{"id":"https://openalex.org/W15053397","doi":"https://doi.org/10.1177/030089160308900304","title":"Screening E-Cadherin Germline Mutations in Italian Patients with Familial Diffuse Gastric Cancer: An Analysis in the District of Urbino, Region Marche, Central Italy","display_name":"Screening E-Cadherin Germline Mutations in Italian Patients with Familial Diffuse Gastric Cancer: An Analysis in the District of Urbino, Region Marche, Central Italy","publication_year":2003,"publication_date":"2003-05-01","ids":{"openalex":"https://openalex.org/W15053397","doi":"https://doi.org/10.1177/030089160308900304","mag":"15053397","pmid":"https://pubmed.ncbi.nlm.nih.gov/12903611"},"language":"it","primary_location":{"id":"doi:10.1177/030089160308900304","doi":"https://doi.org/10.1177/030089160308900304","is_oa":false,"landing_page_url":"https://doi.org/10.1177/030089160308900304","pdf_url":null,"source":{"id":"https://openalex.org/S4210189328","display_name":"Tumori Journal","issn_l":"0300-8916","issn":["0300-8916","2038-2529"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","jufo-1","ki-jl-1","medline","norway-1","poland-40","russia-white-list-3"],"host_organization":"https://openalex.org/P4310320017","host_organization_name":"SAGE Publishing","host_organization_lineage":["https://openalex.org/P4310320017"],"host_organization_lineage_names":["SAGE Publishing"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Tumori Journal","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"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/A5018141422","display_name":"Francesco Graziano","orcid":"https://orcid.org/0000-0002-4896-1842","observed_orcids":["https://orcid.org/0000-0002-4896-1842","https://orcid.org/0009-0003-5750-0559"]},"institutions":[{"id":"https://openalex.org/I190397597","display_name":"University of Urbino","ror":"https://ror.org/04q4kt073","country_code":"IT","type":"education","lineage":["https://openalex.org/I190397597"]}],"countries":["IT"],"is_corresponding":true,"raw_author_name":"Francesco Graziano","raw_affiliation_strings":["Medical Oncology Unit, Hospital of Urbino;","Medical Oncology Unit, Hospital of Urbino, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Medical Oncology Unit, Hospital of Urbino;","institution_ids":["https://openalex.org/I190397597"]},{"raw_affiliation_string":"Medical Oncology Unit, Hospital of Urbino, Italy","institution_ids":["https://openalex.org/I190397597"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111918367","display_name":"Annamaria Ruzzo","orcid":"https://orcid.org/0000-0003-2815-1890","observed_orcids":["https://orcid.org/0000-0003-2815-1890"]},"institutions":[{"id":"https://openalex.org/I190397597","display_name":"University of Urbino","ror":"https://ror.org/04q4kt073","country_code":"IT","type":"education","lineage":["https://openalex.org/I190397597"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Anna Maria Ruzzo","raw_affiliation_strings":["\u201cG Fornaini\u201d Institute of Biological Chemistry, University of Urbino, Urbino;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"\u201cG Fornaini\u201d Institute of Biological Chemistry, University of Urbino, Urbino;","institution_ids":["https://openalex.org/I190397597"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5086745354","display_name":"Italo Bearzi","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Italo Bearzi","raw_affiliation_strings":["Department of Histopathology, University of Ancona, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Histopathology, University of Ancona, Italy","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113573008","display_name":"Enrica Testa","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I190397597","display_name":"University of Urbino","ror":"https://ror.org/04q4kt073","country_code":"IT","type":"education","lineage":["https://openalex.org/I190397597"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Enrica Testa","raw_affiliation_strings":["Medical Oncology Unit, Hospital of Urbino;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Medical Oncology Unit, Hospital of Urbino;","institution_ids":["https://openalex.org/I190397597"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108454374","display_name":"Vittorio Lai","orcid":"https://orcid.org/0009-0008-4174-4619","observed_orcids":["https://orcid.org/0009-0008-4174-4619"]},"institutions":[{"id":"https://openalex.org/I190397597","display_name":"University