{"id":"https://openalex.org/W2285652903","doi":"https://doi.org/10.1200/jco.2011.29.15_suppl.10043","title":"Prevalence of hereditary GIST susceptibility in adults with GIST.","display_name":"Prevalence of hereditary GIST susceptibility in adults with GIST.","publication_year":2011,"publication_date":"2011-05-20","ids":{"openalex":"https://openalex.org/W2285652903","doi":"https://doi.org/10.1200/jco.2011.29.15_suppl.10043","mag":"2285652903"},"language":"en","primary_location":{"id":"doi:10.1200/jco.2011.29.15_suppl.10043","doi":"https://doi.org/10.1200/jco.2011.29.15_suppl.10043","is_oa":false,"landing_page_url":"https://doi.org/10.1200/jco.2011.29.15_suppl.10043","pdf_url":null,"source":{"id":"https://openalex.org/S15137598","display_name":"Journal of Clinical Oncology","issn_l":"0732-183X","issn":["0732-183X","1527-7755"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Clinical Oncology","raw_type":"journal-article"},"volume":null,"type":"conference-abstract","is_traditional":false,"indexed_in":["crossref"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5037376715","display_name":"Irene R. Rainville","orcid":"https://orcid.org/0000-0001-5865-3467","observed_orcids":["https://orcid.org/0000-0001-5865-3467"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"I. R. Rainville","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108626126","display_name":"Elizabeth J. Root","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"E. J. Root","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"M. Salerno","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"M. Salerno","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109151969","display_name":"Lisa M. DiGianni","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"L. DiGianni","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5005677700","display_name":"Douglas A. Nelson","orcid":"https://orcid.org/0000-0001-5717-8190","observed_orcids":["https://orcid.org/0000-0001-5717-8190"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"D. A. Nelson","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5026593581","display_name":"Christopher L. Corless","orcid":"https://orcid.org/0000-0003-4871-8364","observed_orcids":["https://orcid.org/0000-0003-4871-8364"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"C. L. Corless","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5091057405","display_name":"Michael Charles Heinrich","orcid":"https://orcid.org/0000-0003-3790-0478","observed_orcids":["https://orcid.org/0000-0003-3790-0478"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"M. C. Heinrich","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5038081327","display_name":"Mayo Robson","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"M. E. Robson","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5005206482","display_name":"Judy Ellen Garber","orcid":"https://orcid.org/0000-0001-9449-3982","observed_orcids":["https://orcid.org/0000-0001-9449-3982"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"J. E. Garber","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":"29","issue":"15_suppl","first_page":"10043","last_page":"10043"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11485","display_name":"Gastrointestinal Tumor Research and Treatment","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/2715","display_name":"Gastroenterology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T11485","display_name":"Gastrointestinal Tumor Research and Treatment","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/2715","display_name":"Gastroenterology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11369","display_name":"Genetic factors in colorectal cancer","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/2734","display_name":"Pathology and Forensic Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11991","display_name":"Soft tissue tumor case studies","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2730","display_name":"Oncology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/germline-mutations","display_name":"germline mutations","score":0.7310000061988831},{"id":"https://openalex.org/keywords/kit-mutations","display_name":"KIT mutations","score":0.8820000290870667},{"id":"https://openalex.org/keywords/pdgfra-mutation","display_name":"PDGFRA mutation","score":0.9179999828338623},{"id":"https://openalex.org/keywords/sdhb-mutation","display_name":"SDHB mutation","score":0.6759999990463257},{"id":"https://openalex.org/keywords/hereditary-cancer-susceptibility","display_name":"hereditary cancer predisposition","score":0.8140000104904175},{"id":"https://openalex.org/keywords/prevalence","display_name":"prevalence","score":0.39800000190734863},{"id":"https://openalex.org/keywords/paraganglioma","display_name":"paraganglioma","score":0.722000002861023},{"id":"https://openalex.org/keywords/pheochromocytoma","display_name":"pheochromocytoma","score":0.9520000219345093},{"id":"https://openalex.org/keywords/pediatric-gist","display_name":"pediatric GIST","score":0.6100000143051147}],"concepts":[{"id":"https://openalex.org/C2775922572","wikidata":"https://www.wikidata.org/wiki/Q83567","display_name":"GiST","level":3,"score":0.8880266547203064},{"id":"https://openalex.org/C37307934","wikidata":"https://www.wikidata.org/wiki/Q18030422","display_name":"PDGFRA","level":4,"score":0.8629140853881836},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6533656120300293},{"id":"https://openalex.org/C109825262","wikidata":"https://www.wikidata.org/wiki/Q1139164","display_name":"Germline","level":3,"score":0.5332536101341248},{"id":"https://openalex.org/C13514818","wikidata":"https://www.wikidata.org/wiki/Q5552256","display_name":"Germline