{"id":"https://openalex.org/W2051633931","doi":"https://doi.org/10.1002/(sici)1098-1004(1996)7:4<327::aid-humu6>3.0.co;2-5","title":"Mutation of the hMSH2 gene in two families with hereditary nonpolyposis colorectal cancer","display_name":"Mutation of the hMSH2 gene in two families with hereditary nonpolyposis colorectal cancer","publication_year":1996,"publication_date":"1996-01-01","ids":{"openalex":"https://openalex.org/W2051633931","doi":"https://doi.org/10.1002/(sici)1098-1004(1996)7:4<327::aid-humu6>3.0.co;2-5","mag":"2051633931","pmid":"https://pubmed.ncbi.nlm.nih.gov/8723682"},"language":"en","primary_location":{"id":"doi:10.1002/(sici)1098-1004(1996)7:4<327::aid-humu6>3.0.co;2-5","doi":"https://doi.org/10.1002/(sici)1098-1004(1996)7:4<327::aid-humu6>3.0.co;2-5","is_oa":true,"landing_page_url":"https://doi.org/10.1002/(sici)1098-1004(1996)7:4<327::aid-humu6>3.0.co;2-5","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/%28SICI%291098-1004%281996%297%3A4%3C327%3A%3AAID-HUMU6%3E3.0.CO%3B2-5","source":{"id":"https://openalex.org/S98809561","display_name":"Human Mutation","issn_l":"1059-7794","issn":["1059-7794","1098-1004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","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":"Human Mutation","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/%28SICI%291098-1004%281996%297%3A4%3C327%3A%3AAID-HUMU6%3E3.0.CO%3B2-5","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5014371664","display_name":"Hae Mung Jeon","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1343551460","display_name":"The University of Texas MD Anderson Cancer Center","ror":"https://ror.org/04twxam07","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1343551460"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Hae Mung Jeon","raw_affiliation_strings":["Department of Gastrointestinal Medical Oncology and Digestive Diseases, University of Texas M.D. Anderson Cancer Center, Houston 77030, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Gastrointestinal Medical Oncology and Digestive Diseases, University of Texas M.D. Anderson Cancer Center, Houston 77030, USA","institution_ids":["https://openalex.org/I1343551460"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5055398866","display_name":"Patrick M. Lynch","orcid":"https://orcid.org/0000-0003-0125-3109","observed_orcids":["https://orcid.org/0000-0003-0125-3109"]},"institutions":[{"id":"https://openalex.org/I1343551460","display_name":"The University of Texas MD Anderson Cancer Center","ror":"https://ror.org/04twxam07","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1343551460"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Patrick M. Lynch","raw_affiliation_strings":["Department of Gastrointestinal Medical Oncology and Digestive Diseases, University of Texas M.D. Anderson Cancer Center, Houston, Texas 77030","Gastroenterology Hepatology & Nutrition"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Gastrointestinal Medical Oncology and Digestive Diseases, University of Texas M.D. Anderson Cancer Center, Houston, Texas 77030","institution_ids":["https://openalex.org/I1343551460"]},{"raw_affiliation_string":"Gastroenterology Hepatology & Nutrition","institution_ids":[]}]},{"author_position":"middle","author":{"id":null,"display_name":"Linda Howard","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1343551460","display_name":"The University of Texas MD Anderson Cancer Center","ror":"https://ror.org/04twxam07","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1343551460"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Linda Howard","raw_affiliation_strings":["Department of Gastrointestinal Medical Oncology and Digestive Diseases, University of Texas M.D. Anderson Cancer Center, Houston, Texas 77030"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Gastrointestinal Medical Oncology and Digestive Diseases, University of Texas M.D. Anderson Cancer Center, Houston, Texas 77030","institution_ids":["https://openalex.org/I1343551460"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5044064524","display_name":"Jaffer