of Urbino","ror":"https://ror.org/04q4kt073","country_code":"IT","type":"education","lineage":["https://openalex.org/I190397597"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Vittorio Lai","raw_affiliation_strings":["Medical Oncology Unit, Hospital of Urbino;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Medical Oncology Unit, Hospital of Urbino;","institution_ids":["https://openalex.org/I190397597"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5032278474","display_name":"Mauro Magnani","orcid":"https://orcid.org/0000-0001-6456-6626","observed_orcids":["https://orcid.org/0000-0001-6456-6626"]},"institutions":[{"id":"https://openalex.org/I190397597","display_name":"University of Urbino","ror":"https://ror.org/04q4kt073","country_code":"IT","type":"education","lineage":["https://openalex.org/I190397597"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Mauro Magnani","raw_affiliation_strings":["\u201cG Fornaini\u201d Institute of Biological Chemistry, University of Urbino, Urbino;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"\u201cG Fornaini\u201d Institute of Biological Chemistry, University of Urbino, Urbino;","institution_ids":["https://openalex.org/I190397597"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5018141422"],"corresponding_institution_ids":["https://openalex.org/I190397597"],"apc_list":{"value":4150,"currency":"USD","value_usd":4150},"apc_paid":null,"fwci":2.7007,"has_fulltext":false,"cited_by_count":20,"citation_normalized_percentile":{"value":0.89008464,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":94},"biblio":{"volume":"89","issue":"3","first_page":"255","last_page":"258"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10696","display_name":"Gastric Cancer Management and Outcomes","score":0.8812999725341797,"subfield":{"id":"https://openalex.org/subfields/2740","display_name":"Pulmonary and Respiratory 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/T10696","display_name":"Gastric Cancer Management and Outcomes","score":0.8812999725341797,"subfield":{"id":"https://openalex.org/subfields/2740","display_name":"Pulmonary and Respiratory 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/T11369","display_name":"Genetic factors in colorectal cancer","score":0.09629999846220016,"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/T10276","display_name":"Helicobacter pylori-related gastroenterology studies","score":0.011300000362098217,"subfield":{"id":"https://openalex.org/subfields/2746","display_name":"Surgery"},"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/hereditary-diffuse-gastric-cancer","display_name":"hereditary diffuse gastric cancer","score":0.9340000152587891},{"id":"https://openalex.org/keywords/e-cadherin","display_name":"E-cadherin","score":0.9190000295639038},{"id":"https://openalex.org/keywords/cdh1","display_name":"CDH1","score":0.8889999985694885},{"id":"https://openalex.org/keywords/germline-mutations","display_name":"germline mutations","score":0.9959999918937683},{"id":"https://openalex.org/keywords/truncating-variants","display_name":"truncating mutations","score":0.8849999904632568},{"id":"https://openalex.org/keywords/familial-aggregation","display_name":"familial aggregation","score":0.7590000033378601},{"id":"https://openalex.org/keywords/italian-patients","display_name":"Italian patients","score":0.7829999923706055},{"id":"https://openalex.org/keywords/cancer-susceptibility","display_name":"cancer susceptibility","score":0.5289999842643738}],"concepts":[{"id":"https://openalex.org/C2776391639","wikidata":"https://www.wikidata.org/wiki/Q17859787","display_name":"CDH1","level":4,"score":0.7574402093887329},{"id":"https://openalex.org/C121608353","wikidata":"https://www.wikidata.org/wiki/Q12078","display_name":"Cancer","level":2,"score":0.7178532481193542},{"id":"https://openalex.org/C13514818","wikidata":"https://www.wikidata.org/wiki/Q5552256","display_name":"Germline mutation","level":4,"score":0.6929520964622498},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6319175362586975},{"id":"https://openalex.org/C109825262","wikidata":"https://www.wikidata.org/wiki/Q1139164","display_name":"Germline","level":3,"score":0.5274401307106018},{"id":"https://openalex.org/C2779454504","wikidata":"https://www.wikidata.org/wiki/Q189588","display_name":"Stomach