ArticleAmerican journal of human genetics2023
Targeted long-read sequencing of the Ewing sarcoma 6p25.1 susceptibility locus identifies germline-somatic interactions with EWSR1-FLI1 binding.
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Article in American journal of human genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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9citing papers in PubMed
2.3field-weighted citation impact, top 11% of its field
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9 citing papers in PubMed, 9 citations in OpenAlex.
- 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
- Proof-of-concept study for the detection of somatic structural variant driver alterations using HiFi long-read sequencing in a pediatric leukemia cohort.NPJ genomic medicine · 2026Article
- Integrative screening identifies functional variants and VNTRs underlying GWAS signals at the 5p15.33 multi-cancer susceptibility locus.medRxiv : the preprint server for health sciences · 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
- Targeting metastasis in paediatric bone sarcomas.Molecular cancer · 2025Review
- Genetic regulation of TERT splicing affects cancer risk by altering cellular longevity and replicative potential.Nature communications · 2025Article
- Genetic regulation ofmedRxiv : the preprint server for health sciences · 2024Article
- Unlocking epigenetics for precision treatment of Ewing's sarcoma.Chinese journal of cancer research = Chung-kuo yen cheng yen chiu · 2024Article
- Subset scanning for multi-trait analysis using GWAS summary statistics.Bioinformatics (Oxford, England) · 2024Article
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Authors and funding
56 authors at 20 institutions in 4 countries.
Olivia W LeeDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA; Department of Bioinformatics and Computational Biology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
Calvin RodriguesInserm U830, PSL Université, Research Center, Institut Curie, 75005 Paris, France; SIREDO Oncology Centre, Institut Curie, 75005 Paris, France.
Shu-Hong LinDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA.
Wen LuoDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA; Cancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research, Leidos Biomedical Research Inc, Frederick, MD 21701, USA.
Kristine JonesDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA; Cancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research, Leidos Biomedical Research Inc, Frederick, MD 21701, USA.
Derek W BrownDivision 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; Cancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research, Leidos Biomedical Research Inc, Frederick, MD 21701, USA.
Eric KarlinsDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA; Cancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research, Leidos Biomedical Research Inc, Frederick, MD 21701, USA.
Sairah M KhanDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA.
Sylvain BaulandeICGex Next-Generation Sequencing Platform, PSL Université, Research Center, Institut Curie, 75005 Paris, France.
Virginie RaynalICGex Next-Generation Sequencing Platform, PSL Université, Research Center, Institut Curie, 75005 Paris, France.
Didier SurdezInserm U830, PSL Université, Research Center, Institut Curie, 75005 Paris, France; SIREDO Oncology Centre, Institut Curie, 75005 Paris, France; Balgrist University Hospital, Faculty of Medicine, University of Zurich (UZH), Zurich, Switzerland.
Stephanie ReynaudSIREDO Oncology Centre, Institut Curie, 75005 Paris, France; Unité de Génétique Somatique, Department of Genetics, Institut Curie Hospital, 75005 Paris, France.
Rebeca Alba RubioMax-Eder Research Group for Pediatric Sarcoma Biology, Institute of Pathology, Faculty of Medicine, LMU, 80337 Munich, Germany.
Sakina ZaidiInserm U830, PSL Université, Research Center, Institut Curie, 75005 Paris, France; SIREDO Oncology Centre, Institut Curie, 75005 Paris, France.
Sandrine GrossetêteInserm U830, PSL Université, Research Center, Institut Curie, 75005 Paris, France; SIREDO Oncology Centre, Institut Curie, 75005 Paris, France.
Stelly BalletSIREDO Oncology Centre, Institut Curie, 75005 Paris, France; Unité de Génétique Somatique, Department of Genetics, Institut Curie Hospital, 75005 Paris, France.
Eve LapoubleSIREDO Oncology Centre, Institut Curie, 75005 Paris, France; Unité de Génétique Somatique, Department of Genetics, Institut Curie Hospital, 75005 Paris, France.
Valérie LaurenceSIREDO Oncology Centre, Institut Curie, 75005 Paris, France.
Gaelle PierronSIREDO Oncology Centre, Institut Curie, 75005 Paris, France; Unité de Génétique Somatique, Department of Genetics, Institut Curie Hospital, 75005 Paris, France.
Nathalie GasparDepartment of Oncology for Child and Adolescent, Institut Gustave Roussy, 94800 Villejuif, France.
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.
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; Cancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research, Leidos Biomedical Research Inc, Frederick, MD 21701, USA.
Laurie BurdettDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA; Cancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research, Leidos Biomedical Research Inc, Frederick, MD 21701, USA.
Michelle ManningDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA; Cancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research, Leidos Biomedical Research Inc, Frederick, MD 21701, USA.
Kathleen WyattDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA; Cancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research, Leidos Biomedical Research Inc, Frederick, MD 21701, USA.
Meredith YeagerDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA; Cancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research, Leidos Biomedical Research Inc, Frederick, MD 21701, USA.
Raj ChariDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA; Genome Modification Core Laboratory, Frederick National Laboratory for Cancer Research, Frederick, MD 21701, USA.
Wendy M LeisenringCancer Prevention and Clinical Statistics Programs, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA.
Andreas E KulozikUniversity Children's Hospital of Heidelberg, 69120 Heidelberg, Germany.
Jennifer KriebelResearch Unit of Molecular Epidemiology, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany; Institute of Epidemiology, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany; German Center for Diabetes Research (DZD), 85764 München-Neuherberg, Germany.
Thomas MeitingerInstitute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany; Institute of Human Genetics, Technische Universität München, 80333 Munich, Germany.
