Frequent mutation of the major cartilage collagen gene COL2A1 in chondrosarcoma View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2013-08

AUTHORS

Patrick S Tarpey, Sam Behjati, Susanna L Cooke, Peter Van Loo, David C Wedge, Nischalan Pillay, John Marshall, Sarah O'Meara, Helen Davies, Serena Nik-Zainal, David Beare, Adam Butler, John Gamble, Claire Hardy, Jonathon Hinton, Ming Ming Jia, Alagu Jayakumar, David Jones, Calli Latimer, Mark Maddison, Sancha Martin, Stuart McLaren, Andrew Menzies, Laura Mudie, Keiran Raine, Jon W Teague, Jose M C Tubio, Dina Halai, Roberto Tirabosco, Fernanda Amary, Peter J Campbell, Michael R Stratton, Adrienne M Flanagan, P Andrew Futreal

ABSTRACT

Chondrosarcoma is a heterogeneous collection of malignant bone tumors and is the second most common primary malignancy of bone after osteosarcoma. Recent work has identified frequent, recurrent mutations in IDH1 or IDH2 in nearly half of central chondrosarcomas. However, there has been little systematic genomic analysis of this tumor type, and, thus, the contribution of other genes is unclear. Here we report comprehensive genomic analyses of 49 individuals with chondrosarcoma (cases). We identified hypermutability of the major cartilage collagen gene COL2A1, with insertions, deletions and rearrangements identified in 37% of cases. The patterns of mutation were consistent with selection for variants likely to impair normal collagen biosynthesis. In addition, we identified mutations in IDH1 or IDH2 (59%), TP53 (20%), the RB1 pathway (33%) and Hedgehog signaling (18%). More... »

PAGES

923-926

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ng.2668

DOI

http://dx.doi.org/10.1038/ng.2668

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1048862000

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/23770606


Indexing Status Check whether this publication has been indexed by Scopus and Web Of Science using the SN Indexing Status Tool
Incoming Citations Browse incoming citations for this publication using opencitations.net

JSON-LD is the canonical representation for SciGraph data.

TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT

[
  {
    "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
    "about": [
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/0604", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Genetics", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/06", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Biological Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Bone Neoplasms", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Chondrosarcoma", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Collagen Type II", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Computational Biology", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "DNA Copy Number Variations", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Databases, Genetic", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Hedgehog Proteins", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Mutation", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Neoplasm Grading", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Polymorphism, Single Nucleotide", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Retinoblastoma Protein", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Signal Transduction", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "Wellcome Sanger Institute", 
          "id": "https://www.grid.ac/institutes/grid.10306.34", 
          "name": [
            "Cancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Tarpey", 
        "givenName": "Patrick S", 
        "id": "sg:person.01033754767.08", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01033754767.08"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Cambridge", 
          "id": "https://www.grid.ac/institutes/grid.5335.0", 
          "name": [
            "Cancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK.", 
            "Department of Paediatrics, University of Cambridge, Cambridge, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Behjati", 
        "givenName": "Sam", 
        "id": "sg:person.0672414220.51", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0672414220.51"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Wellcome Sanger Institute", 
          "id": "https://www.grid.ac/institutes/grid.10306.34", 
          "name": [
            "Cancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Cooke", 
        "givenName": "Susanna L", 
        "id": "sg:person.0612277137.01", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0612277137.01"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "KU Leuven", 
          "id": "https://www.grid.ac/institutes/grid.5596.f", 
          "name": [
            "Cancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK.", 
            "Human Genome Laboratory, Department of Human Genetics, VIB and KU Leuven, Leuven, Belgium."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Van Loo", 
        "givenName": "Peter", 
        "id": "sg:person.01017630143.46", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01017630143.46"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Wellcome Sanger Institute", 
          "id": "https://www.grid.ac/institutes/grid.10306.34", 
          "name": [
            "Cancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Wedge", 
        "givenName": "David C", 
        "id": "sg:person.01252077430.47", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01252077430.47"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University College London", 
          "id": "https://www.grid.ac/institutes/grid.83440.3b", 
          "name": [
            "Histopathology, Royal National Orthopaedic Hospital National Health Service (NHS) Trust, Stanmore, UK.", 
            "University College London (UCL) Cancer Institute, London, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Pillay", 
        "givenName": "Nischalan", 
        "id": "sg:person.0704160753.41", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0704160753.41"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Wellcome Sanger Institute", 
          "id": "https://www.grid.ac/institutes/grid.10306.34", 
          "name": [
            "Cancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Marshall", 
        "givenName": "John", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Wellcome Sanger Institute", 
          "id": "https://www.grid.ac/institutes/grid.10306.34", 
          "name": [
            "Cancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "O'Meara", 
        "givenName": "Sarah", 
        "id": "sg:person.01215214760.29", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01215214760.29"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Wellcome Sanger Institute", 
          "id": "https://www.grid.ac/institutes/grid.10306.34", 
          "name": [
            "Cancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Davies", 
        "givenName": "Helen", 
        "id": "sg:person.0600503324.34", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0600503324.34"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Wellcome Sanger Institute", 
          "id": "https://www.grid.ac/institutes/grid.10306.34", 
          "name": [
            "Cancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Nik-Zainal", 
        "givenName": "Serena", 
        "id": "sg:person.01230277005.30", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01230277005.30"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Wellcome Sanger Institute", 
          "id": "https://www.grid.ac/institutes/grid.10306.34", 
          "name": [
            "Cancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Beare", 
        "givenName": "David", 
        "id": "sg:person.01322170022.71", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01322170022.71"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Wellcome Sanger Institute", 
          "id": "https://www.grid.ac/institutes/grid.10306.34", 
          "name": [
            "Cancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Butler", 
        "givenName": "Adam", 
        "id": "sg:person.01107214731.24", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01107214731.24"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Wellcome Sanger Institute", 
          "id": "https://www.grid.ac/institutes/grid.10306.34", 
          "name": [
            "Cancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Gamble", 
        "givenName": "John", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Wellcome Sanger Institute", 
          "id": "https://www.grid.ac/institutes/grid.10306.34", 
          "name": [
            "Cancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Hardy", 
        "givenName": "Claire", 
        "id": "sg:person.01077273524.66", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01077273524.66"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Wellcome Sanger Institute", 
          "id": "https://www.grid.ac/institutes/grid.10306.34", 
          "name": [
            "Cancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Hinton", 
        "givenName": "Jonathon", 
        "id": "sg:person.01145406724.89", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01145406724.89"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Wellcome Sanger Institute", 
          "id": "https://www.grid.ac/institutes/grid.10306.34", 
          "name": [
            "Cancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Jia", 
        "givenName": "Ming Ming", 
        "id": "sg:person.0776213413.27", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0776213413.27"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Wellcome Sanger Institute", 
          "id": "https://www.grid.ac/institutes/grid.10306.34", 
          "name": [
            "Cancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Jayakumar", 
        "givenName": "Alagu", 
        "id": "sg:person.01133707727.19", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01133707727.19"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Wellcome Sanger Institute", 
          "id": "https://www.grid.ac/institutes/grid.10306.34", 
          "name": [
            "Cancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Jones", 
        "givenName": "David", 
        "id": "sg:person.01363003204.20", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01363003204.20"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Wellcome Sanger Institute", 
          "id": "https://www.grid.ac/institutes/grid.10306.34", 
          "name": [
            "Cancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Latimer", 
        "givenName": "Calli", 
        "id": "sg:person.01166432644.99", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01166432644.99"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Wellcome Sanger Institute", 
          "id": "https://www.grid.ac/institutes/grid.10306.34", 
          "name": [
            "Cancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Maddison", 
        "givenName": "Mark", 
        "id": "sg:person.0631231444.24", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0631231444.24"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Wellcome Sanger Institute", 
          "id": "https://www.grid.ac/institutes/grid.10306.34", 
          "name": [
            "Cancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Martin", 
        "givenName": "Sancha", 
        "id": "sg:person.01156276574.13", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01156276574.13"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Wellcome Sanger Institute", 
          "id": "https://www.grid.ac/institutes/grid.10306.34", 
          "name": [
            "Cancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "McLaren", 
        "givenName": "Stuart", 
        "id": "sg:person.01364364727.31", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01364364727.31"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Wellcome Sanger Institute", 
          "id": "https://www.grid.ac/institutes/grid.10306.34", 
          "name": [
            "Cancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Menzies", 
        "givenName": "Andrew", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Wellcome Sanger Institute", 
          "id": "https://www.grid.ac/institutes/grid.10306.34", 
          "name": [
            "Cancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Mudie", 
        "givenName": "Laura", 
        "id": "sg:person.01265731437.34", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01265731437.34"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Wellcome Sanger Institute", 
          "id": "https://www.grid.ac/institutes/grid.10306.34", 
          "name": [
            "Cancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Raine", 
        "givenName": "Keiran", 
