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Elucidating the molecular basis of MSH2-deficient tumors by combined germline and somatic analysis.
Vargas-Parra GM, González-Acosta M, Thompson BA, Gómez C, Fernández A, Dámaso E, Pons T, Morak M, Del Valle J, Iglesias S, Velasco À, Solanes A, Sanjuan X, Padilla N, de la Cruz X, Valencia A, Holinski-Feder E, Brunet J, Feliubadaló L, Lázaro C, Navarro M, Pineda M, Capellá G. Vargas-Parra GM, et al. Among authors: morak m. Int J Cancer. 2017 Oct 1;141(7):1365-1380. doi: 10.1002/ijc.30820. Epub 2017 Jul 3. Int J Cancer. 2017. PMID: 28577310 Free article.
Further evidence for heritability of an epimutation in one of 12 cases with MLH1 promoter methylation in blood cells clinically displaying HNPCC.
Morak M, Schackert HK, Rahner N, Betz B, Ebert M, Walldorf C, Royer-Pokora B, Schulmann K, von Knebel-Doeberitz M, Dietmaier W, Keller G, Kerker B, Leitner G, Holinski-Feder E. Morak M, et al. Eur J Hum Genet. 2008 Jul;16(7):804-11. doi: 10.1038/ejhg.2008.25. Epub 2008 Feb 27. Eur J Hum Genet. 2008. PMID: 18301449
Ten recently identified associations between nsSNPs and colorectal cancer could not be replicated in German families.
Frank B, Burwinkel B, Bermejo JL, Försti A, Hemminki K, Houlston R, Mangold E, Rahner N, Friedl W, Friedrichs N, Buettner R, Engel C, Loeffler M, Holinski-Feder E, Morak M, Keller G, Schackert HK, Krüger S, Goecke T, Moeslein G, Kloor M, Gebert J, Kunstmann E, Schulmann K, Rüschoff J, Propping P; German HNPCC Consortium. Frank B, et al. Among authors: morak m. Cancer Lett. 2008 Nov 18;271(1):153-7. doi: 10.1016/j.canlet.2008.05.043. Epub 2008 Jul 10. Cancer Lett. 2008. PMID: 18619730
Recurrence and variability of germline EPCAM deletions in Lynch syndrome.
Kuiper RP, Vissers LE, Venkatachalam R, Bodmer D, Hoenselaar E, Goossens M, Haufe A, Kamping E, Niessen RC, Hogervorst FB, Gille JJ, Redeker B, Tops CM, van Gijn ME, van den Ouweland AM, Rahner N, Steinke V, Kahl P, Holinski-Feder E, Morak M, Kloor M, Stemmler S, Betz B, Hutter P, Bunyan DJ, Syngal S, Culver JO, Graham T, Chan TL, Nagtegaal ID, van Krieken JH, Schackert HK, Hoogerbrugge N, van Kessel AG, Ligtenberg MJ. Kuiper RP, et al. Among authors: morak m. Hum Mutat. 2011 Apr;32(4):407-14. doi: 10.1002/humu.21446. Epub 2011 Mar 1. Hum Mutat. 2011. PMID: 21309036
Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies.
Hardt K, Heick SB, Betz B, Goecke T, Yazdanparast H, Küppers R, Servan K, Steinke V, Rahner N, Morak M, Holinski-Feder E, Engel C, Möslein G, Schackert HK, von Knebel Doeberitz M, Pox C; Peter Propping; German HNPCC consortium; Hegemann JH, Royer-Pokora B. Hardt K, et al. Among authors: morak m. Fam Cancer. 2011 Jun;10(2):273-84. doi: 10.1007/s10689-011-9431-4. Fam Cancer. 2011. PMID: 21404117
An American founder mutation in MLH1.
Tomsic J, Liyanarachchi S, Hampel H, Morak M, Thomas BC, Raymond VM, Chittenden A, Schackert HK, Gruber SB, Syngal S, Viel A, Holinski-Feder E, Thibodeau SN, de la Chapelle A. Tomsic J, et al. Among authors: morak m. Int J Cancer. 2012 May 1;130(9):2088-95. doi: 10.1002/ijc.26233. Epub 2011 Aug 30. Int J Cancer. 2012. PMID: 21671475 Free PMC article.
97 results