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Machiela, M.J.* ; Grünewald, T.G.P.* ; Surdez, D.* ; Reynaud, S.* ; Mirabeau, O.* ; Karlins, E.* ; Rubio, R.A.* ; Zaidi, S.* ; Grossetete-Lalami, S.* ; Ballet, S.* ; Lapouble, E.* ; Laurence, V.* ; Michon, J.* ; Pierron, G.* ; Kovar, H.* ; Gaspar, N.* ; Kontny, U.* ; González-Neira, A.* ; Picci, P.* ; Alonso, J.* ; Patino-Garcia, A.* ; Corradini, N.* ; Bérard, P.M.* ; Freedman, N.D.* ; Rothman, N.* ; Dagnall, C.L.* ; Burdett, L.* ; Jones, K.* ; Manning, M.* ; Wyatt, K.* ; Zhou, W.* ; Yeager, M.* ; Cox, D.G.* ; Hoover, R.N.* ; Khan, J.C.* ; Armstrong, G.T.* ; Leisenring, W.M.* ; Bhatia, S.* ; Robison, L.L.* ; Kulozik, A.E.* ; Kriebel, J. ; Meitinger, T. ; Metzler, M.* ; Hartmann, W.* ; Strauch, K. ; Kirchner, T.* ; Dirksen, U.* ; Morton, L.M.* ; Mirabello, L.* ; Tucker, M.A.* ; Tirode, F.* ; Chanock, S.J.* ; Delattre, O.*

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

Nat. Commun. 9:3184 (2018)

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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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Publication type Article: Journal article

Document type Scientific Article

Corresponding Author

Keywords Ggaa Microsatellite; Tumors; Gene; Rarity; Translocation; Landscape; Variants; Siblings; Negroes; Protein

ISSN (print) / ISBN 2041-1723

e-ISSN 2041-1723

Journal Nature Communications

Quellenangaben Volume: 9, Issue: 1, Article Number: 3184

Publisher Nature Publishing Group

Publishing Place London

Non-patent literature Publications

Reviewing status Peer reviewed

Institute(s) Institute of Epidemiology II (EPI2)
Institute of Human Genetics (IHG)
Institute of Genetic Epidemiology (IGE)