{"id":"https://openalex.org/W2000438778","doi":"https://doi.org/10.1158/0008-5472.can-06-0248","title":"MLH3 Mutation in Endometrial Cancer","display_name":"MLH3 Mutation in Endometrial Cancer","publication_year":2006,"publication_date":"2006-08-01","ids":{"openalex":"https://openalex.org/W2000438778","doi":"https://doi.org/10.1158/0008-5472.can-06-0248","mag":"2000438778","pmid":"https://pubmed.ncbi.nlm.nih.gov/16885347"},"language":"en","primary_location":{"id":"doi:10.1158/0008-5472.can-06-0248","doi":"https://doi.org/10.1158/0008-5472.can-06-0248","is_oa":false,"landing_page_url":"https://doi.org/10.1158/0008-5472.can-06-0248","pdf_url":null,"source":{"id":"https://openalex.org/S168522863","display_name":"Cancer Research","issn_l":"0008-5472","issn":["0008-5472","1538-7445"],"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/P4310320273","host_organization_name":"American Association for Cancer Research","host_organization_lineage":["https://openalex.org/P4310320273"],"host_organization_lineage_names":["American Association for Cancer Research"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Cancer Research","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/A5103383134","display_name":"Nicholas P. Taylor","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1299725459","display_name":"Barnes-Jewish Hospital","ror":"https://ror.org/04wyvkr12","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1299725459","https://openalex.org/I1328499231"]},{"id":"https://openalex.org/I204465549","display_name":"Washington University in St. Louis","ror":"https://ror.org/01yc7t268","country_code":"US","type":"education","lineage":["https://openalex.org/I204465549"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Nicholas P. Taylor","raw_affiliation_strings":["1Department of Obstetrics and Gynecology, Division of Gynecologic Oncology; Departments of","Department of Obstetrics and Gynecology, Division of Gynecologic Oncology, Washington University School of Medicine, 4911 Barnes-Jewish Hospital Plaza, St. Louis, MO 63110, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1Department of Obstetrics and Gynecology, Division of Gynecologic Oncology; Departments of","institution_ids":[]},{"raw_affiliation_string":"Department of Obstetrics and Gynecology, Division of Gynecologic Oncology, Washington University School of Medicine, 4911 Barnes-Jewish Hospital Plaza, St. Louis, MO 63110, USA","institution_ids":["https://openalex.org/I1299725459","https://openalex.org/I204465549"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5003854163","display_name":"Matthew A. Powell","orcid":"https://orcid.org/0000-0002-9001-3862","observed_orcids":["https://orcid.org/0000-0002-9001-3862"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Matthew A. Powell","raw_affiliation_strings":["1Department of Obstetrics and Gynecology, Division of Gynecologic Oncology; Departments of"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1Department of Obstetrics and Gynecology, Division of Gynecologic Oncology; Departments of","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5056021442","display_name":"Randall K. Gibb","orcid":"https://orcid.org/0000-0001-7365-1435","observed_orcids":["https://orcid.org/0000-0001-7365-1435"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Randall K. Gibb","raw_affiliation_strings":["1Department of Obstetrics and Gynecology, Division of Gynecologic Oncology; Departments of"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1Department of Obstetrics and Gynecology, Division of Gynecologic Oncology; Departments of","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5017254635","display_name":"Janet Sue Rader","orcid":"https://orcid.org/0000-0001-7031-3385","observed_orcids":["https://orcid.org/0000-0001-7031-3385"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Janet S. Rader","raw_affiliation_strings":["1Department of Obstetrics and Gynecology, Division of Gynecologic Oncology; Departments of"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1Department of Obstetrics and Gynecology, Division of Gynecologic Oncology; Departments of","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109993722","display_name":"Phyllis C. Huettner","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Phyllis C. Huettner","raw_affiliation_strings":["2Pathology and Immunology and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"2Pathology and Immunology and","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5090473173","display_name":"Stephen N. Thibodeau","orcid":"https://orcid.org/0000-0003-0078-8558","observed_orcids":["https://orcid.org/0000-0003-0078-8558"]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Stephen N. Thibodeau","raw_affiliation_strings":["4Laboratory Medicine and Pathology, Mayo Clinical College of Medicine, Rochester, Minnesota"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"4Laboratory Medicine and Pathology, Mayo Clinical College of Medicine, Rochester, Minnesota","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5076087889","display_name":"David Gardner Mutch","orcid":"https://orcid.org/0000-0002-6921-1581","observed_orcids":["https://orcid.org/0000-0002-6921-1581"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"David G. Mutch","raw_affiliation_strings":["1Department of Obstetrics and Gynecology, Division of Gynecologic Oncology; Departments of"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1Department of Obstetrics and Gynecology, Division of Gynecologic Oncology; Departments of","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5102714585","display_name":"Paul