{"id":"https://openalex.org/W1969345784","doi":"https://doi.org/10.1097/01.mpg.0000181990.99300.1a","title":"DOES GEOGRAPHIC VARIATION IN THE DISTRIBUTION OF APC GENE MUTATION ACCOUNT FOR PHENOTYPIC VARIATION IN FAMILIAL ADENOMATOUS POLYPOSIS?","display_name":"DOES GEOGRAPHIC VARIATION IN THE DISTRIBUTION OF APC GENE MUTATION ACCOUNT FOR PHENOTYPIC VARIATION IN FAMILIAL ADENOMATOUS POLYPOSIS?","publication_year":2005,"publication_date":"2005-10-01","ids":{"openalex":"https://openalex.org/W1969345784","doi":"https://doi.org/10.1097/01.mpg.0000181990.99300.1a","mag":"1969345784"},"language":"en","primary_location":{"id":"doi:10.1097/01.mpg.0000181990.99300.1a","doi":"https://doi.org/10.1097/01.mpg.0000181990.99300.1a","is_oa":false,"landing_page_url":"https://doi.org/10.1097/01.mpg.0000181990.99300.1a","pdf_url":null,"source":{"id":"https://openalex.org/S197964821","display_name":"Journal of Pediatric Gastroenterology and Nutrition","issn_l":"0277-2116","issn":["0277-2116","1536-4801"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","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 Pediatric Gastroenterology and Nutrition","raw_type":"journal-article"},"volume":null,"type":"article","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/A5033740812","display_name":"Rosemary J. Young","orcid":"https://orcid.org/0000-0001-7874-5529","observed_orcids":["https://orcid.org/0000-0001-7874-5529"]},"institutions":[{"id":"https://openalex.org/I59130452","display_name":"University of Nebraska Medical Center","ror":"https://ror.org/00thqtb16","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I59130452"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Rosemary J Young","raw_affiliation_strings":["Pediatrics, University of Nebraska Medical Center, Omaha, NE"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pediatrics, University of Nebraska Medical Center, Omaha, NE","institution_ids":["https://openalex.org/I59130452"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111461266","display_name":"Julie Ann Stoner","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I59130452","display_name":"University of Nebraska Medical Center","ror":"https://ror.org/00thqtb16","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I59130452"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Julie Stoner","raw_affiliation_strings":["Preventive and Societal Medicine, University of Nebraska Medical Center, Omaha, NE"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Preventive and Societal Medicine, University of Nebraska Medical Center, Omaha, NE","institution_ids":["https://openalex.org/I59130452"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111409806","display_name":"Henry T. Lynch","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I114493937","display_name":"Creighton University","ror":"https://ror.org/05wf30g94","country_code":"US","type":"education","lineage":["https://openalex.org/I114493937"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Henry T Lynch","raw_affiliation_strings":["Preventive Medicine, Creighton University, Omaha, NE"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Preventive Medicine, Creighton University, Omaha, NE","institution_ids":["https://openalex.org/I114493937"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5089269227","display_name":"Thomas Mario Attard","orcid":"https://orcid.org/0000-0002-7480-4437","observed_orcids":["https://orcid.org/0000-0002-7480-4437"]},"institutions":[{"id":"https://openalex.org/I114493937","display_name":"Creighton University","ror":"https://ror.org/05wf30g94","country_code":"US","type":"education","lineage":["https://openalex.org/I114493937"]},{"id":"https://openalex.org/I59130452","display_name":"University of Nebraska Medical Center","ror":"https://ror.org/00thqtb16","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I59130452"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Thomas M Attard","raw_affiliation_strings":["Pediatrics, University of Nebraska Medical Center, Omaha, NE","Preventive Medicine, Creighton