Ontology type: schema:ScholarlyArticle Open Access: True
2018-08-09
AUTHORSMitchell J. Machiela, Thomas G. P. Grünewald, Didier Surdez, Stephanie Reynaud, Olivier Mirabeau, Eric Karlins, Rebeca Alba Rubio, Sakina Zaidi, Sandrine Grossetete-Lalami, Stelly Ballet, Eve Lapouble, Valérie Laurence, Jean Michon, Gaelle Pierron, Heinrich Kovar, Nathalie Gaspar, Udo Kontny, Anna González-Neira, Piero Picci, Javier Alonso, Ana Patino-Garcia, Nadège Corradini, Perrine Marec Bérard, Neal D. Freedman, Nathaniel Rothman, Casey L. Dagnall, Laurie Burdett, Kristine Jones, Michelle Manning, Kathleen Wyatt, Weiyin Zhou, Meredith Yeager, David G. Cox, Robert N. Hoover, Javed Khan, Gregory T. Armstrong, Wendy M. Leisenring, Smita Bhatia, Leslie L. Robison, Andreas E. Kulozik, Jennifer Kriebel, Thomas Meitinger, Markus Metzler, Wolfgang Hartmann, Konstantin Strauch, Thomas Kirchner, Uta Dirksen, Lindsay M. Morton, Lisa Mirabello, Margaret A. Tucker, Franck Tirode, Stephen J. Chanock, Olivier Delattre
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. More... »
PAGES3184
http://scigraph.springernature.com/pub.10.1038/s41467-018-05537-2
DOIhttp://dx.doi.org/10.1038/s41467-018-05537-2
DIMENSIONShttps://app.dimensions.ai/details/publication/pub.1105993569
PUBMEDhttps://www.ncbi.nlm.nih.gov/pubmed/30093639
JSON-LD is the canonical representation for SciGraph data.
TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT
[
{
"@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json",
"about": [
{
"id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/06",
"inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/",
"name": "Biological Sciences",
"type": "DefinedTerm"
},
{
"id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/11",
"inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/",
"name": "Medical and Health Sciences",
"type": "DefinedTerm"
},
{
"id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/0604",
"inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/",
"name": "Genetics",
"type": "DefinedTerm"
},
{
"id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/1112",
"inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/",
"name": "Oncology and Carcinogenesis",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Alleles",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Cell Cycle Proteins",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Cell Proliferation",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "DNA-Binding Proteins",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Gene Expression Profiling",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Gene Expression Regulation, Neoplastic",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Genetic Predisposition to Disease",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Genome-Wide Association Study",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Genotype",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Homeobox Protein Nkx-2.2",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Homeodomain Proteins",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Humans",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Nuclear Proteins",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Oncogene Proteins, Fusion",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Polymorphism, Single Nucleotide",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Proto-Oncogene Protein c-fli-1",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Quality Control",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Quantitative Trait Loci",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "RNA-Binding Protein EWS",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Risk",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Sarcoma, Ewing",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Transcription Factors",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Whites",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Zebrafish Proteins",
"type": "DefinedTerm"
}
],
"author": [
{
"affiliation": {
"alternateName": "Division of Cancer Epidemiology and Genetics, National Cancer Institute, 20892, Bethesda, MD, USA",
"id": "http://www.grid.ac/institutes/grid.48336.3a",
"name": [
"Division of Cancer Epidemiology and Genetics, National Cancer Institute, 20892, Bethesda, MD, USA"
],
"type": "Organization"
},
"familyName": "Machiela",
"givenName": "Mitchell J.",
"id": "sg:person.01077600005.78",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01077600005.78"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "German Cancer Research Center (DKFZ), 69120, Heidelberg, Germany",
"id": "http://www.grid.ac/institutes/grid.7497.d",
"name": [
"Max-Eder Research Group for Pediatric Sarcoma Biology, Institute of Pathology, Faculty of Medicine, LMU, 80337, Munich, Germany",
