biostudies-literatureMoller PJane and Aatos Erkko FoundationCancer Council NSWRelander FoundationG Capellá team: funded by the Spanish Ministry of Economy and Competitiveness and co-funded by FEDER funds -a way to build EuropeDan L. iCAN Digital Precision Cancer Medicine FlagshipDuncan Cancer Center, Baylor College of Medicinewe thank LA-GETH (Latin America - Grupo de Estudios de Tumores Hereditarios) for the Institutional supportAcademy of FinlandEuropean Reference Network on Genetic Tumor Risk SyndromesCancer Research U.K. catalyst award: Aspirin for Cancer Prevention AsCaPRéseau de recherche portant sur les interventions en sciences infirmières du QuébecEuropean Reference Network on Genetic Tumor Risk Syndromes (ERN GENTURIS)European Reference Network on Genetic Tumor Risk Syndromes (ERN GENTURISHCRW via Wales Gene ParkFP7 Regions of KnowledgeInstituto Nacional de Ciência e TecnologiNational Institute of Science and Technology in Oncogenomics and Therapeutic Innovationa de Gestão da Inovação em Doenças NegligenciadasKreftforeningen Norwegian Cancer SocietyManchester Biomedical Research CentreRéseau de recherche portant sur les interventions en sciences infirmières du QuébecEuropean Reference Network on Genetic Tumor Risk SyndromesSigrid Juséliuksen SäätiöGujarat State Biotechnology Mission grantEmil Aaltonen FoundationDeutsche KrebshilfeSupport Program for Longyuan Youth and Fundamental Research Funds for the Universities of Gansu ProvinceFunded by the National Institute of Science and Technology in Oncogenomics and Therapeutic InnovationJane ja Aatos Erkon SäätiöCancer Society FinlandEuropean Reference Network on Genetic Tumor Risk Syndromes (ERN GENTURIS)Finnish medical foundation36https://www.ebi.ac.uk/biostudies/studies/S-EPMC9526951biostudies-literatureUnknown20(1)<h4>Objective</h4>To compare colorectal cancer (CRC) incidences in carriers of pathogenic variants of the MMR genes in the PLSD and IMRC cohorts, of which only the former included mandatory colonoscopy surveillance for all participants.<h4>Methods</h4>CRC incidences were calculated in an intervention group comprising a cohort of confirmed carriers of pathogenic or likely pathogenic variants in mismatch repair genes (path_MMR) followed prospectively by the Prospective Lynch Syndrome Database (PLSD). All had colonoscopy surveillance, with polypectomy when polyps were identified. Comparison was made with a retrospective cohort reported by the International Mismatch Repair Consortium (IMRC). This comprised confirmed and inferred path_MMR carriers who were first- or second-degree relatives of LHereditary cancer in clinical practiceColorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium.PMC9526951FAPESP 2014/509443-1, CNPq 465682/2014-6 and CAPES - 88887.136405/2017-00FAPESP 2014/509443-1, CNPq 465682/2014-6 and CAPES - 88887.136405/2017-00Project ID No 739547contract 194751-2017GSBTM/JD(R&D)/604/2018-2019/7CRUK A24991GSBTM/JD(R&amp;D)/604/2018-2019/7RG19-01IS-BRC-1215-20007(grant PID2019-111254RB-I00) and CIBERONC (CB16/12/00234)Williams HLigtenberg MJLSamadder NJLubinski JJohn TNakken SLe Marchand LSunde LPortenkirchner CNgeow JBarca-Tierno VJames PTibiletti MGChen-Shtoyerman RBurn JKatz LLindberg LJLepisto ANewton KBertario LLevi ZScott RJMonahan KBernstein IPlazzer JPBohorquez MSijmons RVaccaro CAPai RDowty JGRicciardiello Lde Vargas AFDuijkers Fda Silva LASnyder CKalfayan PLee GThomas HSenter LParry SKennelly RKohonen-Corish MRJKloor MPerne COkkels HGallinger SEngel CLindor NBonanni BGuillen-Ponce CNewcomb PANeffa FWadt KHaupt SLopez-Koestner FHampel HPeltomaki PWin AKGluck NRosner GDuenas NThorlacius-Ussing OPavicic WHAnkathil RLindblom ARossi NTLaish IPylvanainen KPalmero EGreen KHoogerbrugge NCavestro GMZarand AMorrison PJZahary MNEsperon PWeitz JVangala Dvan Overeem Hansen TRedler STorrezan GTValle ADSampson JRMoslein GGarre PSchmiegel WCrosbie EJEuropean Hereditary Tumour Group (EHTG) and the International Mismatch Repair Consortium (IMRC)Amor DVainer EHolinski-Feder EWinship IGreenblatt MGuillem JGEvans DGRenkonen-Sinisalo LTherkildsen CAhadova ADominguez-Valentin MAbu-Freha NRahner NMoller PReece JHovig ENascimento IButtner RKariv Rvon Knebel Doeberitz MAretz SHall MJMints MTen Broeke SWMacrae FLino-Silva LSThibodeau SNCarraro DMStoffel EArnold JPineda Mvan Hest LPCapella GBackman ASTjandra DRasmussen LJSheth HWard RYamaguchi TSteinke-Lange VBrunet JAlvarez-Valenzuela KBuchanan DDLalloo FNielsen MPoplawski NHalf ELoeffler MFigueiredo JLaghi LHorisberger KSouthey MHeuveline VRossi BMStakelum ALautrup CKDebniak TMartin CGerdes AMSeppala TBassaneze THeinimann KWinter DHopper JLLatchford AHuneburg RAronson MJenkins MAMecklin JPCaldes TfalseColorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium.<h4>Objective</h4>To compare colorectal cancer (CRC) incidences in carriers of pathogenic variants of the MMR genes in the PLSD and IMRC cohorts, of which only the former included mandatory colonoscopy surveillance for all participants.<h4>Methods</h4>CRC incidences were calculated in an intervention group comprising a cohort of confirmed carriers of pathogenic or likely pathogenic variants in mismatch repair genes (path_MMR) followed prospectively by the Prospective Lynch Syndrome Database (PLSD). All had colonoscopy surveillance, with polypectomy when polyps were identified. Comparison was made with a retrospective cohort reported by the International Mismatch Repair Consortium (IMRC). This comprised confirmed and inferred path_MMR carriers who were first- or second-degree relatives of L2022-01-01T00:00:00Z2022 Oct2025-04-22T03:44:34.648Z2025-02-19T00:23:35.748ZS-EPMC95269513618291710.1186/s13053-022-00241-1