A. Ajani","orcid":"https://orcid.org/0000-0001-9946-0629","observed_orcids":["https://orcid.org/0000-0001-9946-0629"]},"institutions":[{"id":"https://openalex.org/I1343551460","display_name":"The University of Texas MD Anderson Cancer Center","ror":"https://ror.org/04twxam07","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1343551460"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jaffer Ajani","raw_affiliation_strings":["Department of Gastrointestinal Medical Oncology and Digestive Diseases, University of Texas M.D. Anderson Cancer Center, Houston, Texas 77030","GI Medical Oncology"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Gastrointestinal Medical Oncology and Digestive Diseases, University of Texas M.D. Anderson Cancer Center, Houston, Texas 77030","institution_ids":["https://openalex.org/I1343551460"]},{"raw_affiliation_string":"GI Medical Oncology","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110276120","display_name":"Bernard Levin","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1343551460","display_name":"The University of Texas MD Anderson Cancer Center","ror":"https://ror.org/04twxam07","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1343551460"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Bernard Levin","raw_affiliation_strings":["Department of Gastrointestinal Medical Oncology and Digestive Diseases, University of Texas M.D. Anderson Cancer Center, Houston, Texas 77030"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Gastrointestinal Medical Oncology and Digestive Diseases, University of Texas M.D. Anderson Cancer Center, Houston, Texas 77030","institution_ids":["https://openalex.org/I1343551460"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5112024668","display_name":"Marsha L. Frazier","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1343551460","display_name":"The University of Texas MD Anderson Cancer Center","ror":"https://ror.org/04twxam07","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1343551460"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Marsha L. Frazier","raw_affiliation_strings":["Department of Gastrointestinal Medical Oncology and Digestive Diseases, University of Texas M.D. Anderson Cancer Center, Houston, Texas 77030","Section of Gastrointestinal Oncology and Digestive Diseases, Department of Medical Oncology, Box 78, University of Texas M.D. Anderson Cancer Center, 1515 Holcombe Blvd., Houston, TX 77030"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Gastrointestinal Medical Oncology and Digestive Diseases, University of Texas M.D. Anderson Cancer Center, Houston, Texas 77030","institution_ids":["https://openalex.org/I1343551460"]},{"raw_affiliation_string":"Section of Gastrointestinal Oncology and Digestive Diseases, Department of Medical Oncology, Box 78, University of Texas M.D. Anderson Cancer Center, 1515 Holcombe Blvd., Houston, TX 77030","institution_ids":["https://openalex.org/I1343551460"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5112024668"],"corresponding_institution_ids":["https://openalex.org/I1343551460"],"apc_list":{"value":2740,"currency":"USD","value_usd":2740},"apc_paid":null,"fwci":1.3971,"has_fulltext":true,"cited_by_count":13,"citation_normalized_percentile":{"value":0.81623343,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":93},"biblio":{"volume":"7","issue":"4","first_page":"327","last_page":"333"},"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/T10123","display_name":"DNA Repair Mechanisms","score":0.0,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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":0.9869999885559082},{"id":"https://openalex.org/keywords/frameshift-mutation","display_name":"frameshift mutation","score":0.921999990940094},{"id":"https://openalex.org/keywords/amsterdam-criteria","display_name":"Amsterdam criteria","score":0.7450000047683716},{"id":"https://openalex.org/keywords/breast-cancer","display_name":"breast cancer","score":0.8629999756813049},{"id":"https://openalex.org/keywords/dna-mismatch-repair","display_name":"DNA mismatch repair","score":0.7009999752044678},{"id":"https://openalex.org/keywords/germline-mutations","display_name":"germline mutations","score":0.5289999842643738},{"id":"https://openalex.org/keywords/family-history-of-cancer","display_name":"family