"German Consortium for Cancer Research (DKTK), 69120, Heidelberg, Germany",
"German Cancer Research Center (DKFZ), 69120, Heidelberg, Germany"
],
"type": "Organization"
},
"familyName": "Gr\u00fcnewald",
"givenName": "Thomas G. P.",
"id": "sg:person.011760666737.25",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011760666737.25"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "SIREDO Oncology Centre, Institut Curie, 75005, Paris, France",
"id": "http://www.grid.ac/institutes/grid.418596.7",
"name": [
"Inserm U830, \u00c9quipe Labellis\u00e9s LNCC, PSL Universit\u00e9, Institut Curie, 75005, Paris, France",
"SIREDO Oncology Centre, Institut Curie, 75005, Paris, France"
],
"type": "Organization"
},
"familyName": "Surdez",
"givenName": "Didier",
"id": "sg:person.01014131131.48",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01014131131.48"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Unit\u00e9 de G\u00e9n\u00e9tique Somatique, Institut Curie, Centre Hospitalier, 75005, Paris, France",
"id": "http://www.grid.ac/institutes/grid.418596.7",
"name": [
"SIREDO Oncology Centre, Institut Curie, 75005, Paris, France",
"Unit\u00e9 de G\u00e9n\u00e9tique Somatique, Institut Curie, Centre Hospitalier, 75005, Paris, France"
],
"type": "Organization"
},
"familyName": "Reynaud",
"givenName": "Stephanie",
"id": "sg:person.01261541431.94",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01261541431.94"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "SIREDO Oncology Centre, Institut Curie, 75005, Paris, France",
"id": "http://www.grid.ac/institutes/grid.418596.7",
"name": [
"Inserm U830, \u00c9quipe Labellis\u00e9s LNCC, PSL Universit\u00e9, Institut Curie, 75005, Paris, France",
"SIREDO Oncology Centre, Institut Curie, 75005, Paris, France"
],
"type": "Organization"
},
"familyName": "Mirabeau",
"givenName": "Olivier",
"id": "sg:person.01305556372.77",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01305556372.77"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Cancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research, Leidos Biomedical Research Inc, 21701, Frederick, MD, USA",
"id": "http://www.grid.ac/institutes/grid.418021.e",
"name": [
"Division of Cancer Epidemiology and Genetics, National Cancer Institute, 20892, Bethesda, MD, USA",
"Cancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research, Leidos Biomedical Research Inc, 21701, Frederick, MD, USA"
],
"type": "Organization"
},
"familyName": "Karlins",
"givenName": "Eric",
"id": "sg:person.01303313264.40",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01303313264.40"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Max-Eder Research Group for Pediatric Sarcoma Biology, Institute of Pathology, Faculty of Medicine, LMU, 80337, Munich, Germany",
"id": "http://www.grid.ac/institutes/grid.5252.0",
"name": [
"Max-Eder Research Group for Pediatric Sarcoma Biology, Institute of Pathology, Faculty of Medicine, LMU, 80337, Munich, Germany"
],
"type": "Organization"
},
"familyName": "Rubio",
"givenName": "Rebeca Alba",
"id": "sg:person.016370072765.65",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016370072765.65"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "SIREDO Oncology Centre, Institut Curie, 75005, Paris, France",
"id": "http://www.grid.ac/institutes/grid.418596.7",
"name": [
"Inserm U830, \u00c9quipe Labellis\u00e9s LNCC, PSL Universit\u00e9, Institut Curie, 75005, Paris, France",
"SIREDO Oncology Centre, Institut Curie, 75005, Paris, France"
],
"type": "Organization"
},
"familyName": "Zaidi",
"givenName": "Sakina",
"id": "sg:person.01214645143.36",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01214645143.36"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "SIREDO Oncology Centre, Institut Curie, 75005, Paris, France",
"id": "http://www.grid.ac/institutes/grid.418596.7",
"name": [
"Inserm U830, \u00c9quipe Labellis\u00e9s LNCC, PSL Universit\u00e9, Institut Curie, 75005, Paris, France",
"SIREDO Oncology Centre, Institut Curie, 75005, Paris, France"
],
"type": "Organization"
},
"familyName": "Grossetete-Lalami",
"givenName": "Sandrine",
"id": "sg:person.0606045566.84",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0606045566.84"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Unit\u00e9 de G\u00e9n\u00e9tique Somatique, Institut Curie, Centre Hospitalier, 75005, Paris, France",
"id": "http://www.grid.ac/institutes/grid.418596.7",
"name": [
"SIREDO Oncology Centre, Institut Curie, 75005, Paris, France",
"Unit\u00e9 de G\u00e9n\u00e9tique Somatique, Institut Curie, Centre Hospitalier, 75005, Paris, France"
],
"type": "Organization"
},
"familyName": "Ballet",
"givenName": "Stelly",
