{"id":"https://openalex.org/W1653482818","doi":"https://doi.org/10.1034/j.1399-0004.2000.580201.x","title":"Hereditary colorectal cancer: risk assessment and management","display_name":"Hereditary colorectal cancer: risk assessment and management","publication_year":2000,"publication_date":"2000-08-01","ids":{"openalex":"https://openalex.org/W1653482818","doi":"https://doi.org/10.1034/j.1399-0004.2000.580201.x","mag":"1653482818","pmid":"https://pubmed.ncbi.nlm.nih.gov/11005140"},"language":"en","primary_location":{"id":"doi:10.1034/j.1399-0004.2000.580201.x","doi":"https://doi.org/10.1034/j.1399-0004.2000.580201.x","is_oa":false,"landing_page_url":"https://doi.org/10.1034/j.1399-0004.2000.580201.x","pdf_url":null,"source":{"id":"https://openalex.org/S4954800","display_name":"Clinical Genetics","issn_l":"0009-9163","issn":["0009-9163","1399-0004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["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/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical Genetics","raw_type":"journal-article"},"volume":null,"type":"review","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/A5012798070","display_name":"Heather Hampel","orcid":"https://orcid.org/0000-0001-7558-9794","observed_orcids":["https://orcid.org/0000-0001-7558-9794"]},"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":true,"raw_author_name":"Heather Hampel","raw_affiliation_strings":["Clinical Cancer Genetics Program, Arthur G James Cancer Hospital and Richard J Solove Research Institute, Ohio State University, Columbus 43210-1240, USA. hampel-2@medctr.osu.edu","Clinical Cancer Genetics Program and","Human Cancer Genetics Program, Arthur G James Cancer Hospital and Richard J Solove Research Institute, Ohio State University, Columbus, OH, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinical Cancer Genetics Program, Arthur G James Cancer Hospital and Richard J Solove Research Institute, Ohio State University, Columbus 43210-1240, USA. hampel-2@medctr.osu.edu","institution_ids":["https://openalex.org/I2799885155","https://openalex.org/I52357470"]},{"raw_affiliation_string":"Clinical Cancer Genetics Program and","institution_ids":[]},{"raw_affiliation_string":"Human Cancer Genetics Program, Arthur G James Cancer Hospital and Richard J Solove Research Institute, Ohio State University, Columbus, OH, USA","institution_ids":["https://openalex.org/I2799885155","https://openalex.org/I52357470"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5017226176","display_name":"Pa\u00efvi Peltom\u00e4ki","orcid":"https://orcid.org/0000-0001-8819-2980","observed_orcids":["https://orcid.org/0000-0001-8819-2980"]},"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":"Paivi Peltomaki","raw_affiliation_strings":["Human Cancer Genetics Program, Arthur G James Cancer Hospital and Richard J Solove Research Institute, Ohio State University, Columbus, OH, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Human Cancer Genetics Program, Arthur G James Cancer Hospital and Richard J Solove Research Institute, Ohio State University, Columbus, OH, USA","institution_ids":["https://openalex.org/I2799885155","https://openalex.org/I52357470"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5012798070"],"corresponding_institution_ids":["https://openalex.org/I2799885155","https://openalex.org/I52357470"],"apc_list":{"value":4980,"currency":"USD","value_usd":4980},"apc_paid":null,"fwci":0.5442,"has_fulltext":false,"cited_by_count":84,"citation_normalized_percentile":{"value":0.50381679,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":98},"biblio":{"volume":"58","issue":"2","first_page":"89","last_page":"97"},"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":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"}},{"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/hereditary-colorectal-cancer","display_name":"hereditary colorectal cancer","score":0.9980000257492065},{"id":"https://openalex.org/keywords/cancer-predisposition-syndromes","display_name":"cancer predisposition syndromes","score":0.902999997138977},{"id":"https://openalex.org/keywords/lynch-syndrome","display_name":"Lynch syndrome","score":0.9350000023841858},{"id":"https://openalex.org/keywords/muir-torre-syndrome","display_name":"Muir-Torre syndrome","score":0.9940000176429749},{"id":"https://openalex.org/keywords/turcot-syndrome","display_name":"Turcot syndrome","score":0.9990000128746033},{"id":"https://openalex.org/keywords/familial-adenomatous-polyposis","display_name":"familial adenomatous polyposis","score":0.9990000128746033},{"id":"https://openalex.org/keywords/attenuated-familial-adenomatous-polyposis","display_name":"attenuated familial adenomatous polyposis","score":0.9990000128746033},{"id":"https://openalex.org/keywords/peutz-jeghers-syndrome","display_name":"Peutz-Jeghers