        "id": "sg:person.01251165601.38", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01251165601.38"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Wellcome Sanger Institute", 
          "id": "https://www.grid.ac/institutes/grid.10306.34", 
          "name": [
            "Cancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Teague", 
        "givenName": "Jon W", 
        "id": "sg:person.01177240404.72", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01177240404.72"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Wellcome Sanger Institute", 
          "id": "https://www.grid.ac/institutes/grid.10306.34", 
          "name": [
            "Cancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Tubio", 
        "givenName": "Jose M C", 
        "id": "sg:person.01265476424.58", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01265476424.58"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Histopathology, Royal National Orthopaedic Hospital National Health Service (NHS) Trust, Stanmore, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Halai", 
        "givenName": "Dina", 
        "id": "sg:person.01271567664.43", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01271567664.43"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Histopathology, Royal National Orthopaedic Hospital National Health Service (NHS) Trust, Stanmore, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Tirabosco", 
        "givenName": "Roberto", 
        "id": "sg:person.0734601022.00", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0734601022.00"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Histopathology, Royal National Orthopaedic Hospital National Health Service (NHS) Trust, Stanmore, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Amary", 
        "givenName": "Fernanda", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Cambridge", 
          "id": "https://www.grid.ac/institutes/grid.5335.0", 
          "name": [
            "Cancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK.", 
            "Department of Haematology, Addenbrooke's Hospital, Cambridge, UK.", 
            "Department of Haematology, University of Cambridge, Cambridge, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Campbell", 
        "givenName": "Peter J", 
        "id": "sg:person.0716350025.21", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0716350025.21"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Wellcome Sanger Institute", 
          "id": "https://www.grid.ac/institutes/grid.10306.34", 
          "name": [
            "Cancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Stratton", 
        "givenName": "Michael R", 
        "id": "sg:person.010101505177.49", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010101505177.49"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University College London", 
          "id": "https://www.grid.ac/institutes/grid.83440.3b", 
          "name": [
            "Histopathology, Royal National Orthopaedic Hospital National Health Service (NHS) Trust, Stanmore, UK.", 
            "University College London (UCL) Cancer Institute, London, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Flanagan", 
        "givenName": "Adrienne M", 
        "id": "sg:person.0616627263.11", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0616627263.11"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Wellcome Sanger Institute", 
          "id": "https://www.grid.ac/institutes/grid.10306.34", 
          "name": [
            "Cancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Futreal", 
        "givenName": "P Andrew", 
        "id": "sg:person.0653224107.08", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0653224107.08"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "https://doi.org/10.1152/ajpcell.00579.2002", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1003503677"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1073/pnas.1009843107", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1007646723"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nature09639", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1009539954", 
          "https://doi.org/10.1038/nature09639"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1021/ml300225h", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1010469782"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/bioinformatics/btp698", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1012031985"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1056/nejmoa1113538", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1013931603"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/jcp.22530", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1014600452"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nrg3152", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1015150428", 
          "https://doi.org/10.1038/nrg3152"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng0996-25", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1016496469", 
          "https://doi.org/10.1038/ng0996-25"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng1095-137", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1023759216", 
          "https://doi.org/10.1038/ng1095-137"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1582-4934.2008.00406.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1026701591"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng844", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1027999649", 
          "https://doi.org/10.1038/ng844"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng844", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1027999649", 
          "https://doi.org/10.1038/ng844"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1242/dev.028118", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1030420940"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/humu.9370", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1031915744"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/bioinformatics/btp394", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1032266264"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1074/jbc.m109.091785", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1032637679"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nature11017", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1034041413", 
          "https://doi.org/10.1038/nature11017"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00467-009-1368-6", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1035264533", 
          "https://doi.org/10.1007/s00467-009-1368-6"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00467-009-1368-6", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1035264533", 
          "https://doi.org/10.1007/s00467-009-1368-6"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00467-009-1368-6", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1035264533", 
          "https://doi.org/10.1007/s00467-009-1368-6"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/path.2818", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1036691178"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/path.2913", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1039036014"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.cell.2010.11.055", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1045686167"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.cell.2012.04.024", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1045709558"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/bioinformatics/btq330", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1047117020"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1158/1078-0432.ccr-08-2330", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1051977227"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1182/blood-2012-06-438267", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052558735"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/humu.9371", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1053247025"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2013-08", 
    "datePublishedReg": "2013-08-01", 
    "description": "Chondrosarcoma is a heterogeneous collection of malignant bone tumors and is the second most common primary malignancy of bone after osteosarcoma. Recent work has identified frequent, recurrent mutations in IDH1 or IDH2 in nearly half of central chondrosarcomas. However, there has been little systematic genomic analysis of this tumor type, and, thus, the contribution of other genes is unclear. Here we report comprehensive genomic analyses of 49 individuals with chondrosarcoma (cases). We identified hypermutability of the major cartilage collagen gene COL2A1, with insertions, deletions and rearrangements identified in 37% of cases. The patterns of mutation were consistent with selection for variants likely to impair normal collagen biosynthesis. In addition, we identified mutations in IDH1 or IDH2 (59%), TP53 (20%), the RB1 pathway (33%) and Hedgehog signaling (18%). ", 
    "genre": "research_article", 
    "id": "sg:pub.10.1038/ng.2668", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": true, 
    "isFundedItemOf": [
      {
        "id": "sg:grant.3639747", 
        "type": "MonetaryGrant"
      }
    ], 
    "isPartOf": [
      {
        "id": "sg:journal.1103138", 
        "issn": [
          "1061-4036", 
          "1546-1718"
        ], 
        "name": "Nature Genetics", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "8", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "45"
      }
    ], 
    "name": "Frequent mutation of the major cartilage collagen gene COL2A1 in chondrosarcoma", 
    "pagination": "923-926", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "e8c4d8d0da22e1041dc04fa484fe00fd7a1c61208d505515c7a289f6acf98f86"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "23770606"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "9216904"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1038/ng.2668"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1048862000"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1038/ng.2668", 
      "https://app.dimensions.ai/details/publication/pub.1048862000"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-10T15:39", 
    "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
    "sdPublisher": {
      "name": "Springer Nature - SN SciGraph project", 
      "type": "Organization"
    }, 
    "sdSource": "s3://com-uberresearch-data-dimensions-target-20181106-alternative/cleanup/v134/2549eaecd7973599484d7c17b260dba0a4ecb94b/merge/v9/a6c9fde33151104705d4d7ff012ea9563521a3ce/jats-lookup/v90/0000000001_0000000264/records_8664_00000426.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "http://www.nature.com/articles/ng.2668"
  }
]
 

