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


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