syndrome","score":0.996999979019165},{"id":"https://openalex.org/keywords/juvenile-polyposis-syndrome","display_name":"juvenile polyposis syndrome","score":0.9549999833106995},{"id":"https://openalex.org/keywords/pten-hamartoma-tumor-syndrome","display_name":"PTEN hamartoma tumor syndrome","score":0.9980000257492065},{"id":"https://openalex.org/keywords/colorectal-polyposis","display_name":"colorectal polyposis","score":0.9760000109672546},{"id":"https://openalex.org/keywords/risk-assessment","display_name":"risk assessment","score":0.8579999804496765},{"id":"https://openalex.org/keywords/cancer-surveillance","display_name":"cancer surveillance","score":0.5590000152587891}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.8267363905906677},{"id":"https://openalex.org/C526805850","wikidata":"https://www.wikidata.org/wiki/Q188874","display_name":"Colorectal cancer","level":3,"score":0.7609996199607849},{"id":"https://openalex.org/C2780814781","wikidata":"https://www.wikidata.org/wiki/Q1369011","display_name":"Familial adenomatous polyposis","level":4,"score":0.6476114988327026},{"id":"https://openalex.org/C2776559941","wikidata":"https://www.wikidata.org/wiki/Q783644","display_name":"Lynch syndrome","level":5,"score":0.5568046569824219},{"id":"https://openalex.org/C121608353","wikidata":"https://www.wikidata.org/wiki/Q12078","display_name":"Cancer","level":2,"score":0.5405816435813904},{"id":"https://openalex.org/C2780846426","wikidata":"https://www.wikidata.org/wiki/Q1138188","display_name":"Cowden syndrome","level":5,"score":0.5264832973480225},{"id":"https://openalex.org/C2781179581","wikidata":"https://www.wikidata.org/wiki/Q2857712","display_name":"Family history","level":2,"score":0.4650866389274597},{"id":"https://openalex.org/C143998085","wikidata":"https://www.wikidata.org/wiki/Q162555","display_name":"Oncology","level":1,"score":0.45305269956588745},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.4446975886821747},{"id":"https://openalex.org/C2778237340","wikidata":"https://www.wikidata.org/wiki/Q14883378","display_name":"Adenomatous polyposis coli","level":4,"score":0.41790884733200073},{"id":"https://openalex.org/C13514818","wikidata":"https://www.wikidata.org/wiki/Q5552256","display_name":"Germline mutation","level":4,"score":0.23574784398078918},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.15644654631614685},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.1176738440990448},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.10834258794784546},{"id":"https://openalex.org/C60748783","wikidata":"https://www.wikidata.org/wiki/Q2984243","display_name":"DNA mismatch repair","level":4,"score":0.09262743592262268},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.0}],"mesh":[{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015179","descriptor_name":"Colorectal Neoplasms","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D015179","descriptor_name":"Colorectal Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D015179","descriptor_name":"Colorectal Neoplasms","qualifier_ui":"Q000628","qualifier_name":"therapy","is_major_topic":true},{"descriptor_ui":"D018570","descriptor_name":"Risk Assessment","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}],"locations_count":2,"locations":[{"id":"doi:10.1034/j.1399-0004.2000.580201.x","doi":"https://doi.org/10.1034/j.1399-0004.2000.580201.x","is_oa":false,"landing_page_url":"https://doi.org/10.1034/j.1399-0004.2000.580201.x","pdf_url":null,"source":{"id":"https://openalex.org/S4954800","display_name":"Clinical Genetics","issn_l":"0009-9163","issn":["0009-9163","1399-0004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["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/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical Genetics","raw_type":"journal-article"},{"id":"pmid:11005140","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/11005140","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":"Clinical genetics","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9922999739646912}],"study_designs":[],"awards":[{"id":"https://openalex.org/G5685941982","display_name":"PREDISPOSING/MODIFYING GENES IN HEREDITARY COLON CANCER","funder_award_id":"R01CA082282","funder_id":"https://openalex.org/F4320337351","funder_display_name":"National Cancer Institute"},{"id":"https://openalex.org/G6439902454","display_name":null,"funder_award_id":"R01 CA82282-01","funder_id":"https://openalex.org/F4320337351","funder_display_name":"National Cancer Institute"},{"id":"https://openalex.org/G9000887552","display_name":"Cancer Center Support Grant","funder_award_id":"P30CA016058","funder_id":"https://openalex.org/F4320337351","funder_display_name":"National Cancer Institute"}],"funders":[{"id":"https://openalex.org/F4320306143","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03"},{"id":"https://openalex.org/F4320337348","display_name":"National