"id": "sg:person.01104651123.97",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01104651123.97"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Unit\u00e9 de G\u00e9n\u00e9tique Somatique, Institut Curie, Centre Hospitalier, 75005, Paris, France",
"id": "http://www.grid.ac/institutes/grid.418596.7",
"name": [
"SIREDO Oncology Centre, Institut Curie, 75005, Paris, France",
"Unit\u00e9 de G\u00e9n\u00e9tique Somatique, Institut Curie, Centre Hospitalier, 75005, Paris, France"
],
"type": "Organization"
},
"familyName": "Lapouble",
"givenName": "Eve",
"id": "sg:person.0737441263.00",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0737441263.00"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "SIREDO Oncology Centre, Institut Curie, 75005, Paris, France",
"id": "http://www.grid.ac/institutes/grid.418596.7",
"name": [
"SIREDO Oncology Centre, Institut Curie, 75005, Paris, France"
],
"type": "Organization"
},
"familyName": "Laurence",
"givenName": "Val\u00e9rie",
"id": "sg:person.0701744216.68",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0701744216.68"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "SIREDO Oncology Centre, Institut Curie, 75005, Paris, France",
"id": "http://www.grid.ac/institutes/grid.418596.7",
"name": [
"SIREDO Oncology Centre, Institut Curie, 75005, Paris, France"
],
"type": "Organization"
},
"familyName": "Michon",
"givenName": "Jean",
"type": "Person"
},
{
"affiliation": {
"alternateName": "Unit\u00e9 de G\u00e9n\u00e9tique Somatique, Institut Curie, Centre Hospitalier, 75005, Paris, France",
"id": "http://www.grid.ac/institutes/grid.418596.7",
"name": [
"SIREDO Oncology Centre, Institut Curie, 75005, Paris, France",
"Unit\u00e9 de G\u00e9n\u00e9tique Somatique, Institut Curie, Centre Hospitalier, 75005, Paris, France"
],
"type": "Organization"
},
"familyName": "Pierron",
"givenName": "Gaelle",
"id": "sg:person.01226350537.84",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01226350537.84"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Children\u2019s Cancer Research Institute, St. Anna Kinderkrebsforschung, 1090, Vienna, Austria",
"id": "http://www.grid.ac/institutes/grid.416346.2",
"name": [
"Children\u2019s Cancer Research Institute, St. Anna Kinderkrebsforschung, 1090, Vienna, Austria"
],
"type": "Organization"
},
"familyName": "Kovar",
"givenName": "Heinrich",
"id": "sg:person.0741362200.35",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0741362200.35"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Oncology for Child and Adolescent, Institut Gustave Roussy, 94800, Villejuif, France",
"id": "http://www.grid.ac/institutes/grid.14925.3b",
"name": [
"Department of Oncology for Child and Adolescent, Institut Gustave Roussy, 94800, Villejuif, France"
],
"type": "Organization"
},
"familyName": "Gaspar",
"givenName": "Nathalie",
"id": "sg:person.01207346341.63",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01207346341.63"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Division of Pediatric Hematology Oncology and Stem Cell Transplantation, Medical Faculty, RWTH Aachen University, 52062, Aachen, Germany",
"id": "http://www.grid.ac/institutes/grid.1957.a",
"name": [
"Division of Pediatric Hematology Oncology and Stem Cell Transplantation, Medical Faculty, RWTH Aachen University, 52062, Aachen, Germany"
],
"type": "Organization"
},
"familyName": "Kontny",
"givenName": "Udo",
"id": "sg:person.0662273707.63",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0662273707.63"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Human Genotyping Unit-CeGen, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, 28029, Madrid, Spain",
"id": "http://www.grid.ac/institutes/grid.7719.8",
"name": [
"Human Genotyping Unit-CeGen, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, 28029, Madrid, Spain"
],
"type": "Organization"
},
"familyName": "Gonz\u00e1lez-Neira",
"givenName": "Anna",
"id": "sg:person.0575521461.12",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0575521461.12"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Laboratorio di Oncologia Sperimentale, Istituto Ortopedico Rizzoli di Bologna, 40136, Bologna, Italy",
"id": "http://www.grid.ac/institutes/grid.419038.7",
"name": [
"Laboratorio di Oncologia Sperimentale, Istituto Ortopedico Rizzoli di Bologna, 40136, Bologna, Italy"
],
"type": "Organization"
},
"familyName": "Picci",
"givenName": "Piero",
"id": "sg:person.0753274552.44",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0753274552.44"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Unidad de Tumores S\u00f3lidos Infantiles, Instituto de Investigaci\u00f3n de Enfermedades Raras, Instituto de Salud Carlos III, 28220, Majadahonda, Spain",
"id": "http://www.grid.ac/institutes/grid.413448.e",
"name": [
