Moller, Pal, Seppala, Toni, Dowty, James G., Haupt, Saskia ORCID: 0000-0001-7537-9439, Dominguez-Valentin, Mev, Sunde, Lone ORCID: 0000-0002-8479-165X, Bernstein, Inge, Engel, Christoph ORCID: 0000-0002-7247-282X, Aretz, Stefan, Nielsen, Maartje, Capella, Gabriel, Evans, Dafydd Gareth, Burn, John, Holinski-Feder, Elke, Bertario, Lucio, Bonanni, Bernardo, Lindblom, Annika, Levi, Zohar, Macrae, Finlay, Winship, Ingrid, Plazzer, John-Paul, Sijmons, Rolf, Laghi, Luigi ORCID: 0000-0003-4187-1059, Della Valle, Adriana, Heinimann, Karl, Half, Elizabeth, Lopez-Koestner, Francisco, Alvarez-Valenzuela, Karin, Scott, Rodney J., Katz, Lior, Laish, Ido, Vainer, Elez, Vaccaro, Carlos Alberto, Carraro, Dirce Maria, Gluck, Nathan, Abu-Freha, Naim, Stakelum, Aine, Kennelly, Rory, Winter, Des, Rossi, Benedito Mauro, Greenblatt, Marc, Bohorquez, Mabel, Sheth, Harsh ORCID: 0000-0001-9626-0971, Tibiletti, Maria Grazia, Lino-Silva, Leonardo S., Horisberger, Karoline, Portenkirchner, Carmen, Nascimento, Ivana, Rossi, Norma Teresa, da Silva, Leandro Apolinario, Thomas, Huw, Zarand, Attila, Mecklin, Jukka-Pekka ORCID: 0000-0003-4895-2249, Pylvanainen, Kirsi, Renkonen-Sinisalo, Laura, Lepisto, Anna, Peltomaki, Paivi, Therkildsen, Christina, Lindberg, Lars Joachim, Thorlacius-Ussing, Ole ORCID: 0000-0003-4963-1551, von Knebel Doeberitz, Magnus, Loeffler, Markus, Rahner, Nils, Steinke-Lange, Verena, Schmiegel, Wolff, Vangala, Deepak, Perne, Claudia, Hueneburg, Robert, de Vargas, Aida Falcon, Latchford, Andrew, Gerdes, Anne-Marie, Backman, Ann-Sofie ORCID: 0000-0002-6054-6692, Guillen-Ponce, Carmen, Snyder, Carrie, Lautrup, Charlotte K., Amor, David ORCID: 0000-0001-7191-8511, Palmero, Edenir ORCID: 0000-0003-1904-2158, Stoffel, Elena, Duijkers, Floor, Hall, Michael J., Hampel, Heather, Williams, Heinric, Okkels, Henrik, Lubinski, Jan, Reece, Jeanette, Ngeow, Joanne, Guillem, Jose G., Arnold, Julie, Wadt, Karin, Monahan, Kevin ORCID: 0000-0002-7918-4003, Senter, Leigha, Rasmussen, Lene J., van Hest, Liselotte P., Ricciardiello, Luigi, Kohonen-Corish, Maija R. J., Ligtenberg, Marjolijn J. L., Southey, Melissa, Aronson, Melyssa, Zahary, Mohd N., Samadder, N. Jewel, Poplawski, Nicola, Hoogerbrugge, Nicoline, Morrison, Patrick J., James, Paul, Lee, Grant, Chen-Shtoyerman, Rakefet, Ankathil, Ravindran, Pai, Rish, Ward, Robyn, Parry, Susan, Debniak, Tadeusz, John, Thomas, van Overeem Hansen, Thomas, Caldes, Trinidad, Yamaguchi, Tatsuro ORCID: 0000-0001-8454-1995, Barca-Tierno, Veronica, Garre, Pilar, Cavestro, Giulia Martina, Weitz, Juergen, Redler, Silke, Buettner, Reinhard, Heuveline, VincentZ, Hopper, John L., Win, Aung Ko, Lindor, Noralane, Gallinger, Steven, Le Marchand, Loic, Newcomb, Polly A., Figueiredo, Jane, Buchanan, Daniel D., Thibodeau, Stephen N., ten Broeke, Sanne W., Hovig, Eivind, Nakken, Sigve ORCID: 0000-0001-8468-2050, Pineda, Marta, Duenas, Nuria, Brunet, Joan ORCID: 0000-0003-1945-3512, Green, Kate, Lalloo, Fiona, Newton, Katie, Crosbie, Emma J., Mints, Miriam, Tjandra, Douglas, Neffa, Florencia, Esperon, Patricia, Kariv, Revital, Rosner, Guy, Pavicic, Walter Hernan, Kalfayan, Pablo, Torrezan, Giovana Tardin, Bassaneze, Thiago, Martin, Claudia, Moslein, Gabriela, Ahadova, Aysel, Kloor, Matthias, Sampson, Julian R. and Jenkins, Mark A. (2022). Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium. Hered. Cancer Clin. Pract., 20 (1). LONDON: BMC. ISSN 1897-4287

Full text not available from this repository.

