Evidence map›Paper›PMID 22722829›Full record

ArticleNature2012

Novel mutations target distinct subgroups of medulloblastoma.

Giles Robinson, Matthew Parker, Tanya A Kranenburg, Charles Lu, Xiang Chen, Li Ding, Timothy N Phoenix, Erin Hedlund, Lei Wei, Xiaoyan Zhu and 40 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 538 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
538citing papers in PubMed, 2 pooled it
37.6field-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

538 citing papers in PubMed, 2 syntheses or guidelines pooled it, 851 citations in OpenAlex.

  1. Pooled it
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  14. Developmental determinants of male bias in medulloblastoma.bioRxiv : the preprint server for biology · 2026
    Article
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  16. Article
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478 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

50 authors at 4 institutions in 3 countries.

Giles RobinsonSt Jude Children's Research Hospital, Washington University Pediatric Cancer Genome Project, Memphis, Tennessee 38105, USA.
Matthew Parker
Tanya A Kranenburg
Charles Lu
Xiang Chen
Li Ding
Timothy N Phoenix
Erin Hedlund
Lei Wei
Xiaoyan Zhu
Nader Chalhoub
Suzanne J Baker
Robert Huether
Richard Kriwacki
Natasha Curley
Radhika Thiruvenkatam
Jianmin Wang
Gang Wu
Michael Rusch
Xin Hong
Jared Becksfort
Pankaj Gupta
Jing Ma
John Easton
Bhavin Vadodaria
Arzu Onar-Thomas
Tong Lin
Shaoyi Li
Stanley Pounds
Steven Paugh
David Zhao
Daisuke Kawauchi
Martine F Roussel
David Finkelstein
David W Ellison
Ching C Lau
Eric Bouffet
Tim Hassall
Sridharan Gururangan
Richard Cohn
Robert S Fulton
Lucinda L Fulton
David J Dooling
Kerri Ochoa
Amar Gajjar
Elaine R Mardis
Richard K Wilson
James R Downing
Jinghui Zhang
Richard J Gilbertson
St. Jude Children's Research Hospital · USWashington University in St. Louis · USChildren's Cancer Center · USDuke Medical Center · US

Funding

Viral Vector Technology (VVTSR)P30CA021765 · NCI · ST. JUDE CHILDREN'S RESEARCH HOSPITAL · PI CHARLES ROBERTS · 1985 to 2026
$166.9M
The DNA Damage Response and Tumorigenesis in the BrainP01CA096832 · NCI · ST. JUDE CHILDREN'S RESEARCH HOSPITAL · PI BAKER, SUZANNE J. · 2003 to 2025
$38.0M
An Investigation of Radial Glia as the Source of Ependymoma Stem CellsR01CA129541 · NCI · UNIVERSITY OF CAMBRIDGE · PI GILBERTSON, RICHARD · 2007 to 2016
$3.0M
NCI NIH HHS P01 CA096832NCI NIH HHS P01CA96832NCI NIH HHS P30 CA021765NCI NIH HHS P30CA021765NCI NIH HHS R01 CA129541NCI NIH HHS R01CA129541
6 · The paper itself

Abstract

Medulloblastoma is a malignant childhood brain tumour comprising four discrete subgroups. Here, to identify mutations that drive medulloblastoma, we sequenced the entire genomes of 37 tumours and matched normal blood. One-hundred and thirty-six genes harbouring somatic mutations in this discovery set were sequenced in an additional 56 medulloblastomas. Recurrent mutations were detected in 41 genes not yet implicated in medulloblastoma; several target distinct components of the epigenetic machinery in different disease subgroups, such as regulators of H3K27 and H3K4 trimethylation in subgroups 3 and 4 (for example, KDM6A and ZMYM3), and CTNNB1-associated chromatin re-modellers in WNT-subgroup tumours (for example, SMARCA4 and CREBBP). Modelling of mutations in mouse lower rhombic lip progenitors that generate WNT-subgroup tumours identified genes that maintain this cell lineage (DDX3X), as well as mutated genes that initiate (CDH1) or cooperate (PIK3CA) in tumorigenesis. These data provide important new insights into the pathogenesis of medulloblastoma subgroups and highlight targets for therapeutic development.

Indexed as

AnimalsAntigens, CDbeta CateninCadherinsCdh1 ProteinsCell Cycle ProteinsCell LineageCerebellar NeoplasmsChildClass I Phosphatidylinositol 3-KinasesCREB-Binding ProteinDEAD-box RNA HelicasesDisease Models, AnimalDNA Copy Number VariationsDNA HelicasesDNA Mutational AnalysisAntigens, CDbeta CateninCadherinsCDH1 protein, humanCdh1 ProteinsCell Cycle ProteinsClass I Phosphatidylinositol 3-KinasesCREB-Binding ProteinCREBBP protein, humanCTNNB1 protein, humanDDX3X protein, humanDEAD-box RNA HelicasesDNA HelicasesFzr1 protein, mouseHedgehog ProteinsHistone DemethylasesHistonesKDM6A protein, humanNuclear ProteinsPhosphatidylinositol 3-KinasesPIK3CA protein, humanSHH protein, humanSMARCA4 protein, humanTranscription FactorsWnt ProteinsZMYM3 protein, human

Identifiers

PMID22722829
PMCPMC3412905
OpenAlexW1974625077

What OpenQuestion holds

Textmetadata
LicenceTDM
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.