"Unidad de Tumores S\u00f3lidos Infantiles, Instituto de Investigaci\u00f3n de Enfermedades Raras, Instituto de Salud Carlos III, 28220, Majadahonda, Spain"
],
"type": "Organization"
},
"familyName": "Alonso",
"givenName": "Javier",
"id": "sg:person.012571320022.50",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012571320022.50"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Laboratory of Pediatrics, University of Navarra, University Clinic of Navarra, IdiSNA, 31008, Pamplona, Spain",
"id": "http://www.grid.ac/institutes/grid.5924.a",
"name": [
"Laboratory of Pediatrics, University of Navarra, University Clinic of Navarra, IdiSNA, 31008, Pamplona, Spain"
],
"type": "Organization"
},
"familyName": "Patino-Garcia",
"givenName": "Ana",
"id": "sg:person.0777074274.43",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0777074274.43"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Institute for Paediatric Haematology and Oncology, Leon B\u00e9rard Cancer Centre, University of Lyon, 69008, Lyon, France",
"id": "http://www.grid.ac/institutes/grid.25697.3f",
"name": [
"Institute for Paediatric Haematology and Oncology, Leon B\u00e9rard Cancer Centre, University of Lyon, 69008, Lyon, France"
],
"type": "Organization"
},
"familyName": "Corradini",
"givenName": "Nad\u00e8ge",
"id": "sg:person.01117105715.78",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01117105715.78"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Institute for Paediatric Haematology and Oncology, Leon B\u00e9rard Cancer Centre, University of Lyon, 69008, Lyon, France",
"id": "http://www.grid.ac/institutes/grid.25697.3f",
"name": [
"Institute for Paediatric Haematology and Oncology, Leon B\u00e9rard Cancer Centre, University of Lyon, 69008, Lyon, France"
],
"type": "Organization"
},
"familyName": "B\u00e9rard",
"givenName": "Perrine Marec",
"id": "sg:person.01162003014.50",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01162003014.50"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Division of Cancer Epidemiology and Genetics, National Cancer Institute, 20892, Bethesda, MD, USA",
"id": "http://www.grid.ac/institutes/grid.48336.3a",
"name": [
"Division of Cancer Epidemiology and Genetics, National Cancer Institute, 20892, Bethesda, MD, USA"
],
"type": "Organization"
},
"familyName": "Freedman",
"givenName": "Neal D.",
"id": "sg:person.01114645561.56",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01114645561.56"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Division of Cancer Epidemiology and Genetics, National Cancer Institute, 20892, Bethesda, MD, USA",
"id": "http://www.grid.ac/institutes/grid.48336.3a",
"name": [
"Division of Cancer Epidemiology and Genetics, National Cancer Institute, 20892, Bethesda, MD, USA"
],
"type": "Organization"
},
"familyName": "Rothman",
"givenName": "Nathaniel",
"id": "sg:person.014423762617.76",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014423762617.76"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Cancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research, Leidos Biomedical Research Inc, 21701, Frederick, MD, USA",
"id": "http://www.grid.ac/institutes/grid.418021.e",
"name": [
"Division of Cancer Epidemiology and Genetics, National Cancer Institute, 20892, Bethesda, MD, USA",
"Cancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research, Leidos Biomedical Research Inc, 21701, Frederick, MD, USA"
],
"type": "Organization"
},
"familyName": "Dagnall",
"givenName": "Casey L.",
"id": "sg:person.014761324375.36",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014761324375.36"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Cancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research, Leidos Biomedical Research Inc, 21701, Frederick, MD, USA",
"id": "http://www.grid.ac/institutes/grid.418021.e",
"name": [
"Division of Cancer Epidemiology and Genetics, National Cancer Institute, 20892, Bethesda, MD, USA",
"Cancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research, Leidos Biomedical Research Inc, 21701, Frederick, MD, USA"
],
"type": "Organization"
},
"familyName": "Burdett",
"givenName": "Laurie",
"id": "sg:person.012630432447.38",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012630432447.38"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Cancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research, Leidos Biomedical Research Inc, 21701, Frederick, MD, USA",
"id": "http://www.grid.ac/institutes/grid.418021.e",
"name": [
"Division of Cancer Epidemiology and Genetics, National Cancer Institute, 20892, Bethesda, MD, USA",
"Cancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research, Leidos Biomedical Research Inc, 21701, Frederick, MD, USA"
],
"type": "Organization"
},
"familyName": "Jones",
"givenName": "Kristine",
