The driver landscape of sporadic chordoma.

doi:10.1038/s41467-017-01026-0

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Article

The driver landscape of sporadic chordoma.

Nature communications - 12 Oct 2017

Tarpey Patrick S, Behjati Sam, Young Matthew D, Martincorena Inigo, Alexandrov Ludmil B, Farndon Sarah J, Guzzo Charlotte, Hardy Claire, Latimer Calli, Butler Adam P, Teague Jon W, Shlien Adam, Futreal P Andrew, Shah Sohrab, Bashashati Ali, Jamshidi Farzad, Nielsen Torsten O, Huntsman David, Baumhoer Daniel, Brandner Sebastian, Wunder Jay, Dickson Brendan, Cogswell Patricia, Sommer Josh, Phillips Joanna J, Amary M Fernanda, Tirabosco Roberto, Pillay Nischalan, Yip Stephen, Stratton Michael R, Flanagan Adrienne M, Campbell Peter J

Abstract excerpt

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....

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PMID: 29026114
DOI: 10.1038/s41467-017-01026-0
PMCID: PMC5638846

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