No difference in penetrance between truncating and missense/aberrant splicing pathogenic variants in mlh1 and msh2: A prospective lynch syndrome database study
dc.date.accessioned | 2022-04-01T17:21:20Z | |
dc.date.available | 2022-04-01T17:21:20Z | |
dc.date.created | 2022-02-22T18:04:55Z | |
dc.date.issued | 2021 | |
dc.identifier.citation | Dominguez-Valentin, Mev Plazzer, John-Paul Sampson, Julian R. Engel, Christoph Aretz, Stefan Jenkins, Mark A. Sunde, Lone Bernstein, Inge Capella, Gabriel Balaguer, Francesc Macrae, Finlay Winship, Ingrid M. Thomas, Huw Evans, Dafydd Gareth Burn, John Greenblatt, Marc de Vos tot Nederveen Cappel, Wouter H. Sijmons, Rolf H. Nielsen, Maartje Bertario, Lucio Bonanni, Bernardo Tibiletti, Maria Grazia Cavestro, Giulia Martina Lindblom, Annika Della Valle, Adriana Lopez-Kostner, Francisco Alvarez, Karin Gluck, Nathan Katz, Lior Heinimann, Karl Vaccaro, Carlos Alberto Nakken, Sigve Hovig, Eivind Green, Kate Lalloo, Fiona Hill, James Vasen, Hans F. A. Perne, Claudia Büttner, Reinhard Görgens, Heike Holinski-Feder, Elke Morak, Monika Holzapfel, Stefanie Hüneburg, Robert Doeberitz, Magnus von Knebel Loeffler, Markus Rahner, Nils Weitz, Jürgen Steinke-Lange, Verena Schmiegel, Wolff Vangala, Deepak Crosbie, Emma J. Pineda, Marta Navarro, Matilde Brunet, Joan Moreira, Leticia Sánchez, Ariadna Serra-Burriel, Miquel Mints, Miriam Kariv, Revital Rosner, Guy Piñero, Tamara A. Pavicic, Walter Hernán Kalfayan, Pablo Ten Broeke, Sanne W. Mecklin, Jukka-Pekka Pylvänäinen, Kirsi Renkonen-Sinisalo, Laura Lepistö, Anna Peltomäki, Päivi Hopper, John L. Win, Aung Ko Buchanan, Daniel D. Lindor, Noralane M. Gallinger, Steven Le Marchand, Loic Newcomb, Polly A. Figueiredo, Jane C. Thibodeau, Stephen N. Therkildsen, Christina Hansen, Thomas V.O. Lindberg, Lars Rødland, Einar Andreas Neffa, Florencia Esperon, Patricia Tjandra, Douglas Möslein, Gabriela Seppälä, Toni T. Møller, Pål . No difference in penetrance between truncating and missense/aberrant splicing pathogenic variants in mlh1 and msh2: A prospective lynch syndrome database study. Journal of Clinical Medicine. 2021, 10(13), 1-12 | |
dc.identifier.uri | http://hdl.handle.net/10852/93181 | |
dc.description.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. | |
dc.language | EN | |
dc.rights | Attribution 4.0 International | |
dc.rights.uri | https://creativecommons.org/licenses/by/4.0/ | |
dc.title | No difference in penetrance between truncating and missense/aberrant splicing pathogenic variants in mlh1 and msh2: A prospective lynch syndrome database study | |
dc.type | Journal article | |
dc.creator.author | Dominguez-Valentin, Mev | |
dc.creator.author | Plazzer, John-Paul | |
dc.creator.author | Sampson, Julian R. | |
dc.creator.author | Engel, Christoph | |
dc.creator.author | Aretz, Stefan | |
dc.creator.author | Jenkins, Mark A. | |
dc.creator.author | Sunde, Lone | |
dc.creator.author | Bernstein, Inge | |
dc.creator.author | Capella, Gabriel | |
dc.creator.author | Balaguer, Francesc | |
dc.creator.author | Macrae, Finlay | |
dc.creator.author | Winship, Ingrid M. | |
dc.creator.author | Thomas, Huw | |
dc.creator.author | Evans, Dafydd Gareth | |
dc.creator.author | Burn, John | |
dc.creator.author | Greenblatt, Marc | |
dc.creator.author | de Vos tot Nederveen Cappel, Wouter H. | |
dc.creator.author | Sijmons, Rolf H. | |
dc.creator.author | Nielsen, Maartje | |
dc.creator.author | Bertario, Lucio | |
dc.creator.author | Bonanni, Bernardo | |
dc.creator.author | Tibiletti, Maria Grazia | |
dc.creator.author | Cavestro, Giulia Martina | |
dc.creator.author | Lindblom, Annika | |
dc.creator.author | Della Valle, Adriana | |
dc.creator.author | Lopez-Kostner, Francisco | |
dc.creator.author | Alvarez, Karin | |
dc.creator.author | Gluck, Nathan | |
dc.creator.author | Katz, Lior | |
