{"id":"https://openalex.org/W1963802150","doi":"https://doi.org/10.1001/jama.282.3.247","title":"Interpretation of Genetic Test Results for Hereditary Nonpolyposis Colorectal Cancer","display_name":"Interpretation of Genetic Test Results for Hereditary Nonpolyposis Colorectal Cancer","publication_year":1999,"publication_date":"1999-07-21","ids":{"openalex":"https://openalex.org/W1963802150","doi":"https://doi.org/10.1001/jama.282.3.247","mag":"1963802150","pmid":"https://pubmed.ncbi.nlm.nih.gov/10422993"},"language":"en","primary_location":{"id":"doi:10.1001/jama.282.3.247","doi":"https://doi.org/10.1001/jama.282.3.247","is_oa":false,"landing_page_url":"https://doi.org/10.1001/jama.282.3.247","pdf_url":null,"source":{"id":"https://openalex.org/S172573765","display_name":"JAMA","issn_l":"0002-9955","issn":["0002-9955","0098-7484","1538-3598","2376-8118"],"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/P4310320259","host_organization_name":"American Medical Association","host_organization_lineage":["https://openalex.org/P4310320259"],"host_organization_lineage_names":["American Medical Association"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"JAMA","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/A5079620607","display_name":"Sapna Syngal","orcid":"https://orcid.org/0000-0001-5487-7471","observed_orcids":["https://orcid.org/0000-0001-5487-7471"]},"institutions":[{"id":"https://openalex.org/I1283280774","display_name":"Brigham and Women's Hospital","ror":"https://ror.org/04b6nzv94","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I121934306","https://openalex.org/I1283280774","https://openalex.org/I48633490"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]},{"id":"https://openalex.org/I4210117453","display_name":"Dana-Farber Cancer Institute","ror":"https://ror.org/02jzgtq86","country_code":"US","type":"facility","lineage":["https://openalex.org/I4210117453"]},{"id":"https://openalex.org/I4210161994","display_name":"Dana-Farber Brigham Cancer Center","ror":"https://ror.org/05rgrbr06","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I121934306","https://openalex.org/I1283280774","https://openalex.org/I4210117453","https://openalex.org/I4210161994","https://openalex.org/I48633490"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Sapna Syngal","raw_affiliation_strings":["Brigham and Women's Hospital, Department of Population Sciences, Dana-Farber Cancer Institute and Harvard Medical School, Boston, Mass 02115, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Brigham and Women's Hospital, Department of Population Sciences, Dana-Farber Cancer Institute and Harvard Medical School, Boston, Mass 02115, USA","institution_ids":["https://openalex.org/I1283280774","https://openalex.org/I136199984","https://openalex.org/I4210117453","https://openalex.org/I4210161994"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5106083058","display_name":"Edward A. Fox","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210117453","display_name":"Dana-Farber Cancer Institute","ror":"https://ror.org/02jzgtq86","country_code":"US","type":"facility","lineage":["https://openalex.org/I4210117453"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Edward A. Fox","raw_affiliation_strings":["Dana Farber Cancer Institute"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Dana Farber Cancer Institute","institution_ids":["https://openalex.org/I4210117453"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5091623272","display_name":"Christine Li","orcid":"https://orcid.org/0000-0001-7613-0694","observed_orcids":["https://orcid.org/0000-0001-7613-0694"]},"institutions":[{"id":"https://openalex.org/I44892455","display_name":"Takeda (Japan)","ror":"https://ror.org/04hjbmv12","country_code":"JP","type":"company","lineage":["https://openalex.org/I44892455"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Christine Li","raw_affiliation_strings":["Takeda Pharmaceutical Company, Limited"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Takeda Pharmaceutical Company, Limited","institution_ids":["https://openalex.org/I44892455"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113519237","display_name":"Marisa Dovidio","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210117453","display_name":"Dana-Farber Cancer Institute","ror":"https://ror.org/02jzgtq86","country_code":"US","type":"facility","lineage":["https://openalex.org/I4210117453"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Marisa Dovidio","raw_affiliation_strings":["Dana Farber Cancer Institute"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Dana Farber Cancer Institute","institution_ids":["https://openalex.org/I4210117453"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5038322204","display_name":"Charis Eng","orcid":"https://orcid.org/0000-0002-3693-5145","observed_orcids":["https://orcid.org/0000-0002-3693-5145"]},"institutions":[{"id":"https://openalex.org/I2799885155","display_name":"The