history of cancer","score":0.5809999704360962}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.882290780544281},{"id":"https://openalex.org/C526805850","wikidata":"https://www.wikidata.org/wiki/Q188874","display_name":"Colorectal cancer","level":3,"score":0.6791674494743347},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6423207521438599},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5574623346328735},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5340594053268433},{"id":"https://openalex.org/C121608353","wikidata":"https://www.wikidata.org/wiki/Q12078","display_name":"Cancer","level":2,"score":0.42140185832977295},{"id":"https://openalex.org/C502942594","wikidata":"https://www.wikidata.org/wiki/Q3421914","display_name":"Cancer research","level":1,"score":0.34331339597702026}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003062","descriptor_name":"Codon","qualifier_ui":null,"qualifier_name":null,"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":"D004247","descriptor_name":"DNA","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004268","descriptor_name":"DNA-Binding Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D005260","descriptor_name":"Female","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":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009692","descriptor_name":"Nucleic Acid Heteroduplexes","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":"D011518","descriptor_name":"Proto-Oncogene Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D051718","descriptor_name":"MutS Homolog 2 Protein","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1002/(sici)1098-1004(1996)7:4<327::aid-humu6>3.0.co;2-5","doi":"https://doi.org/10.1002/(sici)1098-1004(1996)7:4<327::aid-humu6>3.0.co;2-5","is_oa":true,"landing_page_url":"https://doi.org/10.1002/(sici)1098-1004(1996)7:4<327::aid-humu6>3.0.co;2-5","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/%28SICI%291098-1004%281996%297%3A4%3C327%3A%3AAID-HUMU6%3E3.0.CO%3B2-5","source":{"id":"https://openalex.org/S98809561","display_name":"Human Mutation","issn_l":"1059-7794","issn":["1059-7794","1098-1004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","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":"Human Mutation","raw_type":"journal-article"},{"id":"doi:10.1002/(sici)1098-1004(1996)7:4<327::aid-humu6>3.3.co;2-n","doi":"https://doi.org/10.1002/(sici)1098-1004(1996)7:4<327::aid-humu6>3.3.co;2-n","is_oa":false,"landing_page_url":"https://doi.org/10.1002/(sici)1098-1004(1996)7:4<327::aid-humu6>3.3.co;2-n","pdf_url":null,"source":{"id":"https://openalex.org/S98809561","display_name":"Human Mutation","issn_l":"1059-7794","issn":["1059-7794","1098-1004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","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":"Human Mutation","raw_type":"journal-article"},{"id":"pmid:8723682","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/8723682","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":"Human mutation","raw_type":"Journal Article"}],"best_oa_location":{"id":"doi:10.1002/(sici)1098-1004(1996)7:4<327::aid-humu6>3.0.co;2-5","doi":"https://doi.org/10.1002/(sici)1098-1004(1996)7:4<327::aid-humu6>3.0.co;2-5","is_oa":true,"landing_page_url":"https://doi.org/10.1002/(sici)1098-1004(1996)7:4<327::aid-humu6>3.0.co;2-5","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/%28SICI%291098-1004%281996%297%3A4%3C327%3A%3AAID-HUMU6%3E3.0.CO%3B2-5","source":{"id":"https://openalex.org/S98809561","display_name":"Human Mutation","issn_l":"1059-7794","issn":["1059-7794","1098-1004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","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":"Human Mutation","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9789000153541565}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[{"id":"https://openalex.org/G1282442966","display_name":null,"funder_award_id":"R01 CA56045","funder_id":"https://openalex.org/F4320337351","funder_display_name":"National Cancer Institute"},{"id":"https://openalex.org/G1619438925","display_name":null,"funder_award_id":"CA-16672","funder_id":"https://openalex.org/F4320337351","funder_display_name":"National