University, Omaha, NE"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pediatrics, University of Nebraska Medical Center, Omaha, NE","institution_ids":["https://openalex.org/I59130452"]},{"raw_affiliation_string":"Preventive Medicine, Creighton University, Omaha, NE","institution_ids":["https://openalex.org/I114493937"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":3780,"currency":"USD","value_usd":3780},"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":1,"citation_normalized_percentile":{"value":0.10324063,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":93},"biblio":{"volume":"41","issue":"4","first_page":"534","last_page":"535"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11369","display_name":"Genetic factors in colorectal cancer","score":1.0,"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"}},"topics":[{"id":"https://openalex.org/T11369","display_name":"Genetic factors in colorectal cancer","score":1.0,"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/T11067","display_name":"Colorectal Cancer Treatments and 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"}},{"id":"https://openalex.org/T10552","display_name":"Colorectal Cancer Screening and Detection","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/familial-adenomatous-polyposis","display_name":"familial adenomatous polyposis","score":0.9990000128746033},{"id":"https://openalex.org/keywords/apc-mutation","display_name":"APC mutation","score":0.8880000114440918},{"id":"https://openalex.org/keywords/regional-variation","display_name":"regional variation","score":0.9039999842643738},{"id":"https://openalex.org/keywords/upper-gastrointestinal-tract-involvement","display_name":"upper gastrointestinal tract involvement","score":0.6380000114440918},{"id":"https://openalex.org/keywords/hereditary-colorectal-cancer","display_name":"hereditary colorectal cancer","score":0.722000002861023}],"concepts":[{"id":"https://openalex.org/C2780814781","wikidata":"https://www.wikidata.org/wiki/Q1369011","display_name":"Familial adenomatous polyposis","level":4,"score":0.8343859910964966},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6980235576629639},{"id":"https://openalex.org/C2778237340","wikidata":"https://www.wikidata.org/wiki/Q14883378","display_name":"Adenomatous polyposis coli","level":4,"score":0.649312436580658},{"id":"https://openalex.org/C61511704","wikidata":"https://www.wikidata.org/wiki/Q1671857","display_name":"Incidence (geometry)","level":2,"score":0.6470538973808289},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5973697900772095},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.4623246490955353},{"id":"https://openalex.org/C195054827","wikidata":"https://www.wikidata.org/wiki/Q504568","display_name":"Founder effect","level":5,"score":0.4283655881881714},{"id":"https://openalex.org/C2994225774","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Gene mutation","level":4,"score":0.419533908367157},{"id":"https://openalex.org/C149923435","wikidata":"https://www.wikidata.org/wiki/Q37732","display_name":"Demography","level":1,"score":0.39388808608055115},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.3807605504989624},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.37362226843833923},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.29081010818481445},{"id":"https://openalex.org/C526805850","wikidata":"https://www.wikidata.org/wiki/Q188874","display_name":"Colorectal