Ohio State University Comprehensive Cancer Center \u2013 Arthur G. James Cancer Hospital and Richard J. Solove Research Institute","ror":"https://ror.org/028t46f04","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I2799885155","https://openalex.org/I2802841970"]},{"id":"https://openalex.org/I52357470","display_name":"The Ohio State University","ror":"https://ror.org/00rs6vg23","country_code":"US","type":"education","lineage":["https://openalex.org/I52357470"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Charis Eng","raw_affiliation_strings":["Ohio Stt. Univ. Compreh. Cancer Ctr"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ohio Stt. Univ. Compreh. Cancer Ctr","institution_ids":["https://openalex.org/I2799885155","https://openalex.org/I52357470"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5081915207","display_name":"Richard David Kolodner","orcid":"https://orcid.org/0000-0002-4806-8384","observed_orcids":["https://orcid.org/0000-0002-4806-8384"]},"institutions":[{"id":"https://openalex.org/I196064397","display_name":"Ludwig Cancer Research","ror":"https://ror.org/05923xh51","country_code":"BE","type":"nonprofit","lineage":["https://openalex.org/I196064397","https://openalex.org/I4210150094"]},{"id":"https://openalex.org/I4210117758","display_name":"Ludwig Cancer Research","ror":"https://ror.org/02cn3rm21","country_code":"CH","type":"nonprofit","lineage":["https://openalex.org/I4210117758","https://openalex.org/I4210150094"]},{"id":"https://openalex.org/I4210150094","display_name":"Ludwig Cancer Research","ror":"https://ror.org/05qdwtz81","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210150094"]}],"countries":["BE","CH","US"],"is_corresponding":false,"raw_author_name":"Richard D. Kolodner","raw_affiliation_strings":["Ludwig Institute for Cancer Research,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ludwig Institute for Cancer Research,","institution_ids":["https://openalex.org/I196064397","https://openalex.org/I4210117758","https://openalex.org/I4210150094"]}]},{"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":[{"id":"https://openalex.org/I4210117453","display_name":"Dana-Farber Cancer Institute","ror":"https://ror.org/02jzgtq86","country_code":"US","type":"facility","lineage":["https://openalex.org/I4210117453"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Judy E. Garber","raw_affiliation_strings":["Dana Farber Cancer Institute"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Dana Farber Cancer Institute","institution_ids":["https://openalex.org/I4210117453"]}]}],"institutions":[],"countries_distinct_count":4,"institutions_distinct_count":10,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":9.5568,"has_fulltext":false,"cited_by_count":134,"citation_normalized_percentile":{"value":0.98617404,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":98},"biblio":{"volume":"282","issue":"3","first_page":"247","last_page":"247"},"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/T10769","display_name":"BRCA gene mutations in cancer","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.0,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/lynch-syndrome","display_name":"Lynch syndrome","score":1.0},{"id":"https://openalex.org/keywords/genetic-testing","display_name":"genetic testing","score":0.49399998784065247},{"id":"https://openalex.org/keywords/msh2","display_name":"MSH2","score":0.8759999871253967},{"id":"https://openalex.org/keywords/mlh1","display_name":"MLH1","score":1.0},{"id":"https://openalex.org/keywords/pathogenicity","display_name":"pathogenicity","score":0.7080000042915344},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.9259999990463257},{"id":"https://openalex.org/keywords/truncating-variants","display_name":"truncating mutations","score":0.875},{"id":"https://openalex.org/keywords/amsterdam-criteria","display_name":"Amsterdam criteria","score":0.921999990940094},{"id":"https://openalex.org/keywords/bethesda-guidelines","display_name":"Bethesda guidelines","score":0.8100000023841858},{"id":"https://openalex.org/keywords/genetic-heterogeneity","display_name":"genetic heterogeneity","score":0.8100000023841858},{"id":"https://openalex.org/keywords/cancer-susceptibility","display_name":"cancer susceptibility","score":0.7649999856948853},{"id":"https://openalex.org/keywords/clinical-management","display_name":"clinical management","score":0.4819999933242798}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.8346322178840637},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.7453813552856445},{"id":"https://openalex.org/C2780673598","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic testing","level":2,"score":0.7353735566139221},{"id":"https://openalex.org/C188997412","wikidata":"https://www.wikidata.org/wiki/Q1640386","display_name":"Proband","level":4,"score":0.7105224132537842},{"id":"https://openalex.org/C2776559941","wikidata":"https://www.wikidata.org/wiki/Q783644","display_name":"Lynch