Konstantin StrauchInstitute of Genetic Epidemiology, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany; Chair of Genetic Epidemiology, IBE, Faculty of Medicine, LMU, 80539 Munich, Germany.
Thomas KirchnerDivision of Translational Pediatric Sarcoma Research, German Cancer Research Center (DKFZ), German Cancer Consortium (DKTK), 69120 Heidelberg, Germany; Hopp-Children's Cancer Center (KiTZ), Heidelberg, Germany; Institute of Pathology, Faculty of Medicine, LMU, 80337 Munich, Germany.
Uta DirksenUniversity Children's Hospital of Essen, 45147 Essen, Germany.
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, PSL Université, Research Center, Institut Curie, 75005 Paris, France; SIREDO Oncology Centre, Institut Curie, 75005 Paris, France.
Gregory T ArmstrongDepartment of Epidemiology and Cancer Control, St. Jude Children's Research Hospital, Memphis, TN 38105, 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.
Yutaka YasuiDepartment of Epidemiology and Cancer Control, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
Laura Romero-PérezMax-Eder Research Group for Pediatric Sarcoma Biology, Institute of Pathology, Faculty of Medicine, LMU, 80337 Munich, Germany; Division of Translational Pediatric Sarcoma Research, German Cancer Research Center (DKFZ), German Cancer Consortium (DKTK), 69120 Heidelberg, Germany; Hopp-Children's Cancer Center (KiTZ), Heidelberg, Germany.
Wolfgang HartmannGerhard- Domagk Institute of Pathology, University Hospital of Münster, 48149 Münster, Germany.
Markus MetzlerUniversity Children's Hospital of Erlangen, 91054 Erlangen, Germany.
W Ryan DiverDepartment of Population Science, American Cancer Society, Atlanta, GA, USA.
Adriana LoriDepartment of Population Science, American Cancer Society, Atlanta, GA, USA.
Neal D FreedmanDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA.
Robert N HooverDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA.
Lindsay M MortonDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA.
Stephen J ChanockDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA.
Thomas G P GrünewaldMax-Eder Research Group for Pediatric Sarcoma Biology, Institute of Pathology, Faculty of Medicine, LMU, 80337 Munich, Germany; Division of Translational Pediatric Sarcoma Research, German Cancer Research Center (DKFZ), German Cancer Consortium (DKTK), 69120 Heidelberg, Germany; Hopp-Children's Cancer Center (KiTZ), Heidelberg, Germany; Institute of Pathology, Heidelberg University Hospital, Heidelberg, Germany.
Olivier DelattreInserm U830, PSL Université, Research Center, Institut Curie, 75005 Paris, France; SIREDO Oncology Centre, Institut Curie, 75005 Paris, France. Electronic address: olivier.delattre@curie.fr.
Mitchell J MachielaDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA. Electronic address: mitchell.machiela@nih.gov.
National Cancer Institute · USLeidos (United States) · USInserm · FRInstitut Curie · FRGerman Cancer Research Center · DEHelmholtz Zentrum München · DESt. Jude Children's Research Hospital · USAmerican Cancer Society · USUniversité Claude Bernard Lyon 1 · FRUniversité Paris Sciences et Lettres · FREssen University Hospital · DEFrederick National Laboratory for Cancer Research · USFred Hutch Cancer Center · USHeidelberg University · DEInstitut Gustave Roussy · FRLudwig-Maximilians-Universität München · DEThe University of Texas MD Anderson Cancer Center · USUniversitätsklinikum Erlangen · DEUniversity Hospital Münster · DEUniversity of Alabama at Birmingham · US
Funding
Viral Vector Technology (VVTSR)P30CA021765 · NCI · ST. JUDE CHILDREN'S RESEARCH HOSPITAL · PI Shondra Michelle Miller · 1985 to 2026
$166.9MMach-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
$96.7MNCI NIH HHS P30 CA021765NCI NIH HHS U24 CA055727
Abstract
Ewing sarcoma (EwS) is a rare bone and soft tissue malignancy driven by chromosomal translocations encoding chimeric transcription factors, such as EWSR1-FLI1, that bind GGAA motifs forming novel enhancers that alter nearby expression. We propose that germline microsatellite variation at the 6p25.1 EwS susceptibility locus could impact downstream gene expression and EwS biology. We performed targeted long-read sequencing of EwS blood DNA to characterize variation and genomic features important for EWSR1-FLI1 binding. We identified 50 microsatellite alleles at 6p25.1 and observed that EwS-affected individuals had longer alleles (>135 bp) with more GGAA repeats. The 6p25.1 GGAA microsatellite showed chromatin features of an EWSR1-FLI1 enhancer and regulated expression of RREB1, a transcription factor associated with RAS/MAPK signaling. RREB1 knockdown reduced proliferation and clonogenic potential and reduced expression of cell cycle and DNA replication genes. Our integrative analysis at 6p25.1 details increased binding of longer GGAA microsatellite alleles with acquired EWSR-FLI1 to promote Ewing sarcomagenesis by RREB1-mediated proliferation.
Indexed as
Bone NeoplasmsSarcoma, EwingAllelesCell Line, TumorGene Expression Regulation, NeoplasticHumansOncogene Proteins, FusionProto-Oncogene Protein c-fli-1RNA-Binding Protein EWSEWSR1-FLI1 fusion protein, humanEWSR1 protein, humanFLI1 protein, humanOncogene Proteins, FusionProto-Oncogene Protein c-fli-1RNA-Binding Protein EWS6p25.1Ewing sarcomaEWSR1-FLI1germline somatic interactionGGAA microsatelliteGWASlong-read sequencingRREB1
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