Nature Communications (Aug 2018)

Genome-wide association study identifies multiple new loci associated with Ewing sarcoma susceptibility

  • Mitchell J. Machiela,
  • Thomas G. P. Grünewald,
  • Didier Surdez,
  • Stephanie Reynaud,
  • Olivier Mirabeau,
  • Eric Karlins,
  • Rebeca Alba Rubio,
  • Sakina Zaidi,
  • Sandrine Grossetete-Lalami,
  • Stelly Ballet,
  • Eve Lapouble,
  • Valérie Laurence,
  • Jean Michon,
  • Gaelle Pierron,
  • Heinrich Kovar,
  • Nathalie Gaspar,
  • Udo Kontny,
  • Anna González-Neira,
  • Piero Picci,
  • Javier Alonso,
  • Ana Patino-Garcia,
  • Nadège Corradini,
  • Perrine Marec Bérard,
  • Neal D. Freedman,
  • Nathaniel Rothman,
  • Casey L. Dagnall,
  • Laurie Burdett,
  • Kristine Jones,
  • Michelle Manning,
  • Kathleen Wyatt,
  • Weiyin Zhou,
  • Meredith Yeager,
  • David G. Cox,
  • Robert N. Hoover,
  • Javed Khan,
  • Gregory T. Armstrong,
  • Wendy M. Leisenring,
  • Smita Bhatia,
  • Leslie L. Robison,
  • Andreas E. Kulozik,
  • Jennifer Kriebel,
  • Thomas Meitinger,
  • Markus Metzler,
  • Wolfgang Hartmann,
  • Konstantin Strauch,
  • Thomas Kirchner,
  • Uta Dirksen,
  • Lindsay M. Morton,
  • Lisa Mirabello,
  • Margaret A. Tucker,
  • Franck Tirode,
  • Stephen J. Chanock,
  • Olivier Delattre

DOI
https://doi.org/10.1038/s41467-018-05537-2
Journal volume & issue
Vol. 9, no. 1
pp. 1 – 8

Abstract

Read online

Ewing sarcoma (EWS) is a rare pediatric bone cancer typically involving the EWSR1-FLI1 fusion. Here the authors perform a genome-wide association study and report three new EWS risk loci that reside near GGAA repeat sequences, and identify candidate genes (RREB1 and KIZ) from eQTL analysis.