{"id":"https://openalex.org/W2604548070","doi":"https://doi.org/10.1200/jco.2007.25.18_suppl.10528","title":"Cancer penetrance of Lynch syndrome for MSH2 A636P mutation carriers","display_name":"Cancer penetrance of Lynch syndrome for MSH2 A636P mutation carriers","publication_year":2007,"publication_date":"2007-06-20","ids":{"openalex":"https://openalex.org/W2604548070","doi":"https://doi.org/10.1200/jco.2007.25.18_suppl.10528","mag":"2604548070"},"language":"en","primary_location":{"id":"doi:10.1200/jco.2007.25.18_suppl.10528","doi":"https://doi.org/10.1200/jco.2007.25.18_suppl.10528","is_oa":false,"landing_page_url":"https://doi.org/10.1200/jco.2007.25.18_suppl.10528","pdf_url":null,"source":{"id":"https://openalex.org/S15137598","display_name":"Journal of Clinical Oncology","issn_l":"0732-183X","issn":["0732-183X","1527-7755"],"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/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Clinical Oncology","raw_type":"journal-article"},"volume":null,"type":"conference-abstract","indexed_in":["crossref"],"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/A5048013245","display_name":"Victor  Rau Moreno","orcid":"https://orcid.org/0000-0002-2818-5487","observed_orcids":["https://orcid.org/0000-0002-2818-5487"]},"institutions":[{"id":"https://openalex.org/I27837315","display_name":"University of Michigan","ror":"https://ror.org/00jmfr291","country_code":"US","type":"education","lineage":["https://openalex.org/I27837315"]},{"id":"https://openalex.org/I4210113769","display_name":"Carmel Medical Center","ror":"https://ror.org/02cy9a842","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I4210113769"]}],"countries":["IL","US"],"is_corresponding":false,"raw_author_name":"V. Moreno","raw_affiliation_strings":["University of Michigan, Ann Arbor, MI; Carmel Medical Center, Haifa, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Michigan, Ann Arbor, MI; Carmel Medical Center, Haifa, Israel","institution_ids":["https://openalex.org/I27837315","https://openalex.org/I4210113769"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082547550","display_name":"Gad Rennert","orcid":"https://orcid.org/0000-0002-8512-068X","observed_orcids":["https://orcid.org/0000-0002-8512-068X"]},"institutions":[{"id":"https://openalex.org/I27837315","display_name":"University of Michigan","ror":"https://ror.org/00jmfr291","country_code":"US","type":"education","lineage":["https://openalex.org/I27837315"]},{"id":"https://openalex.org/I4210113769","display_name":"Carmel Medical Center","ror":"https://ror.org/02cy9a842","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I4210113769"]}],"countries":["IL","US"],"is_corresponding":false,"raw_author_name":"G. Rennert","raw_affiliation_strings":["University of Michigan, Ann Arbor, MI; Carmel Medical Center, Haifa, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Michigan, Ann Arbor, MI; Carmel Medical Center, Haifa, Israel","institution_ids":["https://openalex.org/I27837315","https://openalex.org/I4210113769"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5070703103","display_name":"Stephen B. Gruber","orcid":"https://orcid.org/0000-0001-8656-7822","observed_orcids":["https://orcid.org/0000-0001-8656-7822"]},"institutions":[{"id":"https://openalex.org/I27837315","display_name":"University of Michigan","ror":"https://ror.org/00jmfr291","country_code":"US","type":"education","lineage":["https://openalex.org/I27837315"]},{"id":"https://openalex.org/I4210113769","display_name":"Carmel Medical Center","ror":"https://ror.org/02cy9a842","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I4210113769"]}],"countries":["IL","US"],"is_corresponding":false,"raw_author_name":"S. B. Gruber","raw_affiliation_strings":["University of Michigan, Ann Arbor, MI; Carmel Medical Center, Haifa, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Michigan, Ann Arbor, MI; Carmel Medical