Cancer Institute"},{"id":"https://openalex.org/G2971707052","display_name":"ELONGATION FACTOR 1-GAMMA RELATED SEQUENCE--COLON CANCER","funder_award_id":"5r01ca056045-02","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G9000878657","display_name":"Cancer Center Support Grant","funder_award_id":"P30CA016672","funder_id":"https://openalex.org/F4320337351","funder_display_name":"National Cancer Institute"}],"funders":[{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337351","display_name":"National Cancer Institute","ror":"https://ror.org/040gcmg81"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2051633931.pdf","grobid_xml":"https://content.openalex.org/works/W2051633931.grobid-xml"},"referenced_works_count":17,"referenced_works":["https://openalex.org/W186103260","https://openalex.org/W1490250257","https://openalex.org/W1569141172","https://openalex.org/W1644383846","https://openalex.org/W1966618577","https://openalex.org/W1977284533","https://openalex.org/W1981112371","https://openalex.org/W2008749771","https://openalex.org/W2017359926","https://openalex.org/W2044643325","https://openalex.org/W2053827853","https://openalex.org/W2067028787","https://openalex.org/W2084814864","https://openalex.org/W2124896165","https://openalex.org/W2139964075","https://openalex.org/W2411306953","https://openalex.org/W2416214893"],"related_works":["https://openalex.org/W2094276333","https://openalex.org/W1984383341","https://openalex.org/W1479672868","https://openalex.org/W2057936542","https://openalex.org/W2005157409","https://openalex.org/W2347984384","https://openalex.org/W2075231245","https://openalex.org/W1993373816","https://openalex.org/W1981791478","https://openalex.org/W2016928348"],"abstract_inverted_index":{"We":[0,109],"examined":[1,110],"18":[2,35],"unrelated":[3],"individuals":[4,36,56,93,127],"who":[5,133,140],"have":[6,17],"colorectal":[7],"cancer":[8,22,143,149,165],"or":[9],"cancers":[10],"associated":[11],"with":[12,120,130,156,199],"the":[13,29,34,38,63,70,75,105,117,131,171,176,183,192,200,208],"HNPCC":[14,172,212],"syndrome":[15],"and":[16,139],"a":[18,51,58,88,157,168],"family":[19,114],"history":[20],"of":[21,28,33,47,69,78,116,147,170,194,233,235],"for":[23,211,231],"mutations":[24,181,201],"in":[25,44,50,62,91,104,150,182,186],"exon":[26,79],"13":[27,80],"hMSH2":[30,184],"gene.":[31],"Two":[32,54],"had":[37,57],"same":[39],"previously":[40,83],"unreported":[41],"single-base":[42],"deletion":[43],"codon":[45,121,159,203],"705":[46,122,160,204],"hMSH2,":[48],"resulting":[49],"frame-shift":[52],"mutation.":[53],"other":[55],"T-to-C":[59],"base":[60],"change":[61],"intron":[64],"sequence":[65,99],"at":[66,74,202],"-6":[67],"position":[68],"splice":[71],"acceptor":[72],"site":[73],"5'":[76],"end":[77],"which":[81],"has":[82],"been":[84],"reported":[85],"to":[86,179,206],"be":[87,167,229],"polymorphism":[89],"found":[90],"normal":[92],"(Leach":[94],"et":[95,214],"al.,":[96,215],"1993).":[97],"Nucleotide":[98],"changes":[100],"were":[101,128,134],"not":[102,190],"detected":[103],"remaining":[106],"14":[107],"individuals.":[108],"DNA":[111],"from":[112],"additional":[113],"members":[115],"two":[118,126],"subjects":[119],"mutations.":[123],"Of":[124],"these,":[125],"identified":[129],"mutation":[132],"older":[135],"than":[136],"50":[137],"years":[138],"are":[141],"apparently":[142],"free.":[144],"The":[145],"occurrence":[146],"breast":[148,164],"both":[151,197],"families":[152,187,198],"(including":[153],"one":[154],"individual":[155],"confirmed":[158],"mutation)":[161],"suggests":[162],"that":[163,188,224],"may":[166],"part":[169],"syndrome.":[173],"This":[174],"is":[175],"first":[177],"study":[178],"describe":[180],"gene":[185],"do":[189],"fit":[191],"definition":[193],"HNPCC.":[195,236],"Because":[196],"failed":[205],"meet":[207],"Amsterdam":[209],"criteria":[210,226],"(Vasen":[213],"Dis":[216],"Colon":[217],"Rectum":[218],"34:424-425,":[219],"1991),":[220],"our":[221],"findings":[222],"suggest":[223],"these":[225],"should":[227],"now":[228],"reconsidered":[230],"purposes":[232],"diagnosis":[234]},"counts_by_year":[{"year":2023,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}