cancer","level":3,"score":0.25692886114120483},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.2554733455181122},{"id":"https://openalex.org/C121608353","wikidata":"https://www.wikidata.org/wiki/Q12078","display_name":"Cancer","level":2,"score":0.22544243931770325},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.15558183193206787},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.07252034544944763},{"id":"https://openalex.org/C121332964","wikidata":"https://www.wikidata.org/wiki/Q413","display_name":"Physics","level":0,"score":0.0},{"id":"https://openalex.org/C144024400","wikidata":"https://www.wikidata.org/wiki/Q21201","display_name":"Sociology","level":0,"score":0.0},{"id":"https://openalex.org/C197754878","wikidata":"https://www.wikidata.org/wiki/Q80711","display_name":"Haplotype","level":4,"score":0.0},{"id":"https://openalex.org/C120665830","wikidata":"https://www.wikidata.org/wiki/Q14620","display_name":"Optics","level":1,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1097/01.mpg.0000181990.99300.1a","doi":"https://doi.org/10.1097/01.mpg.0000181990.99300.1a","is_oa":false,"landing_page_url":"https://doi.org/10.1097/01.mpg.0000181990.99300.1a","pdf_url":null,"source":{"id":"https://openalex.org/S197964821","display_name":"Journal of Pediatric Gastroenterology and Nutrition","issn_l":"0277-2116","issn":["0277-2116","1536-4801"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","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 Pediatric Gastroenterology and Nutrition","raw_type":"journal-article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9940000176429749,"display_name":"Good health and well-being","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/W2013115924","https://openalex.org/W4413435031","https://openalex.org/W67614382","https://openalex.org/W7097281407","https://openalex.org/W2127286852","https://openalex.org/W2359092809","https://openalex.org/W2944620700","https://openalex.org/W7214875307","https://openalex.org/W2616233998","https://openalex.org/W2132015009"],"abstract_inverted_index":{"Background:":[0],"Familial":[1],"Adenomatous":[2],"Polyposis":[3],"(FAP)":[4],"has":[5],"an":[6],"incidence":[7,244],"of":[8,28,32,39,103,143,200,211,234,245],"1":[9,213],"in":[10,22,53,57,82,113,141,155,197,204,220,236,250],"8,000.":[11],"Children":[12],"may":[13,228],"present":[14],"with":[15,59,85,108,206],"FAP":[16,33,60,86,115,235],"related":[17],"intestinal":[18],"and":[19,25,42,65,99,160,171,177,185,226],"extraintestinal":[20],"complications":[21],"the":[23,37,43,50,75,92,109,118,137,186,198,208,230,237,241],"first":[24],"second":[26],"decade":[27],"life.":[29],"Clinical":[30],"manifestations":[31],"vary":[34],"depending":[35],"on":[36],"pattern":[38,199],"gene":[40],"mutation":[41,55,111,202,214,219],"population":[44],"being":[45],"described.":[46],"Herein":[47],"we":[48],"investigate":[49],"geographic":[51],"differences":[52,135,154,168,182,196],"APC":[54,76,110,201],"distribution":[56,112,157],"patients":[58,84,116,205],"across":[61,136],"Europe,":[62],"North":[63,172,221],"America":[64,173,222],"Asia.":[66],"Methods:":[67],"15":[68],"publications":[69],"(12":[70],"European,":[71],"3":[72,138,218],"Asian)":[73],"describing":[74],"mutations":[77,93],"detected":[78,203],"by":[79,96,101,128],"polyposis":[80],"registries":[81],"471":[83],"from":[87,117],"122":[88],"families":[89],"were":[90,94,106,133],"included;":[91],"categorized":[95],"segmental":[97],"involvement":[98,249],"classified":[100],"country/continent":[102],"origin.":[104],"These":[105],"compared":[107,215,223],"392":[114],"United":[119,187,238],"States":[120,188,239],"diagnosed":[121],"between":[122,158,169,183],"1991-2002":[123],"though":[124],"testing":[125],"(PCR,":[126],"PGGE)":[127],"Labcorp":[129],"Corporation.":[130],"Results:":[131],"There":[132,193],"significant":[134,153,167,181],"geographical":[139],"areas":[140],"terms":[142],"location":[144,156],"mutation,":[145],"Pair-wise":[146],"comparisons":[147],"suggest":[148],"that":[149],"there":[150,165,178],"are":[151,166,179,194],"no":[152],"Europe":[159,170,227],"Asia":[161,184,225],"(p":[162,174,189],"=":[163,175,190],"0.12),":[164],"0.004),":[176],"marginally":[180],"0.03).":[191],"Conclusions:":[192],"regional":[195],"FAP;":[207],"increased":[209,243],"frequency":[210],"segment":[212,217],"to":[216,224],"explain":[229],"observed":[231],"clinical":[232],"features":[233],"including":[240],"relatively":[242],"upper":[246],"gastrointestinal":[247],"tract":[248],"Asian":[251],"patients.":[252]},"counts_by_year":[{"year":2021,"cited_by_count":1}],"updated_date":"2026-10-30T12:39:25.321706","created_date":"2016-06-24T00:00:00"}