syndrome","level":5,"score":0.7026715278625488},{"id":"https://openalex.org/C80227256","wikidata":"https://www.wikidata.org/wiki/Q1124169","display_name":"Genetic counseling","level":2,"score":0.6469236612319946},{"id":"https://openalex.org/C526805850","wikidata":"https://www.wikidata.org/wiki/Q188874","display_name":"Colorectal cancer","level":3,"score":0.5224543809890747},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4992716312408447},{"id":"https://openalex.org/C60748783","wikidata":"https://www.wikidata.org/wiki/Q2984243","display_name":"DNA mismatch repair","level":4,"score":0.4860535264015198},{"id":"https://openalex.org/C2776135927","wikidata":"https://www.wikidata.org/wiki/Q5242559","display_name":"Referral","level":2,"score":0.4715433418750763},{"id":"https://openalex.org/C13514818","wikidata":"https://www.wikidata.org/wiki/Q5552256","display_name":"Germline mutation","level":4,"score":0.42786192893981934},{"id":"https://openalex.org/C121608353","wikidata":"https://www.wikidata.org/wiki/Q12078","display_name":"Cancer","level":2,"score":0.37353813648223877},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.32253536581993103},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.30830901861190796},{"id":"https://openalex.org/C512399662","wikidata":"https://www.wikidata.org/wiki/Q3505712","display_name":"Family medicine","level":1,"score":0.1954607367515564},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.16606104373931885},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.10522052645683289}],"mesh":[{"descriptor_ui":"D000070957","descriptor_name":"MutL Protein Homolog 1","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002352","descriptor_name":"Carrier Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003123","descriptor_name":"Colorectal Neoplasms, Hereditary Nonpolyposis","qualifier_ui":"Q000145","qualifier_name":"classification","is_major_topic":false},{"descriptor_ui":"D003123","descriptor_name":"Colorectal Neoplasms, Hereditary Nonpolyposis","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004268","descriptor_name":"DNA-Binding Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D006579","descriptor_name":"Heterozygote","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":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009363","descriptor_name":"Neoplasm Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D009687","descriptor_name":"Nuclear Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011518","descriptor_name":"Proto-Oncogene Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D048868","descriptor_name":"Adaptor Proteins, Signal Transducing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D051718","descriptor_name":"MutS Homolog 2 Protein","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1001/jama.282.3.247","doi":"https://doi.org/10.1001/jama.282.3.247","is_oa":false,"landing_page_url":"https://doi.org/10.1001/jama.282.3.247","pdf_url":null,"source":{"id":"https://openalex.org/S172573765","display_name":"JAMA","issn_l":"0002-9955","issn":["0002-9955","0098-7484","1538-3598","2376-8118"],"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/P4310320259","host_organization_name":"American Medical Association","host_organization_lineage":["https://openalex.org/P4310320259"],"host_organization_lineage_names":["American Medical Association"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"JAMA","raw_type":"journal-article"},{"id":"pmid:10422993","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/10422993","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":"JAMA","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9940000176429749,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":49,"referenced_works":["https://openalex.org/W186103260","https://openalex.org/W1492192736","https://openalex.org/W1526486526","https://openalex.org/W1542979002","https://openalex.org/W1544581442","https://openalex.org/W1550564711","https://openalex.org/W1619517967","https://openalex.org/W1644383846","https://openalex.org/W1904080927","https://openalex.org/W1977284533","https://openalex.org/W1981112371","https://openalex.org/W1995819860","https://openalex.org/W2004562290","https://openalex.org/W2008210209","https://openalex.org/W2015954973","https://openalex.org/W2017312352","https://openalex.org/W2026450647","https://openalex.org/W2031952060","https://openalex.org/W2044643325","https://openalex.org/W2049842216","https://openalex.org/W2051613879","https://openalex.org/W2053827853","https://openalex.org/W2055955600","https://openalex.org/W2056896539","https://openalex.org/W2060557431","https://openalex.org/W2062700416","https://openalex.org/W2067940389","https://openalex.org/W2078322560","https://openalex.org/W2085843470","https://openalex.org/W2087699253","https://openalex.org/W2093884970","https://openalex.