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@article{Moller:2022:10.1186/s13053-022-00241-1,
author = {Moller, P and Seppala, T and Dowty, JG and Haupt, S and Dominguez-Valentin, M and Sunde, L and Bernstein, I and Engel, C and Aretz, S and Nielsen, M and Capella, G and Evans, DG and Burn, J and Holinski-Feder, E and Bertario, L and Bonanni, B and Lindblom, A and Levi, Z and Macrae, F and Winship, I and Plazzer, J-P and Sijmons, R and Laghi, L and Della, Valle A and Heinimann, K and Half, E and Lopez-Koestner, F and Alvarez-Valenzuela, K and Scott, RJ and Katz, L and Laish, I and Vainer, E and Vaccaro, CA and Carraro, DM and Gluck, N and Abu-Freha, N and Stakelum, A and Kennelly, R and Winter, D and Rossi, BM and Greenblatt, M and Bohorquez, M and Sheth, H and Tibiletti, MG and Lino-Silva, LS and Horisberger, K and Portenkirchner, C and Nascimento, I and Rossi, NT and da, Silva LA and Thomas, H and Zarand, A and Mecklin, J-P and Pylvanainen, K and Renkonen-Sinisalo, L and Lepisto, A and Peltomaki, P and Therkildsen, C and Lindberg, LJ and Thorlacius-Ussing, O and von, Knebel Doeberitz M},
doi = {10.1186/s13053-022-00241-1},
journal = {Hereditary Cancer in Clinical Practice},
pages = {1--11},
title = {Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium},
url = {http://dx.doi.org/10.1186/s13053-022-00241-1},
volume = {20},
year = {2022}
}

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TY  - JOUR
AB  - ObjectiveTo 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.MethodsCRC 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.ResultsIn 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.ConclusionsProspectively 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.
AU  - Moller,P
AU  - Seppala,T
AU  - Dowty,JG
AU  - Haupt,S
AU  - Dominguez-Valentin,M
AU  - Sunde,L
AU  - Bernstein,I
AU  - Engel,C
AU  - Aretz,S
AU  - Nielsen,M
AU  - Capella,G
AU  - Evans,DG
AU  - Burn,J
AU  - Holinski-Feder,E
AU  - Bertario,L
AU  - Bonanni,B
AU  - Lindblom,A
AU  - Levi,Z
AU  - Macrae,F
AU  - Winship,I
AU  - Plazzer,J-P
AU  - Sijmons,R
AU  - Laghi,L
AU  - Della,Valle A
AU  - Heinimann,K
AU  - Half,E
AU  - Lopez-Koestner,F
AU  - Alvarez-Valenzuela,K
AU  - Scott,RJ
AU  - Katz,L
AU  - Laish,I
AU  - Vainer,E
AU  - Vaccaro,CA
AU  - Carraro,DM
AU  - Gluck,N
AU  - Abu-Freha,N
AU  - Stakelum,A
AU  - Kennelly,R
AU  - Winter,D
AU  - Rossi,BM
AU  - Greenblatt,M
AU  - Bohorquez,M
AU  - Sheth,H
AU  - Tibiletti,MG
AU  - Lino-Silva,LS
AU  - Horisberger,K
AU  - Portenkirchner,C
AU  - Nascimento,I
AU  - Rossi,NT
AU  - da,Silva LA
AU  - Thomas,H
AU  - Zarand,A
AU  - Mecklin,J-P
AU  - Pylvanainen,K
AU  - Renkonen-Sinisalo,L
AU  - Lepisto,A
AU  - Peltomaki,P
AU  - Therkildsen,C
AU  - Lindberg,LJ
AU  - Thorlacius-Ussing,O
AU  - von,Knebel Doeberitz M
AU  - Loeffler,M
AU  - Rahner,N
AU  - Steinke-Lange,V
AU  - Schmiegel,W
AU  - Vangala,D
AU  - Perne,C
AU  - Hueneburg,R
AU  - de,Vargas AF
AU  - Latchford,A
AU  - Gerdes,A-M
AU  - Backman,A-S
AU  - Guillen-Ponce,C
AU  - Snyder,C
AU  - Lautrup,CK
AU  - Amor,D
AU  - Palmero,E
AU  - Stoffel,E
AU  - Duijkers,F
AU  - Hall,MJ
AU  - Hampel,H
AU  - Williams,H
AU  - Okkels,H
AU  - Lubinski,J
AU  - Reece,J
AU  - Ngeow,J
AU  - Guillem,JG
AU  - Arnold,J
AU  - Wadt,K
AU  - Monahan,K
AU  - Senter,L
AU  - Rasmussen,LJ
AU  - van,Hest LP
AU  - Ricciardiello,L
AU  - Kohonen-Corish,MRJ
AU  - Ligtenberg,MJL
AU  - Southey,M
AU  - Aronson,M
AU  - Zahary,MN
AU  - Samadder,NJ
AU  - Poplawski,N
AU  - Hoogerbrugge,N
AU  - Morrison,PJ
AU  - James,P
AU  - Lee,G
AU  - Chen-Shtoyerman,R
AU  - Ankathil,R
AU  - Pai,R
AU  - Ward,R
AU  - Parry,S
AU  - Debniak,T
AU  - John,T
AU  - van,Overeem Hansen T
AU  - Caldes,T
AU  - Yamaguchi,T
AU  - Barca-Tierno,V
AU  - Garre,P
AU  - Cavestro,GM
AU  - Weitz,J
AU  - Redler,S
AU  - Buettner,R
AU  - Heuveline,V
AU  - Hopper,JL
AU  - Win,AK
AU  - Lindor,N
AU  - Gallinger,S
AU  - Le,Marchand L
AU  - Newcomb,PA
AU  - Figueiredo,J
AU  - Buchanan,DD
AU  - Thibodeau,SN
AU  - ten,Broeke SW
AU  - Hovig,E
AU  - Nakken,S
AU  - Pineda,M
AU  - Duenas,N
AU  - Brunet,J
AU  - Green,K
AU  - Lalloo,F
AU  - Newton,K
AU  - Crosbie,EJ
AU  - Mints,M
AU  - Tjandra,D
AU  - Neffa,F
AU  - Esperon,P
AU  - Kariv,R
AU  - Rosner,G
AU  - Pavicic,WH
AU  - Kalfayan,P
AU  - Torrezan,GT
AU  - Bassaneze,T
AU  - Martin,C
AU  - Moslein,G
AU  - Ahadova,A
AU  - Kloor,M
AU  - Sampson,JR
AU  - Jenkins,MA
DO  - 10.1186/s13053-022-00241-1
EP  - 11
PY  - 2022///
SN  - 1731-2302
SP  - 1
TI  - Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium
T2  - Hereditary Cancer in Clinical Practice
UR  - http://dx.doi.org/10.1186/s13053-022-00241-1
UR  - https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000862552700001&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=1ba7043ffcc86c417c072aa74d649202
UR  - https://hccpjournal.biomedcentral.com/articles/10.1186/s13053-022-00241-1
UR  - http://hdl.handle.net/10044/1/100509
VL  - 20
ER  -

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