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dc.creatorMachiela, M.J. (Mitchell J.)-
dc.creatorGrünewald, T.G.P. (Thomas G. P.)-
dc.creatorSurdez, D. (Didier)-
dc.creatorReynaud, S. (Stephanie)-
dc.creatorMirabeau, O. (Olivier)-
dc.creatorKarlins, E. (Eric)-
dc.creatorRubio, R.A. (Rebeca Alba)-
dc.creatorZaidi, S. (Sakina)-
dc.creatorGrossetete-Lalami, S. (Sandrine)-
dc.creatorBallet, S. (Stelly)-
dc.creatorLapouble, E. (Eve)-
dc.creatorLaurence, V. (Valérie)-
dc.creatorMichon, J. (Jean)-
dc.creatorPierron, G. (Gaelle)-
dc.creatorKovar, H. (Heinrich)-
dc.creatorGaspar, N. (Nathalie)-
dc.creatorKontny, U. (Udo)-
dc.creatorGonzalez-Neira, A. (Anna)-
dc.creatorPicci, P. (Piero)-
dc.creatorAlonso, J. (Javier)-
dc.creatorPatiño-García, A. (Ana)-
dc.creatorCorradini, N. (Nadege)-
dc.creatorBérard, P.M. (Perrine Marec)-
dc.creatorFreedman, N.D. (Neal D.)-
dc.creatorRothman, N. (Nathaniel)-
dc.creatorDagnall, C. (Casey)-
dc.creatorBurdett, L. (Laurie)-
dc.creatorJones, K. (Krisitine)-
dc.creatorManning, M. (Michelle)-
dc.creatorWyatt, K. (Kathleen)-
dc.creatorZhou, W. (Weiyin)-
dc.creatorYeager, M. (Meredith)-
dc.creatorCox, D.G. (David G.)-
dc.creatorHoover, R.N. (Robert N.)-
dc.creatorKhan, J. (Javed)-
dc.creatorArmstrong, G.T. (Gregory T.)-
dc.creatorLeisenring, W.M. (Wendy M.)-
dc.creatorBhatia, S. (Smita)-
dc.creatorRobison, L.L. (Leslie L.)-
dc.creatorKulozik, A. (Andreas E.)-
dc.creatorKriebel, J. (Jennifer)-
dc.creatorMeitinger, T. (Thomas)-
dc.creatorMetzler, M. (Markus)-
dc.creatorHartmann, W. (Wolfgang)-
dc.creatorStrauch, K. (Konstantin)-
dc.creatorKirchner, T. (Thomas)-
dc.creatorDirksen, U. (Uta)-
dc.creatorMorton, L.M. (Lindsay M.)-
dc.creatorMirabello, L. (Lisa)-
dc.creatorTucker, M. (Margaret)-
dc.creatorTirode, F. (Franck)-
dc.creatorChanock, S.J. (Stephen J.)-
dc.creatorDelattre, O. (Olivier)-
dc.date.accessioned2023-02-21T13:03:33Z-
dc.date.available2023-02-21T13:03:33Z-
dc.date.issued2018-
dc.identifier.citationMachiela, M.J. (Mitchell J.); Grünewald, T.G.P. (Thomas G. P.); Surdez, D. (Didier); et al. "Genome-wide association study identifies multiple new loci associated with Ewing sarcoma susceptibility.". Nature communications. 9 (1), 2018, 3184es_ES
dc.identifier.issn2041-1723-
dc.identifier.urihttps://hdl.handle.net/10171/65523-
dc.description.abstractEwing 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.es_ES
dc.description.sponsorshipThis work was supported by the Intramural Research Program of the U.S. National Cancer Institute and the Intramural Research Program of the American Cancer Society. This work was supported by grants from the Institut Curie, the Inserm, the Ligue Nationale Contre le Cancer (Equipe labellisée, Carte d’Identité des Tumeurs program and Recherche Epidémiologique 2009 program), the ANR-10-EQPX-03 from the Agence Nationale de la Recherche, the European PROVABES (ERA-649 NET TRANSCAN JTC2011), and ASSET (FP7-HEALTH-2010-259348) projects. This research was supported by FP7 grant “EURO EWING Consortium” No. 602856 and the following associations: Courir pour Mathieu, Dans les pas du Géant, Les Bagouzamanon, Enfants et Santé, M la vie avec Lisa, Lulu et les petites bouilles de lune, les Amis de Claire, l’Etoile de Martin and the Société Française de lutte contre les Cancers et les leucémies de l’Enfant et de l’adolescent. The laboratory of T. G. P. Grünewald is supported by grants