"id": "sg:person.01143350525.99",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01143350525.99"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Cancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research, Leidos Biomedical Research Inc, 21701, Frederick, MD, USA",
"id": "http://www.grid.ac/institutes/grid.418021.e",
"name": [
"Division of Cancer Epidemiology and Genetics, National Cancer Institute, 20892, Bethesda, MD, USA",
"Cancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research, Leidos Biomedical Research Inc, 21701, Frederick, MD, USA"
],
"type": "Organization"
},
"familyName": "Manning",
"givenName": "Michelle",
"id": "sg:person.013611574350.81",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013611574350.81"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Cancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research, Leidos Biomedical Research Inc, 21701, Frederick, MD, USA",
"id": "http://www.grid.ac/institutes/grid.418021.e",
"name": [
"Division of Cancer Epidemiology and Genetics, National Cancer Institute, 20892, Bethesda, MD, USA",
"Cancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research, Leidos Biomedical Research Inc, 21701, Frederick, MD, USA"
],
"type": "Organization"
},
"familyName": "Wyatt",
"givenName": "Kathleen",
"id": "sg:person.014407154750.48",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014407154750.48"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Cancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research, Leidos Biomedical Research Inc, 21701, Frederick, MD, USA",
"id": "http://www.grid.ac/institutes/grid.418021.e",
"name": [
"Division of Cancer Epidemiology and Genetics, National Cancer Institute, 20892, Bethesda, MD, USA",
"Cancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research, Leidos Biomedical Research Inc, 21701, Frederick, MD, USA"
],
"type": "Organization"
},
"familyName": "Zhou",
"givenName": "Weiyin",
"id": "sg:person.0656377023.84",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0656377023.84"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Cancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research, Leidos Biomedical Research Inc, 21701, Frederick, MD, USA",
"id": "http://www.grid.ac/institutes/grid.418021.e",
"name": [
"Division of Cancer Epidemiology and Genetics, National Cancer Institute, 20892, Bethesda, MD, USA",
"Cancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research, Leidos Biomedical Research Inc, 21701, Frederick, MD, USA"
],
"type": "Organization"
},
"familyName": "Yeager",
"givenName": "Meredith",
"id": "sg:person.0776155425.71",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0776155425.71"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Centre L\u00e9on B\u00e9rard, INSERM U1052, 69008, Lyon, France",
"id": "http://www.grid.ac/institutes/grid.418116.b",
"name": [
"Centre L\u00e9on B\u00e9rard, INSERM U1052, 69008, Lyon, France"
],
"type": "Organization"
},
"familyName": "Cox",
"givenName": "David G.",
"id": "sg:person.0664464421.58",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0664464421.58"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Division of Cancer Epidemiology and Genetics, National Cancer Institute, 20892, Bethesda, MD, USA",
"id": "http://www.grid.ac/institutes/grid.48336.3a",
"name": [
"Division of Cancer Epidemiology and Genetics, National Cancer Institute, 20892, Bethesda, MD, USA"
],
"type": "Organization"
},
"familyName": "Hoover",
"givenName": "Robert N.",
"type": "Person"
},
{
"affiliation": {
"alternateName": "Genetics Branch, Center for Cancer Research, National Cancer Institute, 20892, Bethesda, MD, USA",
"id": "http://www.grid.ac/institutes/grid.417768.b",
"name": [
"Genetics Branch, Center for Cancer Research, National Cancer Institute, 20892, Bethesda, MD, USA"
],
"type": "Organization"
},
"familyName": "Khan",
"givenName": "Javed",
"id": "sg:person.01100245540.51",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01100245540.51"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Epidemiology and Cancer Control, St. Jude Children\u2019s Research Hospital, 38105, Memphis, TN, USA",
"id": "http://www.grid.ac/institutes/grid.240871.8",
"name": [
"Department of Epidemiology and Cancer Control, St. Jude Children\u2019s Research Hospital, 38105, Memphis, TN, USA"
],
"type": "Organization"
},
"familyName": "Armstrong",
"givenName": "Gregory T.",
"id": "sg:person.010233572037.78",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010233572037.78"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Cancer Prevention and Clinical Statistics Programs, Fred Hutchinson Cancer Research Center, 98109, Seattle, WA, USA",
"id": "http://www.grid.ac/institutes/grid.270240.3",
"name": [
"Cancer Prevention and Clinical Statistics Programs, Fred Hutchinson Cancer Research Center, 98109, Seattle, WA, USA"