org/W2100880689","https://openalex.org/W2101100795","https://openalex.org/W2123167523","https://openalex.org/W2124561249","https://openalex.org/W2130369873","https://openalex.org/W2136843245","https://openalex.org/W2139964075","https://openalex.org/W2140107851","https://openalex.org/W2140937522","https://openalex.org/W2147021638","https://openalex.org/W2149403662","https://openalex.org/W2157636873","https://openalex.org/W2159032347","https://openalex.org/W2163330492","https://openalex.org/W2167976833","https://openalex.org/W2169306916","https://openalex.org/W2170643358","https://openalex.org/W2417569292"],"related_works":["https://openalex.org/W2319674255","https://openalex.org/W4235691169","https://openalex.org/W2029599471","https://openalex.org/W2004800267","https://openalex.org/W2056896539","https://openalex.org/W114343959","https://openalex.org/W2260689094","https://openalex.org/W7095712886","https://openalex.org/W2326103243","https://openalex.org/W1949820825"],"abstract_inverted_index":{"CONTEXT:":[0],"Genetic":[1],"testing":[2,285],"for":[3,24,121,127,148,203,274,289,295],"cancer":[4,28,105],"predisposition":[5],"is":[6,316],"evolving":[7],"from":[8],"purely":[9],"research":[10],"applications":[11],"to":[12,36,46,87,103,144],"affecting":[13],"clinical":[14,38,189,281],"management.":[15,39],"OBJECTIVE:":[16],"To":[17],"determine":[18],"how":[19],"often":[20],"genetic":[21,237,256,284],"test":[22,257],"results":[23,202,258,277],"hereditary":[25],"nonpolyposis":[26],"colorectal":[27],"(HNPCC)":[29],"can":[30],"be":[31,184],"definitively":[32],"interpreted":[33],"and":[34,56,60,72,109,160,168,216,228,242,291,306],"used":[35,185],"guide":[37],"DESIGN:":[40],"Case-series":[41],"study":[42],"conducted":[43],"in":[44,48,84,172,188,193,252,268,300],"1996":[45],"1998":[47],"which":[49],"a":[50,104,250,269,311],"complete":[51],"sequence":[52,59,302],"analysis":[53,303],"of":[54,77,115,150,158,166,174,196,200,234,239,245,255,259,265,272,298,304],"hMSH2":[55,159,167,305],"hMLH1":[57,161,169,307],"coding":[58],"flanking":[61],"intronic":[62],"regions":[63],"was":[64,141],"performed.":[65],"Mutations":[66],"were":[67,82,94,111,170,191,219],"categorized":[68],"as":[69],"protein":[70],"truncating":[71],"missense.":[73],"In":[74,137],"the":[75,145,240,253,276,296],"case":[76],"missense":[78,235],"alterations,":[79],"additional":[80],"analyses":[81],"performed":[83],"an":[85,286],"effort":[86],"assess":[88],"pathogenicity.":[89],"SETTING":[90],"AND":[91],"PARTICIPANTS:":[92],"Families":[93],"identified":[95,192],"by":[96],"self-referral":[97],"or":[98,134],"health":[99],"care":[100],"provider":[101],"referral":[102],"genetics":[106],"program.":[107],"Participants":[108],"kindreds":[110],"classified":[112,142],"into":[113],"1":[114],"4":[116],"categories:":[117],"(1)":[118],"Amsterdam":[119,125,206,209],"criteria":[120,126],"HNPCC,":[122,128],"(2)":[123],"modified":[124,208],"(3)":[129],"young":[130,211],"age":[131,212],"at":[132,213],"onset,":[133,214],"(4)":[135],"HNPCC-variant.":[136],"addition,":[138],"each":[139],"proband":[140],"according":[143],"Bethesda":[146,217],"guidelines":[147,218],"identification":[149,264],"individuals":[151,299],"with":[152,186],"HNPCC.":[153],"MAIN":[154],"OUTCOME":[155],"MEASURE:":[156],"Alterations":[157],"genes.":[162],"RESULTS:":[163],"Twenty-seven":[164],"alterations":[165],"found":[171],"24":[173],"70":[175],"families":[176,204,273],"(34.3%).":[177],"Of":[178],"these,":[179],"deleterious":[180],"mutations":[181,267],"that":[182],"could":[183],"confidence":[187],"management":[190],"25.7%":[194],"(18/70)":[195],"families.":[197,261],"The":[198,232,263],"rates":[199],"definitive":[201,312],"fulfilling":[205],"criteria,":[207,210],"HNPCC-variant,":[215],"27":[220],"(39.3%),":[221],"13":[222],"(18.2%),":[223],"12":[224],"(16.7%),":[225],"11":[226],"(15.8%),":[227],"21":[229],"(30.4%),":[230],"respectively.":[231],"prevalence":[233],"mutations,":[236],"heterogeneity":[238],"syndrome,":[241],"limited":[243],"availability":[244],"validated":[246],"functional":[247],"assays":[248],"present":[249],"challenge":[251],"interpretation":[254],"HNPCC":[260,290],"CONCLUSIONS:":[262],"pathogenic":[266],"significant":[270],"subset":[271],"whom":[275,301],"may":[278],"have":[279],"marked":[280],"importance":[282],"makes":[283],"important":[287],"option":[288],"HNPCC-like":[292],"kindreds.":[293],"However,":[294],"majority":[297],"does":[308],"not":[309],"give":[310],"result,":[313],"intensive":[314],"follow-up":[315],"still":[317],"warranted.":[318]},"counts_by_year":[{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":1},{"year":2020,"cited_by_count":1},{"year":2018,"cited_by_count":1},{"year":2017,"cited_by_count":3},{"year":2016,"cited_by_count":1},{"year":2015,"cited_by_count":2},{"year":2014,"cited_by_count":3},{"year":2013,"cited_by_count":4},{"year":2012,"cited_by_count":3}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}