from the ‘Verein zur Förderung von Wissenschaft und Forschung an der Medizinischen Fakultät der LMU München (WiFoMed)’, by LMU Munich’s Institutional Strategy LMU excellent within the framework of the German Excellence Initiative, the ‘Mehr LEBEN für krebskranke Kinder—Bettina-Bräu-Stiftung’, the Walter Schulz Foundation, the Wilhelm Sander-Foundation (2016.167.1), and by the German Cancer Aid (DKH-111886 and DKH-70112257). D. Surdez is supported by SiRIC (Grant « INCa-DGOS-4654). We thank the following clinicians for providing samples used in this study: C. Alenda, F. Almazán, D. Ansoborlo, L. Aymerich, L. Benboukbher, C. Beléndez, C. Berger, C. Bergeron, P. Biron, J.Y. Blay, E. Bompas, H. Bonnefoi, P. Boutard, B. Bui-Nguyen, D. Chauveaux, C. Calvo, A. Carboné, C. Clement, T. Contra, N. Corradini, A.S. Defachelles, V. Gandemer-Delignieres, A. Deville, A. Echevarria, J. Fayette, M. Fraga, D. Frappaz, J.L. Fuster, P. García-Miguel, J.C. Gentet, P. Kerbrat, V. Laithier, V. Laurence, P. Leblond, O. Lejars, R. López-Almaraz, B. López-Ibor, P. Lutz, J.F. Mallet, L. Mansuy, P. Marec Bérard, G. Margueritte, A. Marie Cardine, C. Melero, L. Mignot, F. Millot, O. Minckes, G. Margueritte, C. Mata, M.E. Mateos, M. Melo, C. Moscardó, M. Munzer, B. Narciso, A. Navajas, D. Orbach, C. Oudot, H. Pacquement, C. Paillard, Y. Perel, T. Philip, C. Piguet, M.I. Pintor, D. Plantaz, E. Plouvier, S. Ramirez-Del-Villar, I. Ray-Coquard, Y. Reguerre, M. Rios, P. Rohrlich, H. Rubie, A. Sastre, G. Schleiermacher, C. Schmitt, P. Schneider, L. Sierrasesumaga, C. Soler, N. Sirvent, S. Taque, E. Thebaud, A. Thyss, R. Tichit, J.J. Uriz, J. P. Vannier, F. Watelle-Pichon. This work was supported by the Instituto de Salud Carlos III (PI16CIII/00026) and the Asociación Pablo Ugarte, Fundación Sonrisa de Alex, ASION-La Hucha de Tomás, Sociedad Española de Hematología y Oncología Pediátricas. The Childhood Cancer Survivor Study is supported by the National Cancer Institute (CA55727, G.T. Armstrong, Principal Investigator), with funding for genotyping from the Intramural Research Program of the National Institutes of Health, National Cancer Institute. The KORA study was initiated and financed by the Helmholtz Zentrum München—German Research Center for Environmental Health, which is funded by the German Federal Ministry of Education and Research (BMBF) and by the State of Bavaria. Furthermore, KORA research was supported within the Munich Center of Health Sciences (MC-Health), Ludwig-Maximilians-Universität, as part of LMUinnovativ.es_ES
dc.language.isoenges_ES
dc.publisherNature Researches_ES
dc.relationinfo:eu-repo/grantAgreement/EC/FP7/602856/EUes_ES
dc.relationinfo:eu-repo/grantAgreement/EC/FP7/259348/EUes_ES
dc.rightsinfo:eu-repo/semantics/openAccesses_ES
dc.subjectEwing sarcoma (EWS)es_ES
dc.subjectPediatric canceres_ES
dc.subjectGenome-wide association studyes_ES
dc.titleGenome-wide association study identifies multiple new loci associated with Ewing sarcoma susceptibility.es_ES
dc.typeinfo:eu-repo/semantics/articlees_ES
dc.description.noteThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/ licenses/by/4.0/.es_ES
dc.identifier.doi10.1038/s41467-018-05537-2-
dadun.citation.number1es_ES
dadun.citation.publicationNameNature communicationses_ES
dadun.citation.startingPage3184es_ES
dadun.citation.volume9es_ES

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