The driver landscape of sporadic chordoma

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

Format: Article
Diterbitkan: Nature Portfolio 2017-10-01

Deskripsi

Chordoma is a rare often incurable malignant bone tumour. Here, the authors investigate driver mutations of sporadic chordoma in 104 cases, revealing duplications in notochordal transcription factor brachyury (T), PI3K signalling mutations, and mutations in LYST, a potential novel cancer gene in chordoma.