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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)
Publ. Version/Full Text Research data DOI PMC
Open Access Gold
Creative Commons Lizenzvertrag
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
Keywords Ggaa Microsatellite; Tumors; Gene; Rarity; Translocation; Landscape; Variants; Siblings; Negroes; Protein
Language
Publication Year 2018
HGF-reported in Year 2018
ISSN (print) / ISBN 2041-1723
e-ISSN 2041-1723
Journal Nature Communications
Quellenangaben Volume: 9, Issue: 1, Pages: , Article Number: 3184 Supplement: ,
Publisher Nature Publishing Group
Publishing Place London
Reviewing status Peer reviewed
Institute(s) Institute of Epidemiology (EPI)
Institute of Human Genetics (IHG)
Institute of Genetic Epidemiology (IGE)
POF-Topic(s) 30202 - Environmental Health
30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
Research field(s) Genetics and Epidemiology
PSP Element(s) G-504091-002
G-500700-001
G-504100-001
DOI 10.1038/s41467-018-05537-2
WOS ID WOS:000441157600019
Scopus ID 85051514728
PubMed ID 30093639
Erfassungsdatum 2018-09-10
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