ArticleNature communications2018
Genome-wide association study identifies multiple new loci associated with Ewing sarcoma susceptibility.
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Article in Nature communications, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers.
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47citing papers in PubMed
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Who cites it
47 citing papers in PubMed, 70 citations in OpenAlex.
- A Practical Compass to Biological Digital Resources and Omics Integration in Ewing Sarcoma.Methods in molecular biology (Clifton, N.J.) · 2027Article
- Germline Variation and Somatic Alterations in Ewing Sarcoma.Methods in molecular biology (Clifton, N.J.) · 2027Article
- Long-read analysis of tetrameric microsatellites with vmwhere supports GGAA repeat length-dependent chromatin state association in Ewing sarcoma.bioRxiv : the preprint server for biology · 2026Article
- Genome-wide association study meta-analysis identifies susceptibility loci informing Ewing sarcoma etiology and potential mechanisms of risk.medRxiv : the preprint server for health sciences · 2026Article
- Residential proximity to active and abandoned oil and gas development and risk of childhood Ewing sarcoma in California.Environmental health : a global access science source · 2026Article
- The Mutational Epidemiology of Childhood Cancer.Clinical chemistry · 2025Review
- Targeting metastasis in paediatric bone sarcomas.Molecular cancer · 2025Review
- Genetic predisposition in sarcomas: clinical implications and management.EClinicalMedicine · 2025Review
- Multi-omics profiling reveals key factors involved in Ewing sarcoma metastasis.Molecular oncology · 2025Article
- Re-envisioning genetic predisposition to childhood and adolescent cancers.Nature reviews. Cancer · 2025Review
- Genetics of Latin American Diversity Project: Insights into population genetics and association studies in admixed groups in the Americas.Cell genomics · 2024Article
- Genetic variation near GRB10 associated with bone growth and osteosarcoma risk in canine and human populations.Cancer epidemiology · 2024Article
- Contribution ofmedRxiv : the preprint server for health sciences · 2024Article
- Subset scanning for multi-trait analysis using GWAS summary statistics.Bioinformatics (Oxford, England) · 2024Article
- Serum biomarkers are altered in UK Biobank participants with mosaic chromosomal alterations.Human molecular genetics · 2023Article
- EWS/FLI1 Characterization, Activation, Repression, Target Genes and Therapeutic Opportunities in Ewing Sarcoma.International journal of molecular sciences · 2023Review
- Birth characteristics and risk of Ewing sarcoma.Cancer causes & control : CCC · 2023Article
- Sarcoma Predisposition in Dogs with a Comparative View to Human Orthologous Disease.Veterinary sciences · 2023Review
- Targeted long-read sequencing of the Ewing sarcoma 6p25.1 susceptibility locus identifies germline-somatic interactions with EWSR1-FLI1 binding.American journal of human genetics · 2023Article
- Clonal hematopoiesis due to mosaic chromosomal alterations: Impact on disease risk and mortality.Leukemia research · 2023Review
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Authors and funding
53 authors at 20 institutions in 6 countries.
Mitchell J MachielaDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, 20892, USA.ORCID http://orcid.org/0000-0001-6538-9705
Thomas G P GrünewaldMax-Eder Research Group for Pediatric Sarcoma Biology, Institute of Pathology, Faculty of Medicine, LMU, 80337, Munich, Germany.ORCID http://orcid.org/0000-0003-0920-7377
Didier SurdezInserm U830, Équipe Labellisés LNCC, PSL Université, Institut Curie, 75005, Paris, France.ORCID http://orcid.org/0000-0002-7118-7859
Stephanie ReynaudSIREDO Oncology Centre, Institut Curie, 75005, Paris, France.
Olivier MirabeauInserm U830, Équipe Labellisés LNCC, PSL Université, Institut Curie, 75005, Paris, France.
Eric KarlinsDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, 20892, USA.
Rebeca Alba RubioMax-Eder Research Group for Pediatric Sarcoma Biology, Institute of Pathology, Faculty of Medicine, LMU, 80337, Munich, Germany.
Sakina ZaidiInserm U830, Équipe Labellisés LNCC, PSL Université, Institut Curie, 75005, Paris, France.
Sandrine Grossetete-LalamiInserm U830, Équipe Labellisés LNCC, PSL Université, Institut Curie, 75005, Paris, France.
Stelly BalletSIREDO Oncology Centre, Institut Curie, 75005, Paris, France.
Eve LapoubleSIREDO Oncology Centre, Institut Curie, 75005, Paris, France.
Valérie LaurenceSIREDO Oncology Centre, Institut Curie, 75005, Paris, France.
Jean MichonSIREDO Oncology Centre, Institut Curie, 75005, Paris, France.
Gaelle PierronSIREDO Oncology Centre, Institut Curie, 75005, Paris, France.ORCID http://orcid.org/0000-0002-2536-7680
Heinrich KovarChildren's Cancer Research Institute, St. Anna Kinderkrebsforschung, 1090, Vienna, Austria.ORCID http://orcid.org/0000-0001-6873-9109
Nathalie GasparDepartment of Oncology for Child and Adolescent, Institut Gustave Roussy, 94800, Villejuif, France.
Udo KontnyDivision of Pediatric Hematology Oncology and Stem Cell Transplantation, Medical Faculty, RWTH Aachen University, 52062, Aachen, Germany.
Anna González-NeiraHuman Genotyping Unit-CeGen, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, 28029, Madrid, Spain.
Piero PicciLaboratorio di Oncologia Sperimentale, Istituto Ortopedico Rizzoli di Bologna, 40136, Bologna, Italy.
