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The founder mutation MSH2*1906G-->C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population.
Foulkes WD, Thiffault I, Gruber SB, Horwitz M, Hamel N, Lee C, Shia J, Markowitz A, Figer A, Friedman E, Farber D, Greenwood CM, Bonner JD, Nafa K, Walsh T, Marcus V, Tomsho L, Gebert J, Macrae FA, Gaff CL, Paillerets BB, Gregersen PK, Weitzel JN, Gordon PH, MacNamara E, King MC, Hampel H, De La Chapelle A, Boyd J, Offit K, Rennert G, Chong G, Ellis NA. Foulkes WD, et al. Among authors: gebert j. Am J Hum Genet. 2002 Dec;71(6):1395-412. doi: 10.1086/345075. Epub 2002 Nov 26. Am J Hum Genet. 2002. PMID: 12454801 Free PMC article.
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: gebert j. Hum Genet. 2004 Oct;115(5):432-8. doi: 10.1007/s00439-004-1176-9. Epub 2004 Aug 31. Hum Genet. 2004. PMID: 15340835
Reduced mRNA expression in paraffin-embedded tissue identifies MLH1- and MSH2-deficient colorectal tumours and potential mutation carriers.
Müller A, Zielinski D, Friedrichs N, Oberschmid B, Merkelbach-Bruse S, Schackert HK, Linnebacher M, von Knebel Doeberitz M, Büttner R, Rüschoff J; German HNPCC Consortium, German Cancer Aid Deutsche Krebshilfe. Müller A, et al. Virchows Arch. 2008 Jul;453(1):9-16. doi: 10.1007/s00428-008-0637-2. Epub 2008 Jun 26. Virchows Arch. 2008. PMID: 18581137
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: gebert j. 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
Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer.
Mangold E, Pagenstecher C, Friedl W, Mathiak M, Buettner R, Engel C, Loeffler M, Holinski-Feder E, Müller-Koch Y, Keller G, Schackert HK, Krüger S, Goecke T, Moeslein G, Kloor M, Gebert J, Kunstmann E, Schulmann K, Rüschoff J, Propping P. Mangold E, et al. Among authors: gebert j. Int J Cancer. 2005 Sep 20;116(5):692-702. doi: 10.1002/ijc.20863. Int J Cancer. 2005. PMID: 15849733 Free article.
Eight novel MSH6 germline mutations in patients with familial and nonfamilial colorectal cancer selected by loss of protein expression in tumor tissue.
Plaschke J, Krüger S, Dietmaier W, Gebert J, Sutter C, Mangold E, Pagenstecher C, Holinski-Feder E, Schulmann K, Möslein G, Rüschoff J, Engel C, Evans G, Schackert HK; German HNPCC Consortium. Plaschke J, et al. Among authors: gebert j. Hum Mutat. 2004 Mar;23(3):285. doi: 10.1002/humu.9217. Hum Mutat. 2004. PMID: 14974087
Evaluation of Bethesda guidelines in relation to microsatellite instability.
Wüllenweber HP, Sutter C, Autschbach F, Willeke F, Kienle P, Benner A, Bähring J, Kadmon M, Herfarth C, von Knebel Doeberitz M, Gebert J. Wüllenweber HP, et al. Among authors: gebert j. Dis Colon Rectum. 2001 Sep;44(9):1281-9. doi: 10.1007/BF02234785. Dis Colon Rectum. 2001. PMID: 11584201
151 results