],
"type": "Organization"
},
"familyName": "Leisenring",
"givenName": "Wendy M.",
"id": "sg:person.011357062217.85",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011357062217.85"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Institute for Cancer Outcomes and Survivorship, University of Alabama, 35294, Birmingham, AL, USA",
"id": "http://www.grid.ac/institutes/grid.265892.2",
"name": [
"Institute for Cancer Outcomes and Survivorship, University of Alabama, 35294, Birmingham, AL, USA"
],
"type": "Organization"
},
"familyName": "Bhatia",
"givenName": "Smita",
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Epidemiology and Cancer Control, St. Jude Children\u2019s Research Hospital, 38105, Memphis, TN, USA",
"id": "http://www.grid.ac/institutes/grid.240871.8",
"name": [
"Department of Epidemiology and Cancer Control, St. Jude Children\u2019s Research Hospital, 38105, Memphis, TN, USA"
],
"type": "Organization"
},
"familyName": "Robison",
"givenName": "Leslie L.",
"id": "sg:person.015342265037.04",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015342265037.04"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "University Children\u2019s Hospital of Heidelberg, 69120, Heidelberg, Germany",
"id": "http://www.grid.ac/institutes/grid.5253.1",
"name": [
"University Children\u2019s Hospital of Heidelberg, 69120, Heidelberg, Germany"
],
"type": "Organization"
},
"familyName": "Kulozik",
"givenName": "Andreas E.",
"id": "sg:person.01022515007.00",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01022515007.00"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "German Center for Diabetes Research (DZD), 85764, M\u00fcnchen-Neuherberg, Germany",
"id": "http://www.grid.ac/institutes/grid.452622.5",
"name": [
"Research Unit of Molecular Epidemiology, Helmholtz Zentrum M\u00fcnchen, German Research Center for Environmental Health, 85764, Neuherberg, Germany",
"Institute of Epidemiology, Helmholtz Zentrum M\u00fcnchen, German Research Center for Environmental Health, 85764, Neuherberg, Germany",
"German Center for Diabetes Research (DZD), 85764, M\u00fcnchen-Neuherberg, Germany"
],
"type": "Organization"
},
"familyName": "Kriebel",
"givenName": "Jennifer",
"id": "sg:person.01047153214.68",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01047153214.68"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Institute of Human Genetics, Technische Universit\u00e4t M\u00fcnchen, 80333, Munich, Germany",
"id": "http://www.grid.ac/institutes/grid.6936.a",
"name": [
"Institute of Human Genetics, Helmholtz Zentrum M\u00fcnchen, German Research Center for Environmental Health, 85764, Neuherberg, Germany",
"Institute of Human Genetics, Technische Universit\u00e4t M\u00fcnchen, 80333, Munich, Germany"
],
"type": "Organization"
},
"familyName": "Meitinger",
"givenName": "Thomas",
"id": "sg:person.015725517277.33",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015725517277.33"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "University Children\u2019s Hospital of Erlangen, 91054, Erlangen, Germany",
"id": "http://www.grid.ac/institutes/None",
"name": [
"University Children\u2019s Hospital of Erlangen, 91054, Erlangen, Germany"
],
"type": "Organization"
},
"familyName": "Metzler",
"givenName": "Markus",
"id": "sg:person.01124566340.63",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01124566340.63"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Gerhard-Domagk Institute of Pathology, University Hospital of M\u00fcnster, 48149, M\u00fcnster, Germany",
"id": "http://www.grid.ac/institutes/grid.16149.3b",
"name": [
"Gerhard-Domagk Institute of Pathology, University Hospital of M\u00fcnster, 48149, M\u00fcnster, Germany"
],
"type": "Organization"
},
"familyName": "Hartmann",
"givenName": "Wolfgang",
"id": "sg:person.0635477125.06",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0635477125.06"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Chair of Genetic Epidemiology, IBE, Faculty of Medicine, LMU, 80539, Munich, Germany",
"id": "http://www.grid.ac/institutes/grid.5252.0",
"name": [
"Institute of Genetic Epidemiology, Helmholtz Zentrum M\u00fcnchen, German Research Center for Environmental Health, 85764, Neuherberg, Germany",
"Chair of Genetic Epidemiology, IBE, Faculty of Medicine, LMU, 80539, Munich, Germany"
],
"type": "Organization"
},
"familyName": "Strauch",
"givenName": "Konstantin",
"id": "sg:person.01352171051.53",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01352171051.53"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Institute of Pathology, Faculty of Medicine, LMU, 80337, Munich, Germany",
"id": "http://www.grid.ac/institutes/grid.5252.0",
"name": [
"German Consortium for Cancer Research (DKTK), 69120, Heidelberg, Germany",
