Journal
NATURE COMMUNICATIONS
Volume 8, Issue -, Pages -Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/s41467-017-01026-0
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Funding
- Wellcome Trust
- Skeletal Cancer Action Trust UK
- Royal National Orthopaedic Hospital NHS Trust
- Rosetrees Trust
- Chordoma Foundation USA
- Chordoma UK
- Terry Fox Research Institute
- National Institute for Health Research
- UCLH Biomedical Research Centre
- UCL Experimental Cancer Centre
- Wellcome Trust Intermediate Clinical Research Fellowship
- St. Baldrick's Foundation Robert J. Arceci International Innovation Award
- Wellcome Trust Senior Clinical Research Fellowship
- CRUK
- MRC [G1100578, G0701018, MR/N004272/1] Funding Source: UKRI
- Cancer Research UK [21777] Funding Source: researchfish
- National Institute for Health Research [NF-SI-0616-10112] Funding Source: researchfish
- Rosetrees Trust [M23-F1, M46-F1] Funding Source: researchfish
- Sarcoma UK [SUK08.2012, SUK209.2016, SUK26.2015] Funding Source: researchfish
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Chordoma is a malignant, often incurable bone tumour showing notochordal differentiation. Here, we defined the somatic driver landscape of 104 cases of sporadic chordoma. We reveal somatic duplications of the notochordal transcription factor brachyury (T) in up to 27% of cases. These variants recapitulate the rearrangement architecture of the pathogenic germline duplications of T that underlie familial chordoma. In addition, we find potentially clinically actionable PI3K signalling mutations in 16% of cases. Intriguingly, one of the most frequently altered genes, mutated exclusively by inactivating mutation, was LYST (10%), which may represent a novel cancer gene in chordoma.
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