Download the RDF metadata as:  json-ld nt turtle xml License info

HOW TO GET THIS DATA PROGRAMMATICALLY:

JSON-LD is a popular format for linked data which is fully compatible with JSON.

curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1038/ng.2668'

N-Triples is a line-based linked data format ideal for batch operations.

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1038/ng.2668'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/ng.2668'

RDF/XML is a standard XML format for linked data.

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/ng.2668'


 

This table displays all metadata directly associated to this object as RDF triples.

455 TRIPLES      21 PREDICATES      68 URIs      34 LITERALS      22 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1038/ng.2668 schema:about N018ccc6ab0df4e0195c1acadaad60aee
2 N0a795cc20be54980a00fef87ac668088
3 N1e776d459c01472a8fa2b6bf9064cc42
4 N387d2ebdcec94898b690afa605b1201a
5 N4abf1b5d244d461fad8963f81c6b7e76
6 N73a5f083f2be47209aca1ef46f2b9b99
7 N74dc90f247284234918f950316ebdb48
8 N768ff3c2b42b4c049217ee326de12e40
9 N7f9eb204b8bd41908f74648d129d0c12
10 N975ffd9a52b74c5abce043b607093624
11 Nba9af923151b4366a083de8482d1313f
12 Nd162fef8b00e448ab4a98514adc7bb3d
13 Ne4c1b0c0cb204f16af3aecb91ba4fd8d
14 anzsrc-for:06
15 anzsrc-for:0604
16 schema:author N854b8ab9544f48b48ec8005729c48303
17 schema:citation sg:pub.10.1007/s00467-009-1368-6
18 sg:pub.10.1038/nature09639
19 sg:pub.10.1038/nature11017
20 sg:pub.10.1038/ng0996-25
21 sg:pub.10.1038/ng1095-137
22 sg:pub.10.1038/ng844
23 sg:pub.10.1038/nrg3152
24 https://doi.org/10.1002/humu.9370
25 https://doi.org/10.1002/humu.9371
26 https://doi.org/10.1002/jcp.22530
27 https://doi.org/10.1002/path.2818
28 https://doi.org/10.1002/path.2913
29 https://doi.org/10.1016/j.cell.2010.11.055
30 https://doi.org/10.1016/j.cell.2012.04.024
31 https://doi.org/10.1021/ml300225h
32 https://doi.org/10.1056/nejmoa1113538
33 https://doi.org/10.1073/pnas.1009843107
34 https://doi.org/10.1074/jbc.m109.091785
35 https://doi.org/10.1093/bioinformatics/btp394
36 https://doi.org/10.1093/bioinformatics/btp698
37 https://doi.org/10.1093/bioinformatics/btq330
38 https://doi.org/10.1111/j.1582-4934.2008.00406.x
39 https://doi.org/10.1152/ajpcell.00579.2002
40 https://doi.org/10.1158/1078-0432.ccr-08-2330
41 https://doi.org/10.1182/blood-2012-06-438267
42 https://doi.org/10.1242/dev.028118
43 schema:datePublished 2013-08
44 schema:datePublishedReg 2013-08-01
45 schema:description Chondrosarcoma is a heterogeneous collection of malignant bone tumors and is the second most common primary malignancy of bone after osteosarcoma. Recent work has identified frequent, recurrent mutations in IDH1 or IDH2 in nearly half of central chondrosarcomas. However, there has been little systematic genomic analysis of this tumor type, and, thus, the contribution of other genes is unclear. Here we report comprehensive genomic analyses of 49 individuals with chondrosarcoma (cases). We identified hypermutability of the major cartilage collagen gene COL2A1, with insertions, deletions and rearrangements identified in 37% of cases. The patterns of mutation were consistent with selection for variants likely to impair normal collagen biosynthesis. In addition, we identified mutations in IDH1 or IDH2 (59%), TP53 (20%), the RB1 pathway (33%) and Hedgehog signaling (18%).
46 schema:genre research_article
47 schema:inLanguage en
48 schema:isAccessibleForFree true
49 schema:isPartOf N0d6dfcde72c84606a8f35f36fdf2da52
50 N4598429b8bdf4d82849b3b12edf3c39e
51 sg:journal.1103138
52 schema:name Frequent mutation of the major cartilage collagen gene COL2A1 in chondrosarcoma
53 schema:pagination 923-926
54 schema:productId N0475e1c25f1141089da353ed176d839a
55 N06d11b67ccb6469b9865d4b9c692dc3e
56 N28a0e92cd54642568a16021873934e77
57 N8cfc4278331447ecbb18d2cca2664a9e
58 Nd9d108abbeb3439bbbaba7e59d3c14a1
59 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048862000
60 https://doi.org/10.1038/ng.2668
61 schema:sdDatePublished 2019-04-10T15:39
62 schema:sdLicense https://scigraph.springernature.com/explorer/license/
63 schema:sdPublisher Ndc4843048a91459690112af6df68a72e
64 schema:url http://www.nature.com/articles/ng.2668
65 sgo:license sg:explorer/license/
66 sgo:sdDataset articles
67 rdf:type schema:ScholarlyArticle
68 N018ccc6ab0df4e0195c1acadaad60aee schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
69 schema:name DNA Copy Number Variations
70 rdf:type schema:DefinedTerm
71 N03c44f64707d4b60aef65cfae67cbe55 rdf:first sg:person.0704160753.41
72 rdf:rest N6e6ae10e683f4ffaae3dbd14ae8b6226
73 N0475e1c25f1141089da353ed176d839a schema:name dimensions_id
74 schema:value pub.1048862000
75 rdf:type schema:PropertyValue
76 N06d11b67ccb6469b9865d4b9c692dc3e schema:name doi
77 schema:value 10.1038/ng.2668
78 rdf:type schema:PropertyValue
79 N093e9c345c014ed4b9ac25476b800167 rdf:first sg:person.01166432644.99
80 rdf:rest N15c24ecacc584c05a63d333eab9deac1
81 N0987afb3b2464fbf86a5ce240641e0b6 rdf:first sg:person.01251165601.38
82 rdf:rest N6ad6a5e0c64642c4ac1779d921a3bfb0
83 N0a795cc20be54980a00fef87ac668088 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