J. Goodfellow","orcid":"https://orcid.org/0000-0002-0260-4583","observed_orcids":["https://orcid.org/0000-0002-0260-4583"]},"institutions":[{"id":"https://openalex.org/I204465549","display_name":"Washington University in St. Louis","ror":"https://ror.org/01yc7t268","country_code":"US","type":"education","lineage":["https://openalex.org/I204465549"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Paul J. Goodfellow","raw_affiliation_strings":["1Department of Obstetrics and Gynecology, Division of Gynecologic Oncology; Departments of","3Surgery, Washington University School of Medicine, St. Louis, Missouri; and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1Department of Obstetrics and Gynecology, Division of Gynecologic Oncology; Departments of","institution_ids":[]},{"raw_affiliation_string":"3Surgery, Washington University School of Medicine, St. Louis, Missouri; and","institution_ids":["https://openalex.org/I204465549"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":1.8398,"has_fulltext":false,"cited_by_count":35,"citation_normalized_percentile":{"value":0.84326822,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":98},"biblio":{"volume":"66","issue":"15","first_page":"7502","last_page":"7508"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11369","display_name":"Genetic factors in colorectal cancer","score":0.9976000189781189,"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":0.9976000189781189,"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/T10123","display_name":"DNA Repair Mechanisms","score":0.0015999999595806003,"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"}},{"id":"https://openalex.org/T10769","display_name":"BRCA gene mutations in cancer","score":0.00019999999494757503,"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/mlh3","display_name":"MLH3","score":0.9990000128746033},{"id":"https://openalex.org/keywords/endometrial-cancer","display_name":"endometrial cancer","score":0.996999979019165},{"id":"https://openalex.org/keywords/dna-mismatch-repair","display_name":"DNA mismatch repair","score":0.9559999704360962},{"id":"https://openalex.org/keywords/mlh1","display_name":"MLH1","score":0.6970000267028809},{"id":"https://openalex.org/keywords/loss-of-heterozygosity","display_name":"loss of heterozygosity","score":0.7829999923706055},{"id":"https://openalex.org/keywords/somatic-mutations","display_name":"somatic mutations","score":0.765999972820282},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.8550000190734863},{"id":"https://openalex.org/keywords/promoter-methylation","display_name":"promoter methylation","score":0.8840000033378601},{"id":"https://openalex.org/keywords/hereditary-cancer-susceptibility","display_name":"hereditary cancer predisposition","score":0.7099999785423279},{"id":"https://openalex.org/keywords/carcinogenesis","display_name":"carcinogenesis","score":0.8299999833106995}],"concepts":[{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.6744476556777954},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6248670816421509},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4929778575897217},{"id":"https://openalex.org/C143589142","wikidata":"https://www.wikidata.org/wiki/Q2617554","display_name":"Loss of heterozygosity","level":4,"score":0.47883227467536926},{"id":"https://openalex.org/C555283112","wikidata":"https://www.wikidata.org/wiki/Q1637543","display_name":"Carcinogenesis","level":3,"score":0.4755173325538635},{"id":"https://openalex.org/C13514818","wikidata":"https://www.wikidata.org/wiki/Q5552256","display_name":"Germline mutation","level":4,"score":0.43381255865097046},{"id":"https://openalex.org/C2776674815","wikidata":"https://www.wikidata.org/wiki/Q14911717","display_name":"MSH6","level":5,"score":0.4119674861431122},{"id":"https://openalex.org/C502942594","wikidata":"https://www.wikidata.org/wiki/Q3421914","display_name":"Cancer research","level":1,"score":0.40295320749282837},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.3414514660835266},{"id":"https://openalex.org/C121608353","wikidata":"https://www.wikidata.org/wiki/Q12078","display_name":"Cancer","level":2,"score":0.27436769008636475},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.08839434385299683},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.0}],"mesh":[{"descriptor_ui":"D000070956","descriptor_name":"MutL Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002352","descriptor_name":"Carrier Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","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":"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":"D011401","descriptor_name":"Promoter Regions, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015331","descriptor_name":"Cohort Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016022","descriptor_name":"Case-Control Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016889","descriptor_name":"Endometrial Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D018095","descriptor_name":"Germ-Line Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019175","descriptor_name":"DNA Methylation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019656","descriptor_name":"Loss of Heterozygosity","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":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1158/0008-5472.can-06-0248","doi":"https://doi.org/10.1158/0008-5472.can-06-0248","is_oa":false,"landing_page_url":"https://doi.org/10.1158/0008-5472.can-06-0248","pdf_url":null,"source":{"id":"https://openalex.org/S168522863","display_name":"Cancer