mutation","level":4,"score":0.5263900756835938},{"id":"https://openalex.org/C121608353","wikidata":"https://www.wikidata.org/wiki/Q12078","display_name":"Cancer","level":2,"score":0.4527977406978607},{"id":"https://openalex.org/C143998085","wikidata":"https://www.wikidata.org/wiki/Q162555","display_name":"Oncology","level":1,"score":0.43624112010002136},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.3842948079109192},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3355353772640228},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.2524951100349426},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.19459789991378784},{"id":"https://openalex.org/C16930146","wikidata":"https://www.wikidata.org/wiki/Q4381253","display_name":"Stromal cell","level":2,"score":0.10215169191360474},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.10171234607696533}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1200/jco.2011.29.15_suppl.10043","doi":"https://doi.org/10.1200/jco.2011.29.15_suppl.10043","is_oa":false,"landing_page_url":"https://doi.org/10.1200/jco.2011.29.15_suppl.10043","pdf_url":null,"source":{"id":"https://openalex.org/S15137598","display_name":"Journal of Clinical Oncology","issn_l":"0732-183X","issn":["0732-183X","1527-7755"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Clinical Oncology","raw_type":"journal-article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":1.0,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2967426862","https://openalex.org/W1993182825","https://openalex.org/W2040381070","https://openalex.org/W4313389107","https://openalex.org/W1970094501","https://openalex.org/W2308064764","https://openalex.org/W2996668026","https://openalex.org/W4405648166","https://openalex.org/W2088704565","https://openalex.org/W2769565614"],"abstract_inverted_index":{"10043":[0],"Background:":[1],"GIST":[2,35,49,80,264,297,313,323,330],"is":[3,125,141,248,305],"the":[4,10,40,56,67,88,94,213,228,277,287,342],"most":[5],"common":[6,192],"mesenchymal":[7],"tumor":[8],"of":[9,34,39,55,69,121,179,188,206,230,235,263,279,286,290,301,312,318,329],"GI":[11],"tract,":[12],"associated":[13],"with":[14,25,48,78,260,269,295,322],"somatic":[15],"gain-of-function":[16],"mutations":[17,27,38,169,254],"in":[18,28,53,142,172,175,184,202,227,250,258,265,276,292,306,331],"KIT":[19,122,180,236,253,343],"and":[20,50,93,108,115,123,159,194,197,212,222,243,324],"less":[21],"often,":[22],"PDGFRA.":[23,176],"Families":[24],"inherited":[26,338],"KIT/PDGFRA":[29],"have":[30,151,163],"autosomal":[31],"dominant":[32],"transmission":[33],"predisposition.":[36],"Germline":[37,119,233,284],"succinate":[41],"dehydrogenase":[42],"complex":[43],"(SDH)":[44],"may":[45],"underlie":[46],"kindreds":[47],"paraganglioma,":[51],"particularly":[52],"GISTS":[54],"pediatric/wild-type":[57,296],"histology.":[58],"We":[59],"are":[60,81,104,282,334],"conducting":[61],"a":[62,99,145,191,315,326],"multicenter":[63],"study":[64],"to":[65,106,166,336,341],"ascertain":[66],"prevalence":[68],"hereditary":[70,310],"GIST.":[71],"Methods:":[72],"Individuals":[73,321],"\u2265":[74],"age":[75],"18":[76,247],"years":[77],"confirmed":[79],"recruited":[82],"through":[83],"sarcoma":[84],"specialty":[85],"clinics":[86],"at":[87,127],"Memorial":[89],"Sloan-Kettering":[90],"Cancer":[91,96],"Center":[92],"Dana-Farber":[95],"Institute,":[97],"or":[98,303,344],"web":[100],"recruitment":[101],"tool.":[102],"Participants":[103],"stratified":[105],"high-":[107],"low-hereditary":[109],"risk":[110],"groups":[111],"based":[112],"on":[113,133],"questionnaire":[114],"family":[116,261,289,299,327],"history":[117,262,300,328],"review.":[118],"analysis":[120,140,234,285],"PDGFRA":[124,244,345],"ongoing":[126],"Oregon":[128],"Health":[129],"&":[130],"Science":[131],"University":[132],"specimens":[134],"from":[135,156],"all":[136,319],"high-risk":[137,158],"subjects;":[138],"SDHX":[139],"process":[143],"for":[144],"subset.":[146],"Results:":[147],"Thus":[148],"far":[149],"we":[150],"enrolled":[152],"512":[153],"participants.":[154],"Specimens":[155],"92":[157],"41":[160],"low-risk":[161],"subjects":[162],"been":[164],"analyzed":[165],"date.":[167],"Eight":[168],"were":[170,199,216,255],"found":[171,183],"KIT,":[173],"zero":[174],"In-frame":[177],"deletion":[178],"D579":[181],"was":[182,225],"5":[185],"families,":[186,208],"two":[187],"which":[189],"report":[190],"ancestor,":[193],"W557R,":[195,215],"K642E,":[196,224],"K509I":[198],"identified":[200,256,272],"each":[201],"one":[203,209],"family.":[204],"Two":[205,267],"these":[207],"segregating":[210],"D579del":[211],"second":[214],"reported":[217,226],"previously":[218],"by":[219,273],"other":[220,274,332],"groups,":[221],"one,":[223],"course":[229,278],"this":[231,280],"study.":[232],"exons":[237],"8,":[238],"9,":[239],"11,":[240],"13,":[241],"17":[242],"12,":[245],"14,":[246],"negative":[249],"four":[251],"families.":[252],"only":[257],"individuals":[259,268,294],"relatives.":[266],"SDHB":[270],"mutations,":[271],"investigators":[275],"study,":[281],"included.":[283],"SDH":[288],"genes":[291],"five":[293],"and/or":[298],"pheochromocytoma":[302],"paraganglioma":[304],"progress.":[307],"Conclusions:":[308],"The":[309],"form":[311],"constitutes":[314],"small":[316],"fraction":[317],"GISTs.":[320],"without":[325],"relatives":[333],"unlikely":[335],"carry":[337],"susceptibility":[339],"linked":[340],"protooncogenes.":[346]},"counts_by_year":[],"updated_date":"2026-10-14T16:39:01.820549","created_date":"2016-06-24T00:00:00"}