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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.
Engel C, Ahadova A, Seppälä TT, Aretz S, Bigirwamungu-Bargeman M, Bläker H, Bucksch K, Büttner R, de Vos Tot Nederveen Cappel WT, Endris V, Holinski-Feder E, Holzapfel S, Hüneburg R, Jacobs MAJM, Koornstra JJ, Langers AM, Lepistö A, Morak M, Möslein G, Peltomäki P, Pylvänäinen K, Rahner N, Renkonen-Sinisalo L, Schulmann K, Steinke-Lange V, Stenzinger A, Strassburg CP, van de Meeberg PC, van Kouwen M, van Leerdam M, Vangala DB, Vecht J, Verhulst ML, von Knebel Doeberitz M, Weitz J, Zachariae S, Loeffler M, Mecklin JP, Kloor M, Vasen HF; German HNPCC Consortium, the Dutch Lynch Syndrome Collaborative Group; Finnish Lynch Syndrome Registry. Engel C, et al. Among authors: von knebel doeberitz m. Gastroenterology. 2020 Apr;158(5):1326-1333. doi: 10.1053/j.gastro.2019.12.032. Epub 2020 Jan 8. Gastroenterology. 2020. PMID: 31926173
A large MSH2 Alu insertion mutation causes HNPCC in a German kindred.
Kloor M, Sutter C, Wentzensen N, Cremer FW, Buckowitz A, Keller M, von Knebel Doeberitz M, Gebert J. Kloor M, et al. Among authors: von knebel doeberitz m. Hum Genet. 2004 Oct;115(5):432-8. doi: 10.1007/s00439-004-1176-9. Epub 2004 Aug 31. Hum Genet. 2004. PMID: 15340835
Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German Hereditary Nonpolyposis Colorectal Cancer Consortium.
Plaschke J, Engel C, Krüger S, Holinski-Feder E, Pagenstecher C, Mangold E, Moeslein G, Schulmann K, Gebert J, von Knebel Doeberitz M, Rüschoff J, Loeffler M, Schackert HK. Plaschke J, et al. Among authors: von knebel doeberitz m. J Clin Oncol. 2004 Nov 15;22(22):4486-94. doi: 10.1200/JCO.2004.02.033. Epub 2004 Oct 13. J Clin Oncol. 2004. PMID: 15483016
Microsatellite instability of selective target genes in HNPCC-associated colon adenomas.
Woerner SM, Kloor M, Mueller A, Rueschoff J, Friedrichs N, Buettner R, Buzello M, Kienle P, Knaebel HP, Kunstmann E, Pagenstecher C, Schackert HK, Möslein G, Vogelsang H, von Knebel Doeberitz M, Gebert JF; German HNPCC Consortium. Woerner SM, et al. Among authors: von knebel doeberitz m. Oncogene. 2005 Apr 7;24(15):2525-35. doi: 10.1038/sj.onc.1208456. Oncogene. 2005. PMID: 15735733
318 results