"German Cancer Research Center (DKFZ), 69120, Heidelberg, Germany",
"Institute of Pathology, Faculty of Medicine, LMU, 80337, Munich, Germany"
],
"type": "Organization"
},
"familyName": "Kirchner",
"givenName": "Thomas",
"id": "sg:person.0650074000.01",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0650074000.01"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "University Children\u2019s Hospital of Essen, 45147, Essen, Germany",
"id": "http://www.grid.ac/institutes/None",
"name": [
"University Children\u2019s Hospital of Essen, 45147, Essen, Germany"
],
"type": "Organization"
},
"familyName": "Dirksen",
"givenName": "Uta",
"id": "sg:person.0744212622.31",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0744212622.31"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Division of Cancer Epidemiology and Genetics, National Cancer Institute, 20892, Bethesda, MD, USA",
"id": "http://www.grid.ac/institutes/grid.48336.3a",
"name": [
"Division of Cancer Epidemiology and Genetics, National Cancer Institute, 20892, Bethesda, MD, USA"
],
"type": "Organization"
},
"familyName": "Morton",
"givenName": "Lindsay M.",
"id": "sg:person.01314054407.11",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01314054407.11"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Division of Cancer Epidemiology and Genetics, National Cancer Institute, 20892, Bethesda, MD, USA",
"id": "http://www.grid.ac/institutes/grid.48336.3a",
"name": [
"Division of Cancer Epidemiology and Genetics, National Cancer Institute, 20892, Bethesda, MD, USA"
],
"type": "Organization"
},
"familyName": "Mirabello",
"givenName": "Lisa",
"id": "sg:person.01304211034.26",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01304211034.26"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Division of Cancer Epidemiology and Genetics, National Cancer Institute, 20892, Bethesda, MD, USA",
"id": "http://www.grid.ac/institutes/grid.48336.3a",
"name": [
"Division of Cancer Epidemiology and Genetics, National Cancer Institute, 20892, Bethesda, MD, USA"
],
"type": "Organization"
},
"familyName": "Tucker",
"givenName": "Margaret A.",
"type": "Person"
},
{
"affiliation": {
"alternateName": "SIREDO Oncology Centre, Institut Curie, 75005, Paris, France",
"id": "http://www.grid.ac/institutes/grid.418596.7",
"name": [
"Inserm U830, \u00c9quipe Labellis\u00e9s LNCC, PSL Universit\u00e9, Institut Curie, 75005, Paris, France",
"SIREDO Oncology Centre, Institut Curie, 75005, Paris, France"
],
"type": "Organization"
},
"familyName": "Tirode",
"givenName": "Franck",
"id": "sg:person.01235344657.93",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01235344657.93"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Division of Cancer Epidemiology and Genetics, National Cancer Institute, 20892, Bethesda, MD, USA",
"id": "http://www.grid.ac/institutes/grid.48336.3a",
"name": [
"Division of Cancer Epidemiology and Genetics, National Cancer Institute, 20892, Bethesda, MD, USA"
],
"type": "Organization"
},
"familyName": "Chanock",
"givenName": "Stephen J.",
"id": "sg:person.010403073577.20",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010403073577.20"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "SIREDO Oncology Centre, Institut Curie, 75005, Paris, France",
"id": "http://www.grid.ac/institutes/grid.418596.7",
"name": [
"Inserm U830, \u00c9quipe Labellis\u00e9s LNCC, PSL Universit\u00e9, Institut Curie, 75005, Paris, France",
"SIREDO Oncology Centre, Institut Curie, 75005, Paris, France"
],
"type": "Organization"
},
"familyName": "Delattre",
"givenName": "Olivier",
"id": "sg:person.01346440237.46",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01346440237.46"
],
"type": "Person"
}
],
"citation": [
{
"id": "sg:pub.10.1038/nmeth.1923",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1006541515",
"https://doi.org/10.1038/nmeth.1923"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1186/gb-2008-9-9-r137",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1027608848",
"https://doi.org/10.1186/gb-2008-9-9-r137"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/ng.2653",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1032444369",
"https://doi.org/10.1038/ng.2653"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/nmeth.1785",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1002640757",
"https://doi.org/10.1038/nmeth.1785"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/ng.3363",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1033290656",
"https://doi.org/10.1038/ng.3363"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/nature12981",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1034371978",
"https://doi.org/10.1038/nature12981"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/nature15393",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1021812064",
