UNIVERSITY · PI KENNEY, ANNA MARIE · 2007 to 2016
$3.5M
Targeting Glioblastoma Using Novel Small Molecule HIF-1 Pathway InhibitorsR01CA116804 · NCI · EMORY UNIVERSITY · PI VAN MEIR, ERWIN G. · 2007 to 2011
$2.5M
CONTEMPORARY THERAPEUTICS FOR ANAPLASTIC GLIOMASP20CA151129 · NCI · UNIVERSITY OF ALABAMA AT BIRMINGHAM · PI GILLESPIE, G. YANCEY · 2011 to 2013
$2.3M
Infant and Toddler Brain TumorsR01CA155360 · NCI · FRED HUTCHINSON CANCER RESEARCH CENTER · PI OLSON, JAMES M · 2011 to 2015
$1.8M
Cancer Research UK 13457CIHR AT1-112286NCI NIH HHS CA116804NCI NIH HHS CA138292NCI NIH HHS CA159859NCI NIH HHS CA86335NCI NIH HHS P20 CA151129NCI NIH HHS P30 CA138292NCI NIH HHS R01 CA086335NCI NIH HHS R01 CA109467NCI NIH HHS R01 CA114567NCI NIH HHS R01 CA116804NCI NIH HHS R01 CA121941NCI NIH HHS R01 CA148621NCI NIH HHS R01 CA155360NCI NIH HHS R01 CA159859NCI NIH HHS R01 CA163737NICHD NIH HHS P30 HD018655NIGMS NIH HHS P41 GM103504NINDS NIH HHS K08 NS059790NINDS NIH HHS R01 NS061070
6 · The paper itself

Abstract

Medulloblastoma, the most common malignant paediatric brain tumour, is currently treated with nonspecific cytotoxic therapies including surgery, whole-brain radiation, and aggressive chemotherapy. As medulloblastoma exhibits marked intertumoural heterogeneity, with at least four distinct molecular variants, previous attempts to identify targets for therapy have been underpowered because of small samples sizes. Here we report somatic copy number aberrations (SCNAs) in 1,087 unique medulloblastomas. SCNAs are common in medulloblastoma, and are predominantly subgroup-enriched. The most common region of focal copy number gain is a tandem duplication of SNCAIP, a gene associated with Parkinson's disease, which is exquisitely restricted to Group 4α. Recurrent translocations of PVT1, including PVT1-MYC and PVT1-NDRG1, that arise through chromothripsis are restricted to Group 3. Numerous targetable SCNAs, including recurrent events targeting TGF-β signalling in Group 3, and NF-κB signalling in Group 4, suggest future avenues for rational, targeted therapy.

Indexed as

Carrier ProteinsCerebellar NeoplasmsChildDNA Copy Number VariationsGene DuplicationGenes, mycGenome, HumanGenomicsGenomic Structural VariationHedgehog ProteinsHumansMedulloblastomaNerve Tissue ProteinsNF-kappa BOncogene Proteins, FusionProteinsCarrier ProteinsHedgehog ProteinsNerve Tissue ProteinsNF-kappa BOncogene Proteins, FusionProteinsPVT1 long-non-coding RNA, humanRNA, Long NoncodingSHH protein, humanSNCAIP protein, humanTransforming Growth Factor beta

Identifiers

PMID22832581
PMCPMC3683624
OpenAlexW2082080058

What OpenQuestion holds

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Read underepoch 390

Registered trials

None linked

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.