cancer","level":3,"score":0.4646678864955902},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.4452388286590576},{"id":"https://openalex.org/C143998085","wikidata":"https://www.wikidata.org/wiki/Q162555","display_name":"Oncology","level":1,"score":0.4302806258201599},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.42190513014793396},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.3769776523113251},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.36400118470191956},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.23071405291557312},{"id":"https://openalex.org/C149402561","wikidata":"https://www.wikidata.org/wiki/Q24776048","display_name":"Cadherin","level":3,"score":0.16288602352142334},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.1610579490661621},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.0},{"id":"https://openalex.org/C1491633281","wikidata":"https://www.wikidata.org/wiki/Q7868","display_name":"Cell","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D000310","descriptor_name":"Adrenal Gland Neoplasms","qualifier_ui":"Q000556","qualifier_name":"secondary","is_major_topic":false},{"descriptor_ui":"D000310","descriptor_name":"Adrenal Gland Neoplasms","qualifier_ui":"Q000601","qualifier_name":"surgery","is_major_topic":true},{"descriptor_ui":"D000315","descriptor_name":"Adrenalectomy","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000368","descriptor_name":"Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002277","descriptor_name":"Carcinoma","qualifier_ui":"Q000556","qualifier_name":"secondary","is_major_topic":false},{"descriptor_ui":"D002277","descriptor_name":"Carcinoma","qualifier_ui":"Q000601","qualifier_name":"surgery","is_major_topic":true},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005500","descriptor_name":"Follow-Up Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010535","descriptor_name":"Laparoscopy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D010673","descriptor_name":"Pheochromocytoma","qualifier_ui":"Q000601","qualifier_name":"surgery","is_major_topic":true},{"descriptor_ui":"D012189","descriptor_name":"Retrospective Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012449","descriptor_name":"Safety","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016896","descriptor_name":"Treatment Outcome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018572","descriptor_name":"Disease-Free Survival","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":5,"locations":[{"id":"doi:10.1177/030089160308900304","doi":"https://doi.org/10.1177/030089160308900304","is_oa":false,"landing_page_url":"https://doi.org/10.1177/030089160308900304","pdf_url":null,"source":{"id":"https://openalex.org/S4210189328","display_name":"Tumori Journal","issn_l":"0300-8916","issn":["0300-8916","2038-2529"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","jufo-1","ki-jl-1","medline","norway-1","poland-40","russia-white-list-3"],"host_organization":"https://openalex.org/P4310320017","host_organization_name":"SAGE Publishing","host_organization_lineage":["https://openalex.org/P4310320017"],"host_organization_lineage_names":["SAGE Publishing"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Tumori Journal","raw_type":"journal-article"},{"id":"pmid:12903611","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/12903611","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Tumori","raw_type":"Evaluation Study"},{"id":"pmid:12908778","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/12908778","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Tumori","raw_type":"Journal Article"},{"id":"pmh:oai:iris.univpm.it:11566/28796","doi":null,"is_oa":false,"landing_page_url":"http://hdl.handle.net/11566/28796","pdf_url":null,"source":{"id":"https://openalex.org/S4306402571","display_name":"Universit\u00e0 Politecnica delle Marche (Universit\u00e0 Politecnica delle Marche)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I122534668","host_organization_name":"Marche Polytechnic University","host_organization_lineage":["https://openalex.org/I122534668"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:ora.uniurb.it:11576/2725894","doi":null,"is_oa":false,"landing_page_url":"https://hdl.handle.net/11576/2725894","pdf_url":null,"source":{"id":"https://openalex.org/S4377196377","display_name":"CINECA