"https://doi.org/10.1038/nature15393"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/onc.2010.205",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1050872467",
"https://doi.org/10.1038/onc.2010.205"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/ncomms9690",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1044267125",
"https://doi.org/10.1038/ncomms9690"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/359162a0",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1008302153",
"https://doi.org/10.1038/359162a0"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/ncomms14517",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1083820316",
"https://doi.org/10.1038/ncomms14517"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/978-1-59745-188-8_1",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1038274538",
"https://doi.org/10.1007/978-1-59745-188-8_1"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/ncb1474",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1000251163",
"https://doi.org/10.1038/ncb1474"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/ng.1085",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1025499740",
"https://doi.org/10.1038/ng.1085"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/sj.bjc.6603474",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1003635837",
"https://doi.org/10.1038/sj.bjc.6603474"
],
"type": "CreativeWork"
}
],
"datePublished": "2018-08-09",
"datePublishedReg": "2018-08-09",
"description": "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.",
"genre": "article",
"id": "sg:pub.10.1038/s41467-018-05537-2",
"inLanguage": "en",
"isAccessibleForFree": true,
"isFundedItemOf": [
{
"id": "sg:grant.2723986",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.2696267",
"type": "MonetaryGrant"
}
],
"isPartOf": [
{
"id": "sg:journal.1043282",
"issn": [
"2041-1723"
],
"name": "Nature Communications",
"publisher": "Springer Nature",
"type": "Periodical"
},
{
"issueNumber": "1",
"type": "PublicationIssue"
},
{
"type": "PublicationVolume",
"volumeNumber": "9"
}
],
"keywords": [
"new loci",
"expression quantitative trait loci (eQTL) analysis",
"quantitative trait locus (QTL) analysis",
"multiple new loci",
"wide association study",
"loci reside",
"genetic architecture",
"candidate genes",
"EWSR1-FLI1 fusion protein",
"locus analysis",
"NKX2-2",
"fusion protein",
"association studies",
"familial cancer syndrome",
"susceptibility loci",
"overexpressed genes",
"sarcoma susceptibility",
"risk SNPs",
"loci",
"European ancestry",
"genes",
"unaffected individuals",
"EWSR1-FLI1 fusion",
"cancer syndromes",
"GWAS",
"GGAA",
"SNPs",
"protein",
"significant fraction",
"ancestry",
"binding",
"sequence",
"EWS",
"resides",
"discovery ratio",
"pediatric cancer",
"fusion",
"high locus",
"susceptibility",
"cancer",
"study",
"rarity",
"light",
"individuals",
"analysis",
"fraction",
"excess",
"effect",
"architecture",
"ratio",
"syndrome",
"sarcoma",
"cases",
"risk",
"odds ratio"
],
"name": "Genome-wide association study identifies multiple new loci associated with Ewing sarcoma susceptibility",
"pagination": "3184",
"productId": [
{
"name": "dimensions_id",
"type": "PropertyValue",
"value": [
"pub.1105993569"
]
},
{
"name": "doi",
"type": "PropertyValue",
"value": [
"10.1038/s41467-018-05537-2"
]
},
{
"name": "pubmed_id",
"type": "PropertyValue",
"value": [
"30093639"
]
}
],
"sameAs": [
"https://doi.org/10.1038/s41467-018-05537-2",
"https://app.dimensions.ai/details/publication/pub.1105993569"
],
"sdDataset": "articles",
"sdDatePublished": "2022-05-20T07:33",
"sdLicense": "https://scigraph.springernature.com/explorer/license/",
"sdPublisher": {
"name": "Springer Nature - SN SciGraph project",
"type": "Organization"
},
"sdSource": "s3://com-springernature-scigraph/baseset/20220519/entities/gbq_results/article/article_773.jsonl",
"type": "ScholarlyArticle",
"url": "https://doi.org/10.1038/s41467-018-05537-2"
}
]
Download the RDF metadata as: json-ld nt turtle xml License info
JSON-LD is a popular format for linked data which is fully compatible with JSON.
curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1038/s41467-018-05537-2'
N-Triples is a line-based linked data format ideal for batch operations.
curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1038/s41467-018-05537-2'
Turtle is a human-readable linked data format.
curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/s41467-018-05537-2'
RDF/XML is a standard XML format for linked data.
curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/s41467-018-05537-2'
This table displays all metadata directly associated to this object as RDF triples.
728 TRIPLES
22 PREDICATES
122 URIs
97 LITERALS
31 BLANK NODES