Møller, PålSeppälä, Toni T.Dowty, James G.Haupt, SaskiaDominguez Valentin, MevSunde, LoneBernstein, IngeEngel, ChristophAretz, StefanNielsen, MaartjeCapellá, G. (Gabriel)Amor, DavidSenter, LeighaHoogerbrugge, NicolineRahner, NilsDuijkers, FloorHall, Michael J.Buchanan, Daniel D.Le Marchand, LoïcWin, Aung KoHovig, EivindNakken, SigveHampel, HeatherWilliams, HeinricRasmussen, Lene J.Ricciardiello, LuigiSouthey, MelissaSamadder, N. JewelJames, PaulOkkels, HenrikLubiński, JanReece, JeanetteKalfayan, PabloNgeow, JoanneBassaneze, ThiagoGuillem, Jose G.Ward, RobynAhadova, AyselArnold, JuliePai, Rish K.Jenkins, Mark A.Wadt, KarinAnkathil, RavindranBurn, JohnHolinski Feder, ElkeMonahan, KevinParry, SusanEvans, D. GarethSampson, Julian R.Moslein, GabrielaBonanni, BernardoLindblom, AnnikaDębniak, TadeuszJohn, ThomasBüttner, ReinhardHopper, John L.Gallinger, StevenFigueiredo, JaneTen Broeke, Sanne W.Van Overeem Hansen, ThomasCaldés, TrinidadYamaguchi, TatsuroBarca Tierno, VerónicaGluck, NathanGarre, PilarBrunet, JoanKennelly, RoryCavestro, Giulia MartinaDueñas, NuriaGreenblatt, MarcWeitz, JürgenPineda, MartaLino Silva, Leonardo S.Redler, SilkeGreen, KateSheth, HarshRossi, Benedito MauroStakelum, AinePortenkirchner, CarmenNascimento, IvanaLalloo, FionaNewton, KatieTorrezan, Giovana TardinMartin, ClaudiaKloor, MatthiasThe European Hereditary Tumour Group (ehtg) And The International Mismatch Repair Consortium (imrc)Bertario, LucioCrosbie, Emma J.Mints, MiriamTjandra, DouglasSteinke-Lange, VerenaNeffa, FlorenciaPerne, ClaudiaEsperon, PatriciaWinship, IngridLatchford, AndrewKariv, RevitalMacrae, FinlayGuillén Ponce, CarmenRosner, GuyLevi, ZoharVaccaro, Carlos AlbertoTibiletti, Maria GraziaPavicic, Walter HernánPlazzer, John-PaulSijmons, RolfBackman, Ann SofieDe Vargas, Aída FalcónVangala, DeepakLautrup, Charlotte K.Laghi, LuigiValle, Adriana DellaCarraro, Dirce MariaAbu Freha, NaimWinter, DesBohorquez, MabelHorisberger, KarolineHeinimann, KarlHalf, ElizabethLopez Köstner, FranciscoAlvarez Valenzuela, KarinVan Hest, Liselotte P.Scott, Rodney J.Thomas, HuwLigtenberg, Marjolijn J. L.Katz, LiorDa Silva, Leandro ApolinárioZahary, Mohd N.Laish, IdoRossi, Norma TeresaMorrison, Patrick J.Vainer, ElezZaránd, AttilaPoplawski, NicolaAronson, MelyssaKohonen Corish, Maija R. J.Lee, GrantChen Shtoyerman, RakefetMecklin, Jukka PekkaPylvänäinen, KirsiSchmiegel, WolffHüneburg, RobertGerdes, Anne MarieSnyder, CarrieRenkonen Sinisalo, LauraLepisto, AnnaPeltomäki, PäiviTherkildsen, ChristinaHeuveline, VincentLindberg, Lars JoachimLindor, NoralaneThorlacius Ussing, OleStoffel, ElenaNewcomb, Polly A.Von Knebel Doeberitz, MagnusPalmero, EdenirThibodeau, Stephen N.Loeffler, Markus2022-10-252022-10-252022-10-011897-4287https://hdl.handle.net/2445/190189Objective 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. Methods 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 Lynch syndrome probands. Results In the PLSD, 8,153 subjects had follow-up colonoscopy surveillance for a total of 67,604 years and 578 carriers had CRC diagnosed. Average cumulative incidences of CRC in path_MLH1 carriers at 70 years of age were 52% in males and 41% in females; for path_MSH2 50% and 39%; for path_MSH6 13% and 17% and for path_PMS2 11% and 8%. In contrast, in the IMRC cohort, corresponding cumulative incidences were 40% and 27%; 34% and 23%; 16% and 8% and 7% and 6%. Comparing just the European carriers in the two series gave similar findings. Numbers in the PLSD series did not allow comparisons of carriers from other continents separately. Cumulative incidences at 25 years were < 1% in all retrospective groups. Conclusions Prospectively observed CRC incidences (PLSD) in path_MLH1 and path_MSH2 carriers undergoing colonoscopy surveillance and polypectomy were higher than in the retrospective (IMRC) series, and were not reduced in path_MSH6 carriers. These findings were the opposite to those expected. CRC point incidence before 50 years of age was reduced in path_PMS2 carriers subjected to colonoscopy, but not significantly so.11 p.application/pdfengcc by (c) Møller, Pål et al., 2022http://creativecommons.org/licenses/by/3.0/es/ColonoscòpiaEpidemiologiaColonoscopyEpidemiologyinfo:eu-repo/semantics/article2022-10-14info:eu-repo/semantics/openAccess36182917