| Literature DB >> 23770606 |
Patrick S Tarpey1, 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%).Entities:
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Year: 2013 PMID： 23770606 PMCID： PMC3743157 DOI： 10.1038/ng.2668
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330