Abstract

Objective 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.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Moller, PalUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Seppala, ToniUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Dowty, James G.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Haupt, SaskiaUNSPECIFIEDorcid.org/0000-0001-7537-9439UNSPECIFIED
Dominguez-Valentin, MevUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sunde, LoneUNSPECIFIEDorcid.org/0000-0002-8479-165XUNSPECIFIED
Bernstein, IngeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Engel, ChristophUNSPECIFIEDorcid.org/0000-0002-7247-282XUNSPECIFIED
Aretz, StefanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nielsen, MaartjeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Capella, GabrielUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Evans, Dafydd GarethUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Burn, JohnUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Holinski-Feder, ElkeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bertario, LucioUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bonanni, BernardoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lindblom, AnnikaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Levi, ZoharUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Macrae, FinlayUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Winship, IngridUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Plazzer, John-PaulUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sijmons, RolfUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Laghi, LuigiUNSPECIFIEDorcid.org/0000-0003-4187-1059UNSPECIFIED
Della Valle, AdrianaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Heinimann, KarlUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Half, ElizabethUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lopez-Koestner, FranciscoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Alvarez-Valenzuela, KarinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Scott, Rodney J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Katz, LiorUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Laish, IdoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Vainer, ElezUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Vaccaro, Carlos AlbertoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Carraro, Dirce MariaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gluck, NathanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Abu-Freha, NaimUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Stakelum, AineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kennelly, RoryUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Winter, DesUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rossi, Benedito MauroUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Greenblatt, MarcUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bohorquez, MabelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sheth, HarshUNSPECIFIEDorcid.org/0000-0001-9626-0971UNSPECIFIED
Tibiletti, Maria GraziaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lino-Silva, Leonardo S.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Horisberger, KarolineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Portenkirchner, CarmenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nascimento, IvanaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rossi, Norma TeresaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
da Silva, Leandro ApolinarioUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Thomas, HuwUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zarand, AttilaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mecklin, Jukka-PekkaUNSPECIFIEDorcid.org/0000-0003-4895-2249UNSPECIFIED
Pylvanainen, KirsiUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Renkonen-Sinisalo, LauraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lepisto, AnnaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Peltomaki, PaiviUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Therkildsen, ChristinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lindberg, Lars JoachimUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Thorlacius-Ussing, OleUNSPECIFIEDorcid.org/0000-0003-4963-1551UNSPECIFIED
von Knebel Doeberitz, MagnusUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Loeffler, MarkusUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rahner, NilsUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Steinke-Lange, VerenaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schmiegel, WolffUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Vangala, DeepakUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Perne, ClaudiaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hueneburg, RobertUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
de Vargas, Aida FalconUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Latchford, AndrewUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gerdes, Anne-MarieUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Backman, Ann-SofieUNSPECIFIEDorcid.org/0000-0002-6054-6692UNSPECIFIED
Guillen-Ponce, CarmenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Snyder, CarrieUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lautrup, Charlotte K.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Amor, DavidUNSPECIFIEDorcid.org/0000-0001-7191-8511UNSPECIFIED
Palmero, EdenirUNSPECIFIEDorcid.org/0000-0003-1904-2158UNSPECIFIED
Stoffel, ElenaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Duijkers, FloorUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hall, Michael J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hampel, HeatherUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Williams, HeinricUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Okkels, HenrikUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lubinski, JanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Reece, JeanetteUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ngeow, JoanneUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Guillem, Jose G.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Arnold, JulieUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wadt, KarinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Monahan, KevinUNSPECIFIEDorcid.org/0000-0002-7918-4003UNSPECIFIED
Senter, LeighaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rasmussen, Lene J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
van Hest, Liselotte P.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ricciardiello, LuigiUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kohonen-Corish, Maija R. J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ligtenberg, Marjolijn J. L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Southey, MelissaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Aronson, MelyssaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zahary, Mohd N.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Samadder, N. JewelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Poplawski, NicolaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hoogerbrugge, NicolineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Morrison, Patrick J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
James, PaulUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lee, GrantUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Chen-Shtoyerman, RakefetUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ankathil, RavindranUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Pai, RishUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ward, RobynUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Parry, SusanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Debniak, TadeuszUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
John, ThomasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
van Overeem Hansen, ThomasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Caldes, TrinidadUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Yamaguchi, TatsuroUNSPECIFIEDorcid.org/0000-0001-8454-1995UNSPECIFIED
Barca-Tierno, VeronicaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Garre, PilarUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Cavestro, Giulia MartinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Weitz, JuergenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Redler, SilkeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Buettner, ReinhardUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Heuveline, VincentZUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hopper, John L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Win, Aung KoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lindor, NoralaneUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gallinger, StevenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Le Marchand, LoicUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Newcomb, Polly A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Figueiredo, JaneUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Buchanan, Daniel D.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Thibodeau, Stephen N.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
ten Broeke, Sanne W.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hovig, EivindUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nakken, SigveUNSPECIFIEDorcid.org/0000-0001-8468-2050UNSPECIFIED
Pineda, MartaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Duenas, NuriaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Brunet, JoanUNSPECIFIEDorcid.org/0000-0003-1945-3512UNSPECIFIED
Green, KateUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lalloo, FionaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Newton, KatieUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Crosbie, Emma J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mints, MiriamUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tjandra, DouglasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Neffa, FlorenciaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Esperon, PatriciaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kariv, RevitalUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rosner, GuyUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Pavicic, Walter HernanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kalfayan, PabloUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Torrezan, Giovana TardinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bassaneze, ThiagoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Martin, ClaudiaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Moslein, GabrielaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ahadova, AyselUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kloor, MatthiasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sampson, Julian R.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Jenkins, Mark A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-699663
DOI: 10.1186/s13053-022-00241-1
Journal or Publication Title: Hered. Cancer Clin. Pract.
Volume: 20
Number: 1
Date: 2022
Publisher: BMC
Place of Publication: LONDON
ISSN: 1897-4287
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
CLINICAL MANAGEMENT; GERMLINE MUTATIONS; GUIDELINES; CARRIERSMultiple languages
OncologyMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/69966

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