Evidence map›Paper›PMID 29026114›Full record

ArticleNature communications2017

The driver landscape of sporadic chordoma.

Patrick S Tarpey, Sam Behjati, Matthew D Young, Inigo Martincorena, Ludmil B Alexandrov, Sarah J Farndon, Charlotte Guzzo, Claire Hardy, Calli Latimer, Adam P Butler and 22 more

Open access · goldAbstract read
In one paragraph

Article in Nature communications, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 93 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
93citing papers in PubMed, 1 pooled it
9.1field-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

93 citing papers in PubMed, 1 synthesis or guideline pooled it, 178 citations in OpenAlex.

  1. Pooled it
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  11. Hemangioblastoma of the Kidney-A Comprehensive Clinical, Pathological, and Genetic Analysis of Four Cases.APMIS : acta pathologica, microbiologica, et immunologica Scandinavica · 2026
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33 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

32 authors at 13 institutions in 4 countries.

Patrick S TarpeyCancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, CB10 1SA, UK.
Sam BehjatiCancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, CB10 1SA, UK.
Matthew D YoungCancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, CB10 1SA, UK.
Inigo MartincorenaCancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, CB10 1SA, UK.
Ludmil B AlexandrovLos Alamos National Laboratory, Los Alamos, NM, 87545, USA.ORCID http://orcid.org/0000-0003-3596-4515
Sarah J FarndonCancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, CB10 1SA, UK.
Charlotte GuzzoCancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, CB10 1SA, UK.
Claire HardyCancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, CB10 1SA, UK.
Calli LatimerCancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, CB10 1SA, UK.
Adam P ButlerCancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, CB10 1SA, UK.
Jon W TeagueCancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, CB10 1SA, UK.
Adam ShlienDepartment of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada, M5G 1X8.
P Andrew FutrealDepartment of Genomic Medicine, MD Anderson Cancer Center, University of Texas, Houston, TX, 77030, USA.
Sohrab ShahUniversity of British Columbia, Vancouver, BC, Canada, V6T 1Z4.ORCID http://orcid.org/0000-0001-6402-523X
Ali BashashatiUniversity of British Columbia, Vancouver, BC, Canada, V6T 1Z4.
Farzad JamshidiUniversity of British Columbia, Vancouver, BC, Canada, V6T 1Z4.
Torsten O NielsenUniversity of British Columbia, Vancouver, BC, Canada, V6T 1Z4.
David HuntsmanUniversity of British Columbia, Vancouver, BC, Canada, V6T 1Z4.
Daniel BaumhoerBone Tumour Reference Centre, Institute of Pathology, University Hospital Basel, University of Basel, 4031, Basel, Switzerland.
Sebastian BrandnerDivision of Neuropathology and Department of Neurodegenerative Disease, The National Hospital for Neurology and Neurosurgery, University College Hospital NHS Foundation Trust and UCL Institute of Neurology, London, WC1N 3BG, UK.ORCID http://orcid.org/0000-0002-9821-0342
Jay WunderDepartment of Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, ON, Canada, M5G 1X5.
Brendan DicksonDepartment of Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, ON, Canada, M5G 1X5.
Patricia CogswellChordoma Foundation, PO Box 2127, Durham, NC, 27702, USA.
Josh SommerChordoma Foundation, PO Box 2127, Durham, NC, 27702, USA.
Joanna J PhillipsDepartment of Neurosurgery, University of California, San Francisco, CA, 94143, USA.
M Fernanda AmaryDepartment of Histopathology, Royal National Orthopaedic Hospital NHS Trust, Middlesex, Stanmore, HA7 4LP, UK.
Roberto TiraboscoDepartment of Histopathology, Royal National Orthopaedic Hospital NHS Trust, Middlesex, Stanmore, HA7 4LP, UK.
Nischalan PillayDepartment of Histopathology, Royal National Orthopaedic Hospital NHS Trust, Middlesex, Stanmore, HA7 4LP, UK.
Stephen YipUniversity of British Columbia, Vancouver, BC, Canada, V6T 1Z4.
Michael R StrattonCancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, CB10 1SA, UK.
Adrienne M FlanaganDepartment of Histopathology, Royal National Orthopaedic Hospital NHS Trust, Middlesex, Stanmore, HA7 4LP, UK.
Peter J CampbellCancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, CB10 1SA, UK. pc8@sanger.ac.uk.
Wellcome Sanger Institute · GBUniversity of British Columbia · CARoyal National Orthopaedic Hospital · GBChordoma Foundation · USMount Sinai Hospital · CAUniversity of Cambridge · GBGreat Ormond Street Hospital · GBHospital for Sick Children · CALos Alamos National Laboratory · USThe University of Texas MD Anderson Cancer Center · USUniversity College Hospital · GBUniversity of Basel · CHUniversity of California, San Francisco · US

Funding

Cancer Research UK 18387Cancer Research UK 21777Medical Research Council G0701018Medical Research Council G1100578Medical Research Council MR/N004272/1Wellcome Trust
6 · The paper itself

Abstract

Chordoma is a malignant, often incurable bone tumour showing notochordal differentiation. Here, we defined the somatic driver landscape of 104 cases of sporadic chordoma. We reveal somatic duplications of the notochordal transcription factor brachyury (T) in up to 27% of cases. These variants recapitulate the rearrangement architecture of the pathogenic germline duplications of T that underlie familial chordoma. In addition, we find potentially clinically actionable PI3K signalling mutations in 16% of cases. Intriguingly, one of the most frequently altered genes, mutated exclusively by inactivating mutation, was LYST (10%), which may represent a novel cancer gene in chordoma.Chordoma is a rare often incurable malignant bone tumour. Here, the authors investigate driver mutations of sporadic chordoma in 104 cases, revealing duplications in notochordal transcription factor brachyury (T), PI3K signalling mutations, and mutations in LYST, a potential novel cancer gene in chordoma.

Indexed as

MutationBone NeoplasmsBrachyury ProteinCase-Control StudiesCell Line, TumorChordomaClass Ia Phosphatidylinositol 3-KinaseClass I Phosphatidylinositol 3-KinasesFetal ProteinsGene DuplicationHumansPhosphatidylinositol 3-KinasesPolymorphism, Single NucleotideT-Box Domain ProteinsVesicular Transport ProteinsBrachyury ProteinClass Ia Phosphatidylinositol 3-KinaseClass I Phosphatidylinositol 3-KinasesFetal ProteinsLYST protein, humanPhosphatidylinositol 3-KinasesPIK3CA protein, humanPIK3R1 protein, humanT-Box Domain ProteinsVesicular Transport Proteins

Identifiers

PMID29026114
PMCPMC5638846
OpenAlexW2760852017

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.