dc.creator.author | Heinimann, Karl | |
dc.creator.author | Vaccaro, Carlos Alberto | |
dc.creator.author | Nakken, Sigve | |
dc.creator.author | Hovig, Eivind | |
dc.creator.author | Green, Kate | |
dc.creator.author | Lalloo, Fiona | |
dc.creator.author | Hill, James | |
dc.creator.author | Vasen, Hans F. A. | |
dc.creator.author | Perne, Claudia | |
dc.creator.author | Büttner, Reinhard | |
dc.creator.author | Görgens, Heike | |
dc.creator.author | Holinski-Feder, Elke | |
dc.creator.author | Morak, Monika | |
dc.creator.author | Holzapfel, Stefanie | |
dc.creator.author | Hüneburg, Robert | |
dc.creator.author | Doeberitz, Magnus von Knebel | |
dc.creator.author | Loeffler, Markus | |
dc.creator.author | Rahner, Nils | |
dc.creator.author | Weitz, Jürgen | |
dc.creator.author | Steinke-Lange, Verena | |
dc.creator.author | Schmiegel, Wolff | |
dc.creator.author | Vangala, Deepak | |
dc.creator.author | Crosbie, Emma J. | |
dc.creator.author | Pineda, Marta | |
dc.creator.author | Navarro, Matilde | |
dc.creator.author | Brunet, Joan | |
dc.creator.author | Moreira, Leticia | |
dc.creator.author | Sánchez, Ariadna | |
dc.creator.author | Serra-Burriel, Miquel | |
dc.creator.author | Mints, Miriam | |
dc.creator.author | Kariv, Revital | |
dc.creator.author | Rosner, Guy | |
dc.creator.author | Piñero, Tamara A. | |
dc.creator.author | Pavicic, Walter Hernán | |
dc.creator.author | Kalfayan, Pablo | |
dc.creator.author | Ten Broeke, Sanne W. | |
dc.creator.author | Mecklin, Jukka-Pekka | |
dc.creator.author | Pylvänäinen, Kirsi | |
dc.creator.author | Renkonen-Sinisalo, Laura | |
dc.creator.author | Lepistö, Anna | |
dc.creator.author | Peltomäki, Päivi | |
dc.creator.author | Hopper, John L. | |
dc.creator.author | Win, Aung Ko | |
dc.creator.author | Buchanan, Daniel D. | |
dc.creator.author | Lindor, Noralane M. | |
dc.creator.author | Gallinger, Steven | |
dc.creator.author | Le Marchand, Loic | |
dc.creator.author | Newcomb, Polly A. | |
dc.creator.author | Figueiredo, Jane C. | |
dc.creator.author | Thibodeau, Stephen N. | |
dc.creator.author | Therkildsen, Christina | |
dc.creator.author | Hansen, Thomas V.O. | |
dc.creator.author | Lindberg, Lars | |
dc.creator.author | Rødland, Einar Andreas | |
dc.creator.author | Neffa, Florencia | |
dc.creator.author | Esperon, Patricia | |
dc.creator.author | Tjandra, Douglas | |
dc.creator.author | Möslein, Gabriela | |
dc.creator.author | Seppälä, Toni T. | |
dc.creator.author | Møller, Pål | |
cristin.unitcode | 185,53,2,15 | |
cristin.unitname | Senter for kreftcelle-reprogrammering | |
cristin.ispublished | true | |
cristin.fulltext | original | |
cristin.qualitycode | 1 | |
dc.identifier.cristin | 2004646 | |
dc.identifier.bibliographiccitation | info:ofi/fmt:kev:mtx:ctx&ctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Journal of Clinical Medicine&rft.volume=10&rft.spage=1&rft.date=2021 | |
dc.identifier.jtitle | Journal of Clinical Medicine | |
dc.identifier.volume | 10 | |
dc.identifier.issue | 13 | |
dc.identifier.doi | https://doi.org/10.3390/jcm10132856 | |
dc.identifier.urn | URN:NBN:no-95774 | |
dc.type.document | Tidsskriftartikkel | |
dc.type.peerreviewed | Peer reviewed | |
dc.source.issn | 2077-0383 | |
dc.identifier.fulltext | Fulltext https://www.duo.uio.no/bitstream/handle/10852/93181/1/No%2Bdifference%2Bin%2Bpenetrance%2Bbetween%2Btruncating%2Band%2Bmissense%2Baberrant%2Bsplicing%2Bpathogenic%2Bvariants%2Bin%2Bmlh1%2Band%2Bmsh2%2BA%2Bprospective%2Blynch%2Bsyndrome%2Bdatabase%2Bstudy.pdf | |
dc.type.version | PublishedVersion | |
cristin.articleid | 2856 |
Files in this item
Appears in the following Collection
-
Institutt for informatikk [4955]
-
Det matematisk-naturvitenskapelige fakultet [838]
-
Institutt for klinisk medisin [10813]
-
CRIStin høstingsarkiv [31446]