84 schema:name Hedgehog Proteins
85 rdf:type schema:DefinedTerm
86 N0c0f3428167049a1bf542463a3e304ee rdf:first sg:person.0776213413.27
87 rdf:rest Nfe8d95008db84cfc9a58f1af5af36005
88 N0d6dfcde72c84606a8f35f36fdf2da52 schema:issueNumber 8
89 rdf:type schema:PublicationIssue
90 N15c24ecacc584c05a63d333eab9deac1 rdf:first sg:person.0631231444.24
91 rdf:rest Na49b9a91f7d9401fb490a5120038d840
92 N1b9660afdd6e4d8a981a47d954f124c5 rdf:first sg:person.01252077430.47
93 rdf:rest N03c44f64707d4b60aef65cfae67cbe55
94 N1e776d459c01472a8fa2b6bf9064cc42 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
95 schema:name Collagen Type II
96 rdf:type schema:DefinedTerm
97 N28a0e92cd54642568a16021873934e77 schema:name readcube_id
98 schema:value e8c4d8d0da22e1041dc04fa484fe00fd7a1c61208d505515c7a289f6acf98f86
99 rdf:type schema:PropertyValue
100 N2ce793211c194b999e8f3ea79c982209 schema:affiliation N2fbb017ee9e34b2183030f0597a85de7
101 schema:familyName Amary
102 schema:givenName Fernanda
103 rdf:type schema:Person
104 N2ef3b2ad24ce43dba5148cce351c5f19 rdf:first sg:person.0672414220.51
105 rdf:rest Nbc3dfc016cc34445896f71ec14757848
106 N2f16121c942645dd99fec070fe820d0e rdf:first sg:person.01215214760.29
107 rdf:rest N4f30ff0a1f8240c39107f80c451be252
108 N2fbb017ee9e34b2183030f0597a85de7 schema:name Histopathology, Royal National Orthopaedic Hospital National Health Service (NHS) Trust, Stanmore, UK.
109 rdf:type schema:Organization
110 N387d2ebdcec94898b690afa605b1201a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
111 schema:name Polymorphism, Single Nucleotide
112 rdf:type schema:DefinedTerm
113 N3f4326bf21d74fdebdf0a65ae7b0cca1 rdf:first sg:person.01322170022.71
114 rdf:rest Nc4c6347c5a404a809efc57bd07b9adb9
115 N4598429b8bdf4d82849b3b12edf3c39e schema:volumeNumber 45
116 rdf:type schema:PublicationVolume
117 N4abf1b5d244d461fad8963f81c6b7e76 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
118 schema:name Signal Transduction
119 rdf:type schema:DefinedTerm
120 N4f30ff0a1f8240c39107f80c451be252 rdf:first sg:person.0600503324.34
121 rdf:rest Nebaa36da1c79448dbcecb49ae71b16cb
122 N5618bd34ef8c49f583cf31a34e7c3b6e rdf:first sg:person.0734601022.00
123 rdf:rest Nee191fe7ed724254bae17ccc112e0207
124 N671350bc21ca4fd689cb0fd13aa9acde rdf:first sg:person.01265476424.58
125 rdf:rest N8beb21cc1c1247c6b0b0c351045ebe32
126 N6a14bcb995e34ce6a5b02bd1973dd41f rdf:first sg:person.01363003204.20
127 rdf:rest N093e9c345c014ed4b9ac25476b800167
128 N6ad6a5e0c64642c4ac1779d921a3bfb0 rdf:first sg:person.01177240404.72
129 rdf:rest N671350bc21ca4fd689cb0fd13aa9acde
130 N6e6ae10e683f4ffaae3dbd14ae8b6226 rdf:first Nc5064a2d96b04cd6acbce9321bb0e015
131 rdf:rest N2f16121c942645dd99fec070fe820d0e
132 N73a5f083f2be47209aca1ef46f2b9b99 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
133 schema:name Databases, Genetic
134 rdf:type schema:DefinedTerm
135 N74dc90f247284234918f950316ebdb48 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
136 schema:name Humans
137 rdf:type schema:DefinedTerm
138 N768ff3c2b42b4c049217ee326de12e40 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
139 schema:name Retinoblastoma Protein
140 rdf:type schema:DefinedTerm
141 N7f9eb204b8bd41908f74648d129d0c12 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
142 schema:name Neoplasm Grading
143 rdf:type schema:DefinedTerm
144 N80db9a550ace4b05be06b2c49e168071 schema:affiliation https://www.grid.ac/institutes/grid.10306.34
145 schema:familyName Menzies
146 schema:givenName Andrew
147 rdf:type schema:Person
148 N854b8ab9544f48b48ec8005729c48303 rdf:first sg:person.01033754767.08
149 rdf:rest N2ef3b2ad24ce43dba5148cce351c5f19
150 N8b23dd44747b4d39ab8fd4535327c493 rdf:first sg:person.0653224107.08
151 rdf:rest rdf:nil
152 N8beb21cc1c1247c6b0b0c351045ebe32 rdf:first sg:person.01271567664.43
153 rdf:rest N5618bd34ef8c49f583cf31a34e7c3b6e
154 N8cfc4278331447ecbb18d2cca2664a9e schema:name pubmed_id
155 schema:value 23770606
156 rdf:type schema:PropertyValue
157 N92912361ced147208a078eb272195d2a rdf:first sg:person.01077273524.66
158 rdf:rest Ne2bd631824c543bdb6a753201ed5d0d2
159 N975ffd9a52b74c5abce043b607093624 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
160 schema:name Computational Biology
161 rdf:type schema:DefinedTerm
162 N9a69ab1181a8459e85408c249864c866 schema:name Histopathology, Royal National Orthopaedic Hospital National Health Service (NHS) Trust, Stanmore, UK.
163 rdf:type schema:Organization
164 Na49b9a91f7d9401fb490a5120038d840 rdf:first sg:person.01156276574.13
165 rdf:rest Nb37fac5ccf174a56868754a0403aa8e1
166 Na8e48ce74b4248be9ef36f9a30f03a7f rdf:first sg:person.01017630143.46
167 rdf:rest N1b9660afdd6e4d8a981a47d954f124c5
168 Nb2947e518ceb4ef09f16033b75d95106 rdf:first sg:person.010101505177.49
169 rdf:rest Nd7d515b74c204d5dbe2fd5be82cd641d
170 Nb37fac5ccf174a56868754a0403aa8e1 rdf:first sg:person.01364364727.31
171 rdf:rest Nb85dbc00b7ea4e08a6e31d4261fabb45
172 Nb85dbc00b7ea4e08a6e31d4261fabb45 rdf:first N80db9a550ace4b05be06b2c49e168071
173 rdf:rest Ne9a066ff5e7946ffb43ffdd3122158c6
174 Nba9af923151b4366a083de8482d1313f schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
175 schema:name Mutation
