Need Help?

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

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%).

Request Access

Studies are experimental investigations of a particular phenomenon, e.g., case-control studies on a particular trait or cancer research projects reporting matching cancer normal genomes from patients.

Study ID Study Title Study Type
EGAS00001000038 Cancer Genomics

This table displays only public information pertaining to the files in the dataset. If you wish to access this dataset, please submit a request. If you already have access to these data files, please consult the download documentation.

ID File Type Size Located in
EGAF00000070255 bam 10.3 GB
EGAF00000070258 bam 9.7 GB
EGAF00000070267 bam 6.9 GB
EGAF00000070268 bam 7.7 GB
EGAF00000070273 bam 10.5 GB
EGAF00000070277 bam 9.3 GB
EGAF00000070295 bam 8.1 GB
EGAF00000070298 bam 7.8 GB
EGAF00000070300 bam 8.1 GB
EGAF00000070303 bam 10.4 GB
EGAF00000070314 bam 8.0 GB
EGAF00000070321 bam 9.3 GB
EGAF00000070327 bam 6.5 GB
EGAF00000070328 bam 7.3 GB
EGAF00000070330 bam 9.9 GB
EGAF00000070331 bam 6.8 GB
EGAF00000070332 bam 6.6 GB
EGAF00000098751 bam 3.0 GB
EGAF00000098752 bam 2.9 GB
EGAF00000098753 bam 3.1 GB
EGAF00000098754 bam 6.2 GB
EGAF00000098755 bam 5.9 GB
EGAF00000098756 bam 6.2 GB
EGAF00000098757 bam 6.4 GB
EGAF00000098758 bam 6.1 GB
EGAF00000098759 bam 6.5 GB
26 Files (189.2 GB)