Center, Haifa, Israel","institution_ids":["https://openalex.org/I27837315","https://openalex.org/I4210113769"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":"25","issue":"18_suppl","first_page":"10528","last_page":"10528"},"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/T10261","display_name":"Genetic Associations and Epidemiology","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":0.9700000286102295},{"id":"https://openalex.org/keywords/founder-mutation","display_name":"founder mutation","score":0.9139999747276306},{"id":"https://openalex.org/keywords/cancer-penetrance","display_name":"cancer penetrance","score":0.8220000267028809},{"id":"https://openalex.org/keywords/colorectal-cancer","display_name":"colorectal cancer","score":0.9340000152587891},{"id":"https://openalex.org/keywords/endometrial-cancer","display_name":"endometrial cancer","score":1.0},{"id":"https://openalex.org/keywords/mismatch-repair-genes","display_name":"mismatch repair genes","score":0.7599999904632568},{"id":"https://openalex.org/keywords/ashkenazi-jews","display_name":"Ashkenazi Jews","score":0.8429999947547913},{"id":"https://openalex.org/keywords/cumulative-cancer-risk","display_name":"cumulative cancer risk","score":0.8930000066757202},{"id":"https://openalex.org/keywords/family-history-of-cancer","display_name":"family history of cancer","score":0.7350000143051147},{"id":"https://openalex.org/keywords/hereditary-cancer-susceptibility","display_name":"hereditary cancer predisposition","score":0.5130000114440918}],"concepts":[{"id":"https://openalex.org/C200544954","wikidata":"https://www.wikidata.org/wiki/Q516389","display_name":"Penetrance","level":4,"score":0.8754514455795288},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.7821539640426636},{"id":"https://openalex.org/C2776559941","wikidata":"https://www.wikidata.org/wiki/Q783644","display_name":"Lynch syndrome","level":5,"score":0.7534762620925903},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.6195054650306702},{"id":"https://openalex.org/C121608353","wikidata":"https://www.wikidata.org/wiki/Q12078","display_name":"Cancer","level":2,"score":0.5534376502037048},{"id":"https://openalex.org/C526805850","wikidata":"https://www.wikidata.org/wiki/Q188874","display_name":"Colorectal cancer","level":3,"score":0.5355201959609985},{"id":"https://openalex.org/C2779115348","wikidata":"https://www.wikidata.org/wiki/Q14911688","display_name":"MSH2","level":5,"score":0.5252522826194763},{"id":"https://openalex.org/C72563966","wikidata":"https://www.wikidata.org/wiki/Q1303415","display_name":"Cohort","level":2,"score":0.49205464124679565},{"id":"https://openalex.org/C111425858","wikidata":"https://www.wikidata.org/wiki/Q14911708","display_name":"MLH1","level":5,"score":0.4899539053440094},{"id":"https://openalex.org/C2777088508","wikidata":"https://www.wikidata.org/wiki/Q944777","display_name":"Endometrial cancer","level":3,"score":0.4603666067123413},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.45142027735710144},{"id":"https://openalex.org/C2781179581","wikidata":"https://www.wikidata.org/wiki/Q2857712","display_name":"Family history","level":2,"score":0.42382246255874634},{"id":"https://openalex.org/C143998085","wikidata":"https://www.wikidata.org/wiki/Q162555","display_name":"Oncology","level":1,"score":0.39698854088783264},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.2577052414417267},{"id":"https://openalex.org/C60748783","wikidata":"https://www.wikidata.org/wiki/Q2984243","display_name":"DNA mismatch repair","level":4,"score":0.13379162549972534},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.0903826653957367},{"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/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1200/jco.2007.25.18_suppl.10528","doi":"https://doi.org/10.1200/jco.2007.25.18_suppl.10528","is_oa":false,"landing_page_url":"https://doi.org/10.1200/jco.2007.25.18_suppl.10528","pdf_url":null,"source":{"id":"https://openalex.org/S15137598","display_name":"Journal of Clinical Oncology","issn_l":"0732-183X","issn":["0732-183X","1527-7755"],"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/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Clinical