176 rdf:type schema:DefinedTerm
177 Nbc3dfc016cc34445896f71ec14757848 rdf:first sg:person.0612277137.01
178 rdf:rest Na8e48ce74b4248be9ef36f9a30f03a7f
179 Nc4c6347c5a404a809efc57bd07b9adb9 rdf:first sg:person.01107214731.24
180 rdf:rest Nc9223e5979aa472286c2de3134ae117f
181 Nc5064a2d96b04cd6acbce9321bb0e015 schema:affiliation https://www.grid.ac/institutes/grid.10306.34
182 schema:familyName Marshall
183 schema:givenName John
184 rdf:type schema:Person
185 Nc9223e5979aa472286c2de3134ae117f rdf:first Ne932670790eb45d8a4750dcb7ee06e30
186 rdf:rest N92912361ced147208a078eb272195d2a
187 Nd162fef8b00e448ab4a98514adc7bb3d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
188 schema:name Bone Neoplasms
189 rdf:type schema:DefinedTerm
190 Nd58d3b4fb68b4b47a6c16ab886e47e7e rdf:first sg:person.0716350025.21
191 rdf:rest Nb2947e518ceb4ef09f16033b75d95106
192 Nd7d515b74c204d5dbe2fd5be82cd641d rdf:first sg:person.0616627263.11
193 rdf:rest N8b23dd44747b4d39ab8fd4535327c493
194 Nd9d108abbeb3439bbbaba7e59d3c14a1 schema:name nlm_unique_id
195 schema:value 9216904
196 rdf:type schema:PropertyValue
197 Ndc4843048a91459690112af6df68a72e schema:name Springer Nature - SN SciGraph project
198 rdf:type schema:Organization
199 Ne2bd631824c543bdb6a753201ed5d0d2 rdf:first sg:person.01145406724.89
200 rdf:rest N0c0f3428167049a1bf542463a3e304ee
201 Ne4c1b0c0cb204f16af3aecb91ba4fd8d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
202 schema:name Chondrosarcoma
203 rdf:type schema:DefinedTerm
204 Ne932670790eb45d8a4750dcb7ee06e30 schema:affiliation https://www.grid.ac/institutes/grid.10306.34
205 schema:familyName Gamble
206 schema:givenName John
207 rdf:type schema:Person
208 Ne9a066ff5e7946ffb43ffdd3122158c6 rdf:first sg:person.01265731437.34
209 rdf:rest N0987afb3b2464fbf86a5ce240641e0b6
210 Nebaa36da1c79448dbcecb49ae71b16cb rdf:first sg:person.01230277005.30
211 rdf:rest N3f4326bf21d74fdebdf0a65ae7b0cca1
212 Nedef2a71d3604f5eb3547b813d33e949 schema:name Histopathology, Royal National Orthopaedic Hospital National Health Service (NHS) Trust, Stanmore, UK.
213 rdf:type schema:Organization
214 Nee191fe7ed724254bae17ccc112e0207 rdf:first N2ce793211c194b999e8f3ea79c982209
215 rdf:rest Nd58d3b4fb68b4b47a6c16ab886e47e7e
216 Nfe8d95008db84cfc9a58f1af5af36005 rdf:first sg:person.01133707727.19
217 rdf:rest N6a14bcb995e34ce6a5b02bd1973dd41f
218 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
219 schema:name Biological Sciences
220 rdf:type schema:DefinedTerm
221 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
222 schema:name Genetics
223 rdf:type schema:DefinedTerm
224 sg:grant.3639747 http://pending.schema.org/fundedItem sg:pub.10.1038/ng.2668
225 rdf:type schema:MonetaryGrant
226 sg:journal.1103138 schema:issn 1061-4036
227 1546-1718
228 schema:name Nature Genetics
229 rdf:type schema:Periodical
230 sg:person.010101505177.49 schema:affiliation https://www.grid.ac/institutes/grid.10306.34
231 schema:familyName Stratton
232 schema:givenName Michael R
233 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010101505177.49
234 rdf:type schema:Person
235 sg:person.01017630143.46 schema:affiliation https://www.grid.ac/institutes/grid.5596.f
236 schema:familyName Van Loo
237 schema:givenName Peter
238 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01017630143.46
239 rdf:type schema:Person
240 sg:person.01033754767.08 schema:affiliation https://www.grid.ac/institutes/grid.10306.34
241 schema:familyName Tarpey
242 schema:givenName Patrick S
243 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01033754767.08
244 rdf:type schema:Person
245 sg:person.01077273524.66 schema:affiliation https://www.grid.ac/institutes/grid.10306.34
246 schema:familyName Hardy
247 schema:givenName Claire
248 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01077273524.66
249 rdf:type schema:Person
250 sg:person.01107214731.24 schema:affiliation https://www.grid.ac/institutes/grid.10306.34
251 schema:familyName Butler
252 schema:givenName Adam
253 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01107214731.24
254 rdf:type schema:Person
255 sg:person.01133707727.19 schema:affiliation https://www.grid.ac/institutes/grid.10306.34
256 schema:familyName Jayakumar
257 schema:givenName Alagu
258 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01133707727.19
259 rdf:type schema:Person
260 sg:person.01145406724.89 schema:affiliation https://www.grid.ac/institutes/grid.10306.34
261 schema:familyName Hinton
262 schema:givenName Jonathon
263 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01145406724.89
264 rdf:type schema:Person
265 sg:person.01156276574.13 schema:affiliation https://www.grid.ac/institutes/grid.10306.34
266 schema:familyName Martin
267 schema:givenName Sancha
268 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01156276574.13
269 rdf:type schema:Person
270 sg:person.01166432644.99 schema:affiliation https://www.grid.ac/institutes/grid.10306.34
271 schema:familyName Latimer
272 schema:givenName Calli
273 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01166432644.99
274 rdf:type schema:Person
275 sg:person.01177240404.72 schema:affiliation https://www.grid.ac/institutes/grid.10306.34
276 schema:familyName Teague
