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    Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium

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    Authors
    Møller, P.
    Seppälä, T.
    Dowty, J. G.
    Haupt, S.
    Dominguez-Valentin, M.
    Sunde, L.
    Bernstein, I.
    Engel, C.
    Aretz, S.
    Nielsen, M.
    Capella, G.
    Evans, D. G.
    Burn, J.
    Holinski-Feder, E.
    Bertario, L.
    Bonanni, B.
    Lindblom, A.
    Levi, Z.
    Macrae, F.
    Winship, I.
    Plazzer, J. P.
    Sijmons, R.
    Laghi, L.
    Valle, A. D.
    Heinimann, K.
    Half, E.
    Lopez-Koestner, F.
    Alvarez-Valenzuela, K.
    Scott, R. J.
    Katz, L.
    Laish, I.
    Vainer, E.
    Vaccaro, C. A.
    Carraro, D. M.
    Gluck, N.
    Abu-Freha, N.
    Stakelum, A.
    Kennelly, R.
    Winter, D.
    Rossi, B. M.
    Greenblatt, M.
    Bohorquez, M.
    Sheth, H.
    Tibiletti, M. G.
    Lino-Silva, L. S.
    Horisberger, K.
    Portenkirchner, C.
    Nascimento, I.
    Rossi, N. T.
    da Silva, L. A.
    Thomas, H.
    Zaránd, A.
    Mecklin, J. P.
    Pylvänäinen, K.
    Renkonen-Sinisalo, L.
    Lepisto, A.
    Peltomäki, P.
    Therkildsen, C.
    Lindberg, L. J.
    Thorlacius-Ussing, O.
    von Knebel Doeberitz, M.
    Loeffler, M.
    Rahner, N.
    Steinke-Lange, V.
    Schmiegel, W.
    Vangala, D.
    Perne, C.
    Hüneburg, R.
    de Vargas, A. F.
    Latchford, A.
    Gerdes, A. M.
    Backman, A. S.
    Guillén-Ponce, C.
    Snyder, C.
    Lautrup, C. K.
    Amor, D.
    Palmero, E.
    Stoffel, E.
    Duijkers, F.
    Hall, M. J.
    Hampel, H.
    Williams, H.
    Okkels, H.
    Lubiński, J.
    Reece, J.
    Ngeow, J.
    Guillem, J. G.
    Arnold, J.
    Wadt, K.
    Monahan, K.
    Senter, L.
    Rasmussen, L. J.
    van Hest, L. P.
    Ricciardiello, L.
    Kohonen-Corish, M. R. J.
    Ligtenberg, M. J. L.
    Southey, M.
    Aronson, M.
    Zahary, M. N.
    Samadder, N. J.
    Poplawski, N.
    Hoogerbrugge, N.
    Morrison, P. J.
    James, P.
    Lee, G.
    Chen-Shtoyerman, R.
    Ankathil, R.
    Pai, R.
    Ward, R.
    Parry, S.
    Dębniak, T.
    John, T.
    van Overeem Hansen, T.
    Caldés, T.
    Yamaguchi, T.
    Barca-Tierno, V.
    Garre, P.
    Cavestro, G. M.
    Weitz, J.
    Redler, S.
    Büttner, R.
    Heuveline, V.
    Hopper, J. L.
    Win, A. K.
    Lindor, N.
    Gallinger, S.
    Le Marchand, L.
    Newcomb, P. A.
    Figueiredo, J.
    Buchanan, D. D.
    Thibodeau, S. N.
    Ten Broeke, S. W.
    Hovig, E.
    Nakken, S.
    Pineda, M.
    Dueñas, N.
    Brunet, J.
    Green, K.
    Lalloo, F.
    Newton, K.
    Crosbie, Emma J
    Mints, M.
    Tjandra, D.
    Neffa, F.
    Esperon, P.
    Kariv, R.
    Rosner, G.
    Pavicic, W. H.
    Kalfayan, P.
    Torrezan, G. T.
    Bassaneze, T.
    Martin, C.
    Moslein, G.
    Ahadova, A.
    Kloor, M.
    Sampson, J. R.
    Jenkins, M. A.
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    Affiliation
    Department of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, 0379, Oslo, Norway
    Issue Date
    2022
    
    Metadata
    Show full item record
    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.
    Citation
    Møller P, Seppälä T, Dowty JG, Haupt S, Dominguez-Valentin M, Sunde L, et al. Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium. Hereditary cancer in clinical practice. 2022 Oct 1;20(1):36. PubMed PMID: 36182917. Pubmed Central PMCID: PMC9526951. Epub 2022/10/02. eng.
    Journal
    Hereditary Cancer in Clinical Practice
    URI
    http://hdl.handle.net/10541/625697
    DOI
    10.1186/s13053-022-00241-1
    PubMed ID
    36182917
    Additional Links
    https://dx.doi.org/10.1186/s13053-022-00241-1
    Type
    Article
    Language
    en
    ae974a485f413a2113503eed53cd6c53
    10.1186/s13053-022-00241-1
    Scopus Count
    Collections
    All Paterson Institute for Cancer Research

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