IRIS Institutional Research information system (University of Urbino)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I190397597","host_organization_name":"University of Urbino","host_organization_lineage":["https://openalex.org/I190397597"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.98580002784729,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":21,"referenced_works":["https://openalex.org/W1557997264","https://openalex.org/W1609474046","https://openalex.org/W1651458958","https://openalex.org/W1905081637","https://openalex.org/W1966241991","https://openalex.org/W2017727880","https://openalex.org/W2050729751","https://openalex.org/W2055776760","https://openalex.org/W2068187102","https://openalex.org/W2076057085","https://openalex.org/W2088936376","https://openalex.org/W2091597180","https://openalex.org/W2095437663","https://openalex.org/W2108073931","https://openalex.org/W2122722300","https://openalex.org/W2132713652","https://openalex.org/W2141003214","https://openalex.org/W2155686060","https://openalex.org/W2156744556","https://openalex.org/W2169195868","https://openalex.org/W2338576041"],"related_works":["https://openalex.org/W2062650066","https://openalex.org/W2050729751","https://openalex.org/W2123354624","https://openalex.org/W94672872","https://openalex.org/W2027579160","https://openalex.org/W2592288423","https://openalex.org/W2589556951","https://openalex.org/W1972554090","https://openalex.org/W1979488027","https://openalex.org/W2052126154"],"abstract_inverted_index":{"AIMS":[0],"&":[1],"BACKGROUND:":[2],"Hereditary":[3],"diffuse":[4,36,96,106,161,184,216,260],"gastric":[5,37,64,97,107,162,185,217,261],"cancer":[6,11,38,65,98,108,218,262],"is":[7,66,75,247],"a":[8,154,236],"recently":[9],"defined":[10],"syndrome":[12],"caused":[13],"by":[14],"inactivating,":[15],"heterozygous":[16],"germline":[17,28,194,208],"mutations":[18,30,89,209,251],"in":[19,34,40,71,78,90,196,210,226,235,252],"the":[20,56,67,76,94,113,121,175,189,203,214,232],"E-cadherin":[21],"gene":[22],"(CDH1).":[23],"To":[24],"date,":[25],"16":[26],"truncating":[27],"CDH1":[29,88,131,150,206,253],"have":[31],"been":[32,50],"described":[33],"hereditary":[35,95,183,215],"families":[39],"different":[41],"ethnic":[42],"groups,":[43],"but":[44],"so":[45],"far,":[46],"no":[47],"investigation":[48],"has":[49],"addressed":[51],"to":[52,200,242,259],"Italian":[53,239],"patients.":[54],"In":[55,83,153],"District":[57],"of":[58,157,172,188,205,231,238],"Urbino,":[59],"Region":[60],"Marche,":[61],"Central":[62],"Italy,":[63],"most":[68],"common":[69],"tumor":[70],"men":[72],"and":[73,137,144,170],"it":[74],"second":[77],"women":[79],"after":[80],"breast":[81],"cancer.":[82,186],"this":[84],"area,":[85],"we":[86],"investigated":[87],"patients":[91,104,118,159,165,191,211,240],"who":[92,119,212],"fulfilled":[93],"criteria.":[99],"MATERIAL":[100],"AND":[101],"METHODS:":[102],"Consecutive":[103],"with":[105,160],"were":[109,128,147],"considered":[110],"eligible":[111],"for":[112,130,149,182],"study.":[114],"After":[115,133],"pedigree":[116],"analysis,":[117],"met":[120,174],"International":[122,176],"Gastric":[123,177],"Cancer":[124,178],"Linkage":[125,179],"Consortium":[126,180],"criteria":[127,181,219],"studied":[129],"mutations.":[132],"blood":[134],"samples":[135],"collection":[136],"DNA":[138],"extraction,":[139],"standard":[140],"polymerase":[141],"chain":[142],"reaction":[143],"sequencing":[145],"techniques":[146],"used":[148],"analysis.":[151],"RESULTS:":[152],"study":[155,234],"population":[156,237],"98":[158],"cancer,":[163],"11":[164],"(11%)":[166],"showed":[167,192],"familial":[168],"clustering":[169],"3":[171,190],"them":[173],"None":[187],"inactivating":[193,207],"mutation":[195],"CDH1.":[197],"CONCLUSIONS:":[198],"According":[199],"recent":[201],"studies,":[202],"frequency":[204],"fulfil":[213],"may":[220],"be":[221],"lower":[222],"than":[223],"that":[224,249],"reported":[225],"early":[227],"investigations.":[228],"The":[229],"results":[230],"present":[233],"seem":[241],"confirm":[243],"these":[244],"data.":[245],"It":[246],"likely":[248],"unidentified":[250],"or":[254],"other":[255],"involved":[256],"genes":[257],"contribute":[258],"susceptibility.":[263]},"counts_by_year":[{"year":2015,"cited_by_count":1},{"year":2012,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
