Frequent mutation of the major cartilage collagen gene, COL2A1, in chondrosarcoma

Dataset ID Technology Samples
EGAD00001000358 Illumina HiSeq 2000 17

Dataset Description

Chondrosarcoma (CHS) is a heterogeneous collection of malignant bone tumours and is the second most common primary malignancy of bone after osteosarcoma. Recent work has identified frequent, recurrent mutations in IDH1/2 in nearly half of central CHS. However, there has been little systematic genomic analysis of this tumour type and thus the contribution of other genes is unclear. Here we report comprehensive genomic analyses of 49 cases of CHS. We identified hypermutability of the major cartilage collagen 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 IDH1/2 (59%), TP53 (20%), the RB1 pathway (27%) and hedgehog signaling (22%).

Data Use Conditions


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Label Code Version Modifier
general research use DUO:0000042 2019-01-07
not for profit, non commercial use only DUO:0000018 2019-01-07
health or medical or biomedical research DUO:0000006 2019-01-07
project specific restriction DUO:0000027 2019-01-07