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No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study.
Dominguez-Valentin M, Plazzer JP, Sampson JR, Engel C, Aretz S, Jenkins MA, Sunde L, Bernstein I, Capella G, Balaguer F, Macrae F, Winship IM, Thomas H, Evans DG, Burn J, Greenblatt M, de Vos Tot Nederveen Cappel WH, Sijmons RH, Nielsen M, Bertario L, Bonanni B, Tibiletti MG, Cavestro GM, Lindblom A, Valle AD, Lopez-Kostner F, Alvarez K, Gluck N, Katz L, Heinimann K, Vaccaro CA, Nakken S, Hovig E, Green K, Lalloo F, Hill J, Vasen HFA, Perne C, Büttner R, Görgens H, Holinski-Feder E, Morak M, