Journal
NATURE COMMUNICATIONS
Volume 9, Issue -, Pages -Publisher
NATURE PORTFOLIO
DOI: 10.1038/s41467-018-05537-2
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Funding
- Intramural Research Program of the U.S. National Cancer Institute
- Intramural Research Program of the American Cancer Society
- Institut Curie
- Inserm
- Ligue Nationale Contre le Cancer
- Agence Nationale de la Recherche [ANR-10-EQPX-03]
- European PROVABES project [ERA-649 NET TRANSCAN JTC-2011]
- European ASSET project [FP7-HEALTH-2010-259348]
- FP7 grant EURO EWING Consortium [602856]
- Courir pour Mathieu
- Dans les pas du Geant
- Les Bagouzamanon
- Enfants et Sante
- M la vie avec Lisa
- Lulu et les petites bouilles de lune
- les Amis de Claire
- l'Etoile de Martin
- Societe Francaise de lutte contre les Cancers et les leucemies de l'Enfant et de l'adolescent
- Verein zur Forderung von Wissenschaft und Forschung an der Medizinischen Fakultat der LMU Munchen (WiFoMed)
- LMU Munich's Institutional Strategy LMU excellent
- Mehr LEBEN fur krebskranke Kinder-Bettina-Brau-Stiftung
- Walter Schulz Foundation
- Wilhelm Sander-Foundation [2016.167.1]
- German Cancer Aid [DKH-111886, DKH-70112257]
- SiRIC [INCa-DGOS-4654]
- Instituto de Salud Carlos III [PI16CIII/00026]
- Asociacion Pablo Ugarte, Fundacion Sonrisa de Alex, ASION-La Hucha de Tomas, Sociedad Espanola de Hematologia y Oncologia Pediatricas
- National Cancer Institute [CA55727]
- Intramural Research Program of the National Institutes of Health, National Cancer Institute
- Helmholtz Zentrum Munchen-German Research Center for Environmental Health - German Federal Ministry of Education and Research (BMBF)
- State of Bavaria
- Munich Center of Health Sciences (MC-Health), Ludwig-Maximilians-Universitat, as part of LMUinnovativ
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Ewing sarcoma (EWS) is a pediatric cancer characterized by the EWSR1-FLI1 fusion. We performed a genome-wide association study of 733 EWS cases and 1346 unaffected individuals of European ancestry. Our study replicates previously reported susceptibility loci at 1p36.22, 10q21.3 and 15q15.1, and identifies new loci at 6p25.1, 20p11.22 and 20p11.23. Effect estimates exhibit odds ratios in excess of 1.7, which is high for cancer GWAS, and striking in light of the rarity of EWS cases in familial cancer syndromes. Expression quantitative trait locus (eQTL) analyses identify candidate genes at 6p25.1 (RREB1) and 20p11.23 (KIZ). The 20p11.22 locus is near NKX2-2, a highly overexpressed gene in EWS. Interestingly, most loci reside near GGAA repeat sequences and may disrupt binding of the EWSR1-FLI1 fusion protein. The high locus to case discovery ratio from 733 EWS cases suggests a genetic architecture in which moderate risk SNPs constitute a significant fraction of risk.
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