277 schema:givenName Jon W
278 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01177240404.72
279 rdf:type schema:Person
280 sg:person.01215214760.29 schema:affiliation https://www.grid.ac/institutes/grid.10306.34
281 schema:familyName O'Meara
282 schema:givenName Sarah
283 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01215214760.29
284 rdf:type schema:Person
285 sg:person.01230277005.30 schema:affiliation https://www.grid.ac/institutes/grid.10306.34
286 schema:familyName Nik-Zainal
287 schema:givenName Serena
288 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01230277005.30
289 rdf:type schema:Person
290 sg:person.01251165601.38 schema:affiliation https://www.grid.ac/institutes/grid.10306.34
291 schema:familyName Raine
292 schema:givenName Keiran
293 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01251165601.38
294 rdf:type schema:Person
295 sg:person.01252077430.47 schema:affiliation https://www.grid.ac/institutes/grid.10306.34
296 schema:familyName Wedge
297 schema:givenName David C
298 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01252077430.47
299 rdf:type schema:Person
300 sg:person.01265476424.58 schema:affiliation https://www.grid.ac/institutes/grid.10306.34
301 schema:familyName Tubio
302 schema:givenName Jose M C
303 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01265476424.58
304 rdf:type schema:Person
305 sg:person.01265731437.34 schema:affiliation https://www.grid.ac/institutes/grid.10306.34
306 schema:familyName Mudie
307 schema:givenName Laura
308 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01265731437.34
309 rdf:type schema:Person
310 sg:person.01271567664.43 schema:affiliation N9a69ab1181a8459e85408c249864c866
311 schema:familyName Halai
312 schema:givenName Dina
313 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01271567664.43
314 rdf:type schema:Person
315 sg:person.01322170022.71 schema:affiliation https://www.grid.ac/institutes/grid.10306.34
316 schema:familyName Beare
317 schema:givenName David
318 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01322170022.71
319 rdf:type schema:Person
320 sg:person.01363003204.20 schema:affiliation https://www.grid.ac/institutes/grid.10306.34
321 schema:familyName Jones
322 schema:givenName David
323 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01363003204.20
324 rdf:type schema:Person
325 sg:person.01364364727.31 schema:affiliation https://www.grid.ac/institutes/grid.10306.34
326 schema:familyName McLaren
327 schema:givenName Stuart
328 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01364364727.31
329 rdf:type schema:Person
330 sg:person.0600503324.34 schema:affiliation https://www.grid.ac/institutes/grid.10306.34
331 schema:familyName Davies
332 schema:givenName Helen
333 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0600503324.34
334 rdf:type schema:Person
335 sg:person.0612277137.01 schema:affiliation https://www.grid.ac/institutes/grid.10306.34
336 schema:familyName Cooke
337 schema:givenName Susanna L
338 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0612277137.01
339 rdf:type schema:Person
340 sg:person.0616627263.11 schema:affiliation https://www.grid.ac/institutes/grid.83440.3b
341 schema:familyName Flanagan
342 schema:givenName Adrienne M
343 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0616627263.11
344 rdf:type schema:Person
345 sg:person.0631231444.24 schema:affiliation https://www.grid.ac/institutes/grid.10306.34
346 schema:familyName Maddison
347 schema:givenName Mark
348 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0631231444.24
349 rdf:type schema:Person
350 sg:person.0653224107.08 schema:affiliation https://www.grid.ac/institutes/grid.10306.34
351 schema:familyName Futreal
352 schema:givenName P Andrew
353 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0653224107.08
354 rdf:type schema:Person
355 sg:person.0672414220.51 schema:affiliation https://www.grid.ac/institutes/grid.5335.0
356 schema:familyName Behjati
357 schema:givenName Sam
358 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0672414220.51
359 rdf:type schema:Person
360 sg:person.0704160753.41 schema:affiliation https://www.grid.ac/institutes/grid.83440.3b
361 schema:familyName Pillay
362 schema:givenName Nischalan
363 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0704160753.41
364 rdf:type schema:Person
365 sg:person.0716350025.21 schema:affiliation https://www.grid.ac/institutes/grid.5335.0
366 schema:familyName Campbell
367 schema:givenName Peter J
368 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0716350025.21
369 rdf:type schema:Person
370 sg:person.0734601022.00 schema:affiliation Nedef2a71d3604f5eb3547b813d33e949
371 schema:familyName Tirabosco
372 schema:givenName Roberto
373 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0734601022.00
374 rdf:type schema:Person
375 sg:person.0776213413.27 schema:affiliation https://www.grid.ac/institutes/grid.10306.34
376 schema:familyName Jia
377 schema:givenName Ming Ming
378 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0776213413.27
379 rdf:type schema:Person
380 sg:pub.10.1007/s00467-009-1368-6 schema:sameAs https://app.dimensions.ai/details/publication/pub.1035264533