Javier AlonsoUnidad de Tumores Sólidos Infantiles, Instituto de Investigación de Enfermedades Raras, Instituto de Salud Carlos III, 28220, Majadahonda, Spain.ORCID http://orcid.org/0000-0002-6287-8391
Ana Patino-GarciaLaboratory of Pediatrics, University of Navarra, University Clinic of Navarra, IdiSNA, 31008, Pamplona, Spain.
Nadège CorradiniInstitute for Paediatric Haematology and Oncology, Leon Bérard Cancer Centre, University of Lyon, 69008, Lyon, France.
Perrine Marec BérardInstitute for Paediatric Haematology and Oncology, Leon Bérard Cancer Centre, University of Lyon, 69008, Lyon, France.
Neal D FreedmanDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, 20892, USA.
Nathaniel RothmanDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, 20892, USA.
Casey L DagnallDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, 20892, USA.ORCID http://orcid.org/0000-0001-7334-4718
Laurie BurdettDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, 20892, USA.
Kristine JonesDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, 20892, USA.
Michelle ManningDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, 20892, USA.
Kathleen WyattDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, 20892, USA.
Weiyin ZhouDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, 20892, USA.
Meredith YeagerDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, 20892, USA.
David G CoxCentre Léon Bérard, INSERM U1052, 69008, Lyon, France.
Robert N HooverDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, 20892, USA.
Javed KhanGenetics Branch, Center for Cancer Research, National Cancer Institute, Bethesda, MD, 20892, USA.
Gregory T ArmstrongDepartment of Epidemiology and Cancer Control, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA.
Wendy M LeisenringCancer Prevention and Clinical Statistics Programs, Fred Hutchinson Cancer Research Center, Seattle, WA, 98109, USA.
Smita BhatiaInstitute for Cancer Outcomes and Survivorship, University of Alabama, Birmingham, AL, 35294, USA.
Leslie L RobisonDepartment of Epidemiology and Cancer Control, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA.
Andreas E KulozikUniversity Children's Hospital of Heidelberg, 69120, Heidelberg, Germany.ORCID http://orcid.org/0000-0003-1953-0848
Jennifer KriebelResearch Unit of Molecular Epidemiology, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764, Neuherberg, Germany.ORCID http://orcid.org/0000-0003-4270-018X
Thomas MeitingerInstitute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764, Neuherberg, Germany.
Markus MetzlerUniversity Children's Hospital of Erlangen, 91054, Erlangen, Germany.
Wolfgang HartmannGerhard-Domagk Institute of Pathology, University Hospital of Münster, 48149, Münster, Germany.
Konstantin StrauchInstitute of Genetic Epidemiology, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764, Neuherberg, Germany.
Thomas KirchnerGerman Consortium for Cancer Research (DKTK), 69120, Heidelberg, Germany.
Uta DirksenUniversity Children's Hospital of Essen, 45147, Essen, Germany.
Lindsay M MortonDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, 20892, USA.
Lisa MirabelloDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, 20892, USA.
Margaret A TuckerDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, 20892, USA.
Franck TirodeInserm U830, Équipe Labellisés LNCC, PSL Université, Institut Curie, 75005, Paris, France.
Stephen J ChanockDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, 20892, USA. chanocks@mail.nih.gov.
Olivier DelattreInserm U830, Équipe Labellisés LNCC, PSL Université, Institut Curie, 75005, Paris, France. olivier.delattre@curie.fr.
National Cancer Institute · USLeidos (United States) · USInserm · FRInstitut Curie · FRHelmholtz Zentrum München · DEGerman Cancer Research Center · DESt. Jude Children's Research Hospital · USUniversité Claude Bernard Lyon 1 · FRClinica Universidad de Navarra · ESEssen University Hospital · DEFred Hutch Cancer Center · USHeidelberg University · DEInstitut Gustave Roussy · FRInstituto de Salud Carlos III · ESIstituto Ortopedico Rizzoli · ITLudwig-Maximilians-Universität München · DERWTH Aachen University · DESpanish National Cancer Research Centre · ESSt Anna Children's Hospital · ATUniversitätsklinikum Erlangen · DE
Funding
Mach-LETSGO: Machine-LEarning of Treatment, Survey, and Genetics towards Obtaining Correct Classification of Chronic Conditions in Adult Survivors in the Childhood Cancer Survivor Study - CCSS SupplU24CA055727 · NCI · UNIVERSITY OF MINNESOTA TWIN CITIES · PI Gregory Armstrong · 1999 to 2026
$96.7MBIOINFORMATICS: SYSTEMS BIOLOGY OF PEDIATRIC CANCERSZIABC011002 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI KHAN, JAVED · 2009 to 2025
$9.3MNCI NIH HHS U24 CA055727U.S. Department of Health & Human Services | NIH | National Cancer Institute (NCI) Intramural Research Program
Abstract
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.
Indexed as
Gene Expression ProfilingGenetic Predisposition to DiseaseGenome-Wide Association StudyAllelesCell Cycle ProteinsCell ProliferationDNA-Binding ProteinsGene Expression Regulation, NeoplasticGenotypeHomeobox Protein Nkx-2.2Homeodomain ProteinsHumansNuclear ProteinsOncogene Proteins, FusionPolymorphism, Single NucleotideProto-Oncogene Protein c-fli-1Cell Cycle ProteinsDNA-Binding ProteinsEWS-FLI fusion proteinHomeobox Protein Nkx-2.2Homeodomain ProteinsKIZ protein, humannkx2.2b protein, zebrafishNKX2-2 protein, humanNuclear ProteinsOncogene Proteins, FusionProto-Oncogene Protein c-fli-1RNA-Binding Protein EWSRREB1 protein, humanTranscription FactorsZebrafish Proteins
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