Nature Communications (Jun 2017)

Recurrent mutation of IGF signalling genes and distinct patterns of genomic rearrangement in osteosarcoma

  • Sam Behjati,
  • Patrick S. Tarpey,
  • Kerstin Haase,
  • Hongtao Ye,
  • Matthew D. Young,
  • Ludmil B. Alexandrov,
  • Sarah J. Farndon,
  • Grace Collord,
  • David C. Wedge,
  • Inigo Martincorena,
  • Susanna L. Cooke,
  • Helen Davies,
  • William Mifsud,
  • Mathias Lidgren,
  • Sancha Martin,
  • Calli Latimer,
  • Mark Maddison,
  • Adam P. Butler,
  • Jon W. Teague,
  • Nischalan Pillay,
  • Adam Shlien,
  • Ultan McDermott,
  • P. Andrew Futreal,
  • Daniel Baumhoer,
  • Olga Zaikova,
  • Bodil Bjerkehagen,
  • Ola Myklebost,
  • M. Fernanda Amary,
  • Roberto Tirabosco,
  • Peter Van Loo,
  • Michael R. Stratton,
  • Adrienne M. Flanagan,
  • Peter J. Campbell

DOI
https://doi.org/10.1038/ncomms15936
Journal volume & issue
Vol. 8, no. 1
pp. 1 – 8

Abstract

Read online

Osteosarcoma is a primary malignancy of bone that affects children and adults. Here, the authors sequence childhood and adult osteosarcomas, identifying mutations in insulin-like growth factor signalling genes and distinct genomic rearrangement profiles characterized by chromothripsis-amplification.