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Associations of pathogenic variants in MLH1, MSH2, and MSH6 with risk of colorectal adenomas and tumors and with somatic mutations in patients with Lynch syndrome

Lynch syndrome is caused by variants in DNA mismatch repair (MMR) genes and associated with an increased risk of colorectal cancer (CRC). In patients with Lynch syndrome, CRCs can develop via different pathways. We studied associations between Lynch syndrome-associated variants in MMR genes and risk...

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Main Authors: Engel, Christoph (Author) , Ahadova, Aysel (Author) , Seppälä, Toni T. (Author) , Aretz, Stefan (Author) , Bigirwamungu-Bargeman, Marloes (Author) , Bläker, Hendrik (Author) , Bucksch, Karolin (Author) , Büttner, Reinhard (Author) , de Vos tot Nederveen Cappel, Wouter T. (Author) , Endris, Volker (Author) , Holinski-Feder, Elke (Author) , Holzapfel, Stefanie (Author) , Hüneburg, Robert (Author) , Jacobs, Maarten A. J. M. (Author) , Koornstra, Jan J. (Author) , Langers, Alexandra M. (Author) , Lepistö, Anna (Author) , Morak, Monika (Author) , Möslein, Gabriela (Author) , Peltomäki, Päivi (Author) , Pylvänäinen, Kirsi (Author) , Rahner, Nils (Author) , Renkonen-Sinisalo, Laura (Author) , Schulmann, Karsten (Author) , Steinke-Lange, Verena (Author) , Stenzinger, Albrecht (Author) , Strassburg, Christian P. (Author) , van de Meeberg, Paul C. (Author) , van Kouwen, Mariette (Author) , van Leerdam, Monique (Author) , Vangala, Deepak B. (Author) , Vecht, Juda (Author) , Verhulst, Marie-Louise (Author) , Knebel Doeberitz, Magnus von (Author) , Weitz, Jürgen (Author) , Zachariae, Silke (Author) , Loeffler, Markus (Author) , Mecklin, Jukka-Pekka (Author) , Kloor, Matthias (Author) , Vasen, Hans F. (Author)
Format: Article (Journal)
Language:English
Published: 8 January 2020
In: Gastroenterology
Year: 2020, Volume: 158, Issue: 5, Pages: 1326-1333
ISSN:1528-0012
DOI:10.1053/j.gastro.2019.12.032
Online Access:Resolving-System, lizenzpflichtig, Volltext: https://doi.org/10.1053/j.gastro.2019.12.032
Verlag, lizenzpflichtig, Volltext: http://www.sciencedirect.com/science/article/pii/S0016508520300147
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Author Notes:Christoph Engel, Aysel Ahadova, Toni T. Seppälä, Stefan Aretz, Marloes Bigirwamungu-Bargeman, Hendrik Bläker, Karolin Bucksch, Reinhard Büttner, Wouter T. de Vos tot Nederveen Cappel, Volker Endris, Elke Holinski-Feder, Stefanie Holzapfel, Robert Hüneburg, Maarten A.J.M. Jacobs, Jan J. Koornstra, Alexandra M. Langers, Anna Lepistö, Monika Morak, Gabriela Möslein, Päivi Peltomäki, Kirsi Pylvänäinen, Nils Rahner, Laura Renkonen-Sinisalo, Karsten Schulmann, Verena Steinke-Lange, Albrecht Stenzinger, Christian P. Strassburg, Paul C. van de Meeberg, Mariette van Kouwen, Monique van Leerdam, Deepak B. Vangala, Juda Vecht, Marie-Louise Verhulst, Magnus von Knebel Doeberitz, Jürgen Weitz, Silke Zachariae, Markus Loeffler, Jukka-Pekka Mecklin, Matthias Kloor, and Hans F. Vasen
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Summary:Lynch syndrome is caused by variants in DNA mismatch repair (MMR) genes and associated with an increased risk of colorectal cancer (CRC). In patients with Lynch syndrome, CRCs can develop via different pathways. We studied associations between Lynch syndrome-associated variants in MMR genes and risks of adenoma and CRC and somatic mutations in APC and CTNNB1 in tumors in an international cohort of patients.
Item Description:Gesehen am 29.04.2020
Physical Description:Online Resource
ISSN:1528-0012
DOI:10.1053/j.gastro.2019.12.032

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