Human Genome Research Institute","ror":"https://ror.org/00baak391"},{"id":"https://openalex.org/F4320337351","display_name":"National Cancer Institute","ror":"https://ror.org/040gcmg81"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":61,"referenced_works":["https://openalex.org/W1493525469","https://openalex.org/W1561313993","https://openalex.org/W1618863211","https://openalex.org/W1619256199","https://openalex.org/W1816071794","https://openalex.org/W1973591203","https://openalex.org/W1982464261","https://openalex.org/W2001172895","https://openalex.org/W2004800267","https://openalex.org/W2007161712","https://openalex.org/W2010053675","https://openalex.org/W2024256085","https://openalex.org/W2027806031","https://openalex.org/W2030072706","https://openalex.org/W2033783187","https://openalex.org/W2034251343","https://openalex.org/W2036669020","https://openalex.org/W2037032425","https://openalex.org/W2037395897","https://openalex.org/W2041131057","https://openalex.org/W2043391483","https://openalex.org/W2047420232","https://openalex.org/W2048332220","https://openalex.org/W2048341930","https://openalex.org/W2052165838","https://openalex.org/W2056280833","https://openalex.org/W2056896539","https://openalex.org/W2060453566","https://openalex.org/W2067548151","https://openalex.org/W2076269784","https://openalex.org/W2079819604","https://openalex.org/W2084365700","https://openalex.org/W2084614353","https://openalex.org/W2085843470","https://openalex.org/W2090159042","https://openalex.org/W2093531978","https://openalex.org/W2094396457","https://openalex.org/W2094638529","https://openalex.org/W2103923927","https://openalex.org/W2105091650","https://openalex.org/W2108998004","https://openalex.org/W2112677111","https://openalex.org/W2122139821","https://openalex.org/W2122230708","https://openalex.org/W2124896165","https://openalex.org/W2125256208","https://openalex.org/W2131996058","https://openalex.org/W2140937522","https://openalex.org/W2145828336","https://openalex.org/W2149403662","https://openalex.org/W2150233389","https://openalex.org/W2151308486","https://openalex.org/W2156299764","https://openalex.org/W2164452613","https://openalex.org/W2341084019","https://openalex.org/W2397216618","https://openalex.org/W2397230105","https://openalex.org/W2416531602","https://openalex.org/W2432957624","https://openalex.org/W2434588086","https://openalex.org/W4245008652"],"related_works":["https://openalex.org/W2032841966","https://openalex.org/W2010757396","https://openalex.org/W2744754051","https://openalex.org/W2072746741","https://openalex.org/W4400268282","https://openalex.org/W4390236659","https://openalex.org/W7167714054","https://openalex.org/W2022180752","https://openalex.org/W2809940027","https://openalex.org/W2036718908"],"abstract_inverted_index":{"There":[0],"are":[1],"at":[2],"least":[3],"nine":[4],"major":[5],"cancer":[6,16,23,63,87,102],"susceptibility":[7],"syndromes":[8,103,136],"that":[9],"infer":[10],"an":[11],"increased":[12],"risk":[13,80],"for":[14,117],"colorectal":[15,18,22,62,86,101],"and/or":[17],"polyposis;":[19],"hereditary":[20,61,85,100],"nonpolyposis":[21],"syndrome,":[24,26,28,45],"Muir-Torre":[25],"Turcot":[27],"the":[29,33,49,57,76,99,106,113,143,150],"I1307K":[30],"polymorphism":[31],"of":[32,60,84,98,109,134],"APC":[34],"gene,":[35],"familial":[36,40],"adenomatous":[37,41],"polyposis,":[38,42,47],"attenuated":[39],"Peutz":[43],"Jeghers":[44],"juvenile":[46],"and":[48,82,112,139,154],"PTEN":[50],"hamartoma":[51],"tumor":[52],"syndrome.":[53],"As":[54],"a":[55,72,124],"result,":[56],"differential":[58],"diagnosis":[59,108],"can":[64],"be":[65],"complex.":[66],"In":[67],"addition,":[68],"there":[69],"has":[70],"been":[71],"dramatic":[73],"increase":[74],"in":[75],"knowledge":[77],"available":[78,148],"regarding":[79],"assessment":[81],"management":[83],"syndromes.":[88],"The":[89],"literature":[90],"was":[91],"reviewed":[92],"to":[93,104,123,149],"develop":[94],"this":[95],"concise":[96],"review":[97],"facilitate":[105],"accurate":[107],"each":[110],"syndrome":[111],"appropriate":[114,131],"medical":[115],"care":[116,157],"individuals":[118],"with":[119],"these":[120,135],"diagnoses.":[121],"Referral":[122],"qualified":[125],"Clinical":[126],"Cancer":[127],"Genetics":[128],"program":[129],"is":[130,137,147],"if":[132],"any":[133],"suspected":[138],"they":[140],"will":[141],"ensure":[142],"most":[144],"up-to-date":[145],"information":[146],"patient,":[151],"their":[152,155],"family,":[153],"health":[156],"professionals.":[158]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":3},{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":1},{"year":2015,"cited_by_count":3},{"year":2014,"cited_by_count":3},{"year":2013,"cited_by_count":1},{"year":2012,"cited_by_count":4}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}