Nature Communications (Sep 2019)

Cooperation of cancer drivers with regulatory germline variants shapes clinical outcomes

  • Julian Musa,
  • Florencia Cidre-Aranaz,
  • Marie-Ming Aynaud,
  • Martin F. Orth,
  • Maximilian M. L. Knott,
  • Olivier Mirabeau,
  • Gal Mazor,
  • Mor Varon,
  • Tilman L. B. Hölting,
  • Sandrine Grossetête,
  • Moritz Gartlgruber,
  • Didier Surdez,
  • Julia S. Gerke,
  • Shunya Ohmura,
  • Aruna Marchetto,
  • Marlene Dallmayer,
  • Michaela C. Baldauf,
  • Stefanie Stein,
  • Giuseppina Sannino,
  • Jing Li,
  • Laura Romero-Pérez,
  • Frank Westermann,
  • Wolfgang Hartmann,
  • Uta Dirksen,
  • Melissa Gymrek,
  • Nathaniel D. Anderson,
  • Adam Shlien,
  • Barak Rotblat,
  • Thomas Kirchner,
  • Olivier Delattre,
  • Thomas G. P. Grünewald

DOI
https://doi.org/10.1038/s41467-019-12071-2
Journal volume & issue
Vol. 10, no. 1
pp. 1 – 10

Abstract

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Interactions between germline variants and somatic mutations is a relatively unexplored topic in cancer. Here, in Ewing sarcoma, the authors show that binding of the oncogenic EWSR1-FLI1 fusion transcription factor to a polymorphic enhancer-like DNA element controls MYBL2, whose high expression correlates with prognosis.