Research","issn_l":"0008-5472","issn":["0008-5472","1538-7445"],"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/P4310320273","host_organization_name":"American Association for Cancer Research","host_organization_lineage":["https://openalex.org/P4310320273"],"host_organization_lineage_names":["American Association for Cancer Research"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Cancer Research","raw_type":"journal-article"},{"id":"pmid:16885347","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/16885347","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":"Cancer research","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":0.9537000060081482}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[{"id":"https://openalex.org/G1751205241","display_name":"Defective DNA Mismatch Repair in Endometrial Cancers","funder_award_id":"R01CA071754","funder_id":"https://openalex.org/F4320337351","funder_display_name":"National Cancer Institute"},{"id":"https://openalex.org/G9000907135","display_name":"Cancer Center Support Grant","funder_award_id":"P30CA091842","funder_id":"https://openalex.org/F4320337351","funder_display_name":"National Cancer Institute"}],"funders":[{"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":43,"referenced_works":["https://openalex.org/W184925810","https://openalex.org/W1480547785","https://openalex.org/W1506338733","https://openalex.org/W1533555842","https://openalex.org/W1536020477","https://openalex.org/W1544851750","https://openalex.org/W1580458764","https://openalex.org/W1589366730","https://openalex.org/W1657555993","https://openalex.org/W1964858952","https://openalex.org/W1971008783","https://openalex.org/W1988481255","https://openalex.org/W1997706585","https://openalex.org/W2005574523","https://openalex.org/W2008129321","https://openalex.org/W2025216788","https://openalex.org/W2030036763","https://openalex.org/W2036395605","https://openalex.org/W2039043015","https://openalex.org/W2046450069","https://openalex.org/W2051781903","https://openalex.org/W2067135122","https://openalex.org/W2069312685","https://openalex.org/W2085554251","https://openalex.org/W2100260149","https://openalex.org/W2101851224","https://openalex.org/W2108881204","https://openalex.org/W2109193159","https://openalex.org/W2114971923","https://openalex.org/W2122743642","https://openalex.org/W2132173772","https://openalex.org/W2139015332","https://openalex.org/W2141647078","https://openalex.org/W2143787623","https://openalex.org/W2150851460","https://openalex.org/W2159102140","https://openalex.org/W2159824328","https://openalex.org/W2162290024","https://openalex.org/W2164004777","https://openalex.org/W2166353145","https://openalex.org/W2166932692","https://openalex.org/W4230482292","https://openalex.org/W6675002902"],"related_works":["https://openalex.org/W4409864252","https://openalex.org/W7098180601","https://openalex.org/W2069312685","https://openalex.org/W2530473129","https://openalex.org/W1967460900","https://openalex.org/W2169306916","https://openalex.org/W7097904860","https://openalex.org/W1980611328","https://openalex.org/W3127185701","https://openalex.org/W2047817600"],"abstract_inverted_index":{"MLH3":[0,26,39,54,150,192],"is":[1],"a":[2,29,44,131,180,183,189],"recently":[3],"described":[4],"member":[5],"of":[6,47,53,70,138,149,161,171],"the":[7,18,51,119,177],"DNA":[8,75],"mismatch":[9],"repair":[10],"gene":[11],"family.":[12],"Based":[13],"on":[14,154],"its":[15],"interaction":[16],"with":[17,92,182],"MutL":[19],"homologue":[20],"MLH1,":[21],"it":[22],"was":[23,146],"postulated":[24],"that":[25],"might":[27],"play":[28],"role":[30,52,64,190],"in":[31,38,43,55,65,141,169,176,193],"tumorigenesis.":[32,195],"Germ":[33],"line":[34,74,133,185],"and":[35,72,136,174],"somatic":[36,126,165],"mutations":[37,97,167],"have":[40],"been":[41],"identified":[42,112],"small":[45],"fraction":[46],"colorectal":[48,56],"cancers,":[49],"but":[50],"cancer":[57,79,89],"tumorigenesis":[58,67],"remains":[59],"controversial.":[60],"We":[61],"investigated":[62],"MLH3's":[63],"endometrial":[66,78,194],"through":[68],"analysis":[69],"tumor":[71,143,178],"germ":[73,132,184],"from":[76,179],"57":[77,172],"patients":[80],"who":[81,104],"were":[82,98,111,125],"at":[83],"increased":[84],"risk":[85],"for":[86,191],"having":[87],"inherited":[88,162],"susceptibility.":[90],"Patients":[91],"known":[93],"MSH2":[94],"or":[95],"MSH6":[96],"excluded":[99],"as":[100,102],"well":[101],"those":[103],"had":[105,130],"MLH1-methylated":[106],"tumors.":[107],"Sixteen":[108],"different":[109],"variants":[110],"by":[113],"single-strand":[114],"conformational":[115],"variant":[116,135],"analysis.":[117,158],"Of":[118],"12":[120],"missense":[121,134,163,166,186],"changes":[122],"identified,":[123],"three":[124],"mutations.":[127],"One":[128],"patient":[129,181],"loss":[137],"heterozygosity":[139],"(LOH)":[140],"her":[142],"specimen.":[144],"There":[145],"no":[147],"evidence":[148],"promoter":[151],"methylation":[152],"based":[153],"combined":[155],"bisulfite":[156],"restriction":[157],"The":[159],"identification":[160],"variants,":[164],"(present":[168],"3":[170],"tumors),":[173],"LOH":[175],"change":[187],"suggest":[188]},"counts_by_year":[{"year":2026,"cited_by_count":3},{"year":2025,"cited_by_count":3},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"year":2021,"cited_by_count":4},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":1},{"year":2017,"cited_by_count":1},{"year":2015,"cited_by_count":4},{"year":2014,"cited_by_count":3},{"year":2013,"cited_by_count":1},{"year":2012,"cited_by_count":1}],"updated_date":"2026-11-01T11:40:01.658920","created_date":"2016-06-24T00:00:00"}