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    No difference in penetrance between truncating and missense/aberrant splicing pathogenic variants in MLH1 and MSH2: a prospective Lynch syndrome database study

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    Authors
    Dominguez-Valentin, M.
    Plazzer, J. P.
    Sampson, J. R.
    Engel, C.
    Aretz, S.
    Jenkins, M. A.
    Sunde, L.
    Bernstein, I.
    Capella, G.
    Balaguer, F.
    Macrae, F.
    Winship, I. M.
    Thomas, H.
    Evans, D. G.
    Burn, J.
    Greenblatt, M.
    de Vos Tot Nederveen Cappel, W. H.
    Sijmons, R. H.
    Nielsen, M.
    Bertario, L.
    Bonanni, B.
    Tibiletti, M. G.
    Cavestro, G. M.
    Lindblom, A.
    Valle, A. D.
    Lopez-Kostner, F.
    Alvarez, K.
    Gluck, N.
    Katz, L.
    Heinimann, K.
    Vaccaro, C. A.
    Nakken, S.
    Hovig, E.
    Green, K.
    Lalloo, F.
    Hill, J.
    Vasen, H. F. A.
    Perne, C.
    Büttner, R.
    Görgens, H.
    Holinski-Feder, E.
    Morak, M.
    Holzapfel, S.
    Hüneburg, R.
    von Knebel Doeberitz, M.
    Loeffler, M.
    Rahner, N.
    Weitz, J.
    Steinke-Lange, V.
    Schmiegel, W.
    Vangala, D.
    Crosbie, Emma J
    Pineda, M.
    Navarro, M.
    Brunet, J.
    Moreira, L.
    Sánchez, A.
    Serra-Burriel, M.
    Mints, M.
    Kariv, R.
    Rosner, G.
    Piñero, T. A.
    Pavicic, W. H.
    Kalfayan, P.
    Broeke, S. W. T.
    Mecklin, J. P.
    Pylvänäinen, K.
    Renkonen-Sinisalo, L.
    Lepistö, A.
    Peltomäki, P.
    Hopper, J. L.
    Win, A. K.
    Buchanan, D. D.
    Lindor, N. M.
    Gallinger, S.
    Marchand, L. L.
    Newcomb, P. A.
    Figueiredo, J. C.
    Thibodeau, S. N.
    Therkildsen, C.
    Hansen, T. V. O.
    Lindberg, L.
    Rødland, E. A.
    Neffa, F.
    Esperon, P.
    Tjandra, D.
    Möslein, G.
    Seppälä, T. T
    Møller, P.
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    Affiliation
    Department of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, 0379 Oslo, Norway.
    Issue Date
    2021
    
    Metadata
    Show full item record
    Abstract
    Background: Lynch syndrome is the most common genetic predisposition for hereditary cancer. Carriers of pathogenic changes in mismatch repair (MMR) genes have an increased risk of developing colorectal (CRC), endometrial, ovarian, urinary tract, prostate, and other cancers, depending on which gene is malfunctioning. In Lynch syndrome, differences in cancer incidence (penetrance) according to the gene involved have led to the stratification of cancer surveillance. By contrast, any differences in penetrance determined by the type of pathogenic variant remain unknown. Objective: To determine cumulative incidences of cancer in carriers of truncating and missense or aberrant splicing pathogenic variants of the MLH1 and MSH2 genes. Methods: Carriers of pathogenic variants of MLH1 (path_MLH1) and MSH2 (path_MSH2) genes filed in the Prospective Lynch Syndrome Database (PLSD) were categorized as truncating or missense/aberrant splicing according to the InSiGHT criteria for pathogenicity. Results: Among 5199 carriers, 1045 had missense or aberrant splicing variants, and 3930 had truncating variants. Prospective observation years for the two groups were 8205 and 34,141 years, respectively, after which there were no significant differences in incidences for cancer overall or for colorectal cancer or endometrial cancers separately. Conclusion: Truncating and missense or aberrant splicing pathogenic variants were associated with similar average cumulative incidences of cancer in carriers of path MLH1 and path_MSH2.
    Citation
    Dominguez-Valentin M, Plazzer J-P, Sampson JR, Engel C, Aretz S, Jenkins MA, et al. No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study. JCM. 2021 Jun 28;10(13):2856.
    Journal
    Journal of Clinical Medicine
    URI
    http://hdl.handle.net/10541/624491
    DOI
    10.3390/jcm10132856
    PubMed ID
    34203177
    Additional Links
    https://dx.doi.org/10.3390/jcm10132856
    Type
    Article
    Language
    en
    ae974a485f413a2113503eed53cd6c53
    10.3390/jcm10132856
    Scopus Count
    Collections
    All Paterson Institute for Cancer Research

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