381 https://doi.org/10.1007/s00467-009-1368-6
382 rdf:type schema:CreativeWork
383 sg:pub.10.1038/nature09639 schema:sameAs https://app.dimensions.ai/details/publication/pub.1009539954
384 https://doi.org/10.1038/nature09639
385 rdf:type schema:CreativeWork
386 sg:pub.10.1038/nature11017 schema:sameAs https://app.dimensions.ai/details/publication/pub.1034041413
387 https://doi.org/10.1038/nature11017
388 rdf:type schema:CreativeWork
389 sg:pub.10.1038/ng0996-25 schema:sameAs https://app.dimensions.ai/details/publication/pub.1016496469
390 https://doi.org/10.1038/ng0996-25
391 rdf:type schema:CreativeWork
392 sg:pub.10.1038/ng1095-137 schema:sameAs https://app.dimensions.ai/details/publication/pub.1023759216
393 https://doi.org/10.1038/ng1095-137
394 rdf:type schema:CreativeWork
395 sg:pub.10.1038/ng844 schema:sameAs https://app.dimensions.ai/details/publication/pub.1027999649
396 https://doi.org/10.1038/ng844
397 rdf:type schema:CreativeWork
398 sg:pub.10.1038/nrg3152 schema:sameAs https://app.dimensions.ai/details/publication/pub.1015150428
399 https://doi.org/10.1038/nrg3152
400 rdf:type schema:CreativeWork
401 https://doi.org/10.1002/humu.9370 schema:sameAs https://app.dimensions.ai/details/publication/pub.1031915744
402 rdf:type schema:CreativeWork
403 https://doi.org/10.1002/humu.9371 schema:sameAs https://app.dimensions.ai/details/publication/pub.1053247025
404 rdf:type schema:CreativeWork
405 https://doi.org/10.1002/jcp.22530 schema:sameAs https://app.dimensions.ai/details/publication/pub.1014600452
406 rdf:type schema:CreativeWork
407 https://doi.org/10.1002/path.2818 schema:sameAs https://app.dimensions.ai/details/publication/pub.1036691178
408 rdf:type schema:CreativeWork
409 https://doi.org/10.1002/path.2913 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039036014
410 rdf:type schema:CreativeWork
411 https://doi.org/10.1016/j.cell.2010.11.055 schema:sameAs https://app.dimensions.ai/details/publication/pub.1045686167
412 rdf:type schema:CreativeWork
413 https://doi.org/10.1016/j.cell.2012.04.024 schema:sameAs https://app.dimensions.ai/details/publication/pub.1045709558
414 rdf:type schema:CreativeWork
415 https://doi.org/10.1021/ml300225h schema:sameAs https://app.dimensions.ai/details/publication/pub.1010469782
416 rdf:type schema:CreativeWork
417 https://doi.org/10.1056/nejmoa1113538 schema:sameAs https://app.dimensions.ai/details/publication/pub.1013931603
418 rdf:type schema:CreativeWork
419 https://doi.org/10.1073/pnas.1009843107 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007646723
420 rdf:type schema:CreativeWork
421 https://doi.org/10.1074/jbc.m109.091785 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032637679
422 rdf:type schema:CreativeWork
423 https://doi.org/10.1093/bioinformatics/btp394 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032266264
424 rdf:type schema:CreativeWork
425 https://doi.org/10.1093/bioinformatics/btp698 schema:sameAs https://app.dimensions.ai/details/publication/pub.1012031985
426 rdf:type schema:CreativeWork
427 https://doi.org/10.1093/bioinformatics/btq330 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047117020
428 rdf:type schema:CreativeWork
429 https://doi.org/10.1111/j.1582-4934.2008.00406.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1026701591
430 rdf:type schema:CreativeWork
431 https://doi.org/10.1152/ajpcell.00579.2002 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003503677
432 rdf:type schema:CreativeWork
433 https://doi.org/10.1158/1078-0432.ccr-08-2330 schema:sameAs https://app.dimensions.ai/details/publication/pub.1051977227
434 rdf:type schema:CreativeWork
435 https://doi.org/10.1182/blood-2012-06-438267 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052558735
436 rdf:type schema:CreativeWork
437 https://doi.org/10.1242/dev.028118 schema:sameAs https://app.dimensions.ai/details/publication/pub.1030420940
438 rdf:type schema:CreativeWork
439 https://www.grid.ac/institutes/grid.10306.34 schema:alternateName Wellcome Sanger Institute
440 schema:name Cancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK.
441 rdf:type schema:Organization
442 https://www.grid.ac/institutes/grid.5335.0 schema:alternateName University of Cambridge
443 schema:name Cancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK.
444 Department of Haematology, Addenbrooke's Hospital, Cambridge, UK.
445 Department of Haematology, University of Cambridge, Cambridge, UK.
446 Department of Paediatrics, University of Cambridge, Cambridge, UK.
447 rdf:type schema:Organization
448 https://www.grid.ac/institutes/grid.5596.f schema:alternateName KU Leuven
449 schema:name Cancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK.
450 Human Genome Laboratory, Department of Human Genetics, VIB and KU Leuven, Leuven, Belgium.
451 rdf:type schema:Organization
452 https://www.grid.ac/institutes/grid.83440.3b schema:alternateName University College London
453 schema:name Histopathology, Royal National Orthopaedic Hospital National Health Service (NHS) Trust, Stanmore, UK.
454 University College London (UCL) Cancer Institute, London, UK.
455 rdf:type schema:Organization
 




Preview window. Press ESC to close (or click here)


...