Oncology","raw_type":"journal-article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.98580002784729}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W1979712953","https://openalex.org/W2141866322","https://openalex.org/W2312840436","https://openalex.org/W2141850957","https://openalex.org/W2126781183","https://openalex.org/W2118361311","https://openalex.org/W2232371818","https://openalex.org/W3217736844","https://openalex.org/W4407719362","https://openalex.org/W2303994718"],"abstract_inverted_index":{"10528":[0],"Background:":[1],"Mutations":[2],"in":[3,25,37,50,290],"mismatch":[4,291],"repair":[5,292],"genes":[6],"are":[7],"responsible":[8],"for":[9,251,255,260,298],"Lynch":[10,210,261,281],"syndrome.":[11],"Estimating":[12],"the":[13,41,71,106,184,224,245,299],"penetrance":[14,218],"of":[15,40,59,70,74,80,94,134,143,159,161,190,197,205,217,238,277,302],"cancer":[16,62,81,153,178,207],"related":[17,208,279],"to":[18,187,228,232,243,280,286,313],"MSH2":[19,95,120,266],"A636P,":[20],"a":[21,44,102,132,274],"founder":[22,307],"mutation":[23,34,269],"identified":[24],"Ashkenazi":[26,75,233,306],"Jewish":[27,76],"population,":[28],"has":[29],"clinical":[30],"implications.":[31],"Methods:":[32],"The":[33,157,202,265],"was":[35,88,97,192,199,212],"genotyped":[36],"all":[38,125],"subjects":[39,72,136,165],"MECC":[42],"study,":[43],"population-based":[45],"case-control":[46],"study":[47],"carried":[48],"out":[49],"North":[51],"Israel":[52],"during":[53],"1998\u20132004":[54],"that":[55,196,283],"included":[56],"2,112":[57],"cases":[58],"pathology-confirmed":[60],"colorectal":[61],"(CRC)":[63],"and":[64,84,116,150,175,195,257],"2,060":[65],"population":[66],"controls.":[67],"Approximately":[68],"50%":[69],"were":[73,123,219,226,240,248],"origin.":[77],"Family":[78],"history":[79],"(among":[82],"first":[83,229],"second":[85],"degree":[86,230],"relatives)":[87],"obtained":[89],"by":[90,105],"personal":[91],"interview.":[92],"Penetrance":[93],"A636P":[96,121,267],"estimated":[98],"from":[99],"relatives":[100,130,160,237],"using":[101],"kin-cohort":[103],"approach":[104],"marginal":[107],"maximum":[108],"likelihood":[109],"method,":[110],"estimating":[111],"cumulative":[112,185,203,275],"risk":[113,186,204,276],"among":[114,126],"carriers":[115,122],"noncarriers.":[117],"Results:":[118],"Thirteen":[119],"identified,":[124],"CRC":[127,146,171,191],"cases.":[128],"Their":[129],"formed":[131],"cohort":[133,158],"138":[135,144],"contributing":[137,166],"8,802":[138],"person":[139],"years":[140],"(py);":[141],"14":[142],"had":[145,170],"(173":[147],"per":[148,155,173,180],"100,000)":[149,174],"5":[151],"endometrial":[152,177],"(112":[154],"100,000).":[156,181],"noncarriers":[162],"summed":[163],"46,257":[164],"2.8M":[167],"py;":[168],"582":[169],"(20":[172],"142":[176],"(EC)(10":[179],"For":[182],"carriers,":[183],"age":[188],"70":[189],"0.44":[193],"(0.19\u20130.90)":[194],"EC":[198,256],"0.29":[200],"(0\u20130.84).":[201],"any":[206],"with":[209,273,304],"syndrome":[211,262,282],"0.66":[213],"(0.47\u20130.93).":[214],"These":[215,294],"estimates":[216],"not":[220],"substantially":[221],"modified":[222],"if":[223],"cohorts":[225],"restricted":[227],"relatives,":[231],"Jews,":[234],"or":[235],"when":[236],"controls":[239],"excluded.":[241],"Compared":[242],"noncarriers,":[244],"hazard":[246],"ratios":[247],"28.7":[249],"(2.8\u2013112)":[250],"CRC,":[252],"9.1":[253],"(0\u2013181)":[254],"19":[258],"(6.4\u201350)":[259],"cancers.":[263],"Conclusions:":[264],"missense":[268],"is":[270,284],"highly":[271],"penetrant,":[272],"cancers":[278],"similar":[285],"other":[287],"truncating":[288],"mutations":[289],"genes.":[293],"results":[295],"have":[296],"implications":[297],"tailored":[300],"management":[301],"patients":[303],"this":[305],"mutation.":[308],"No":[309],"significant":[310],"financial":[311],"relationships":[312],"disclose.":[314]},"counts_by_year":[],"updated_date":"2026-10-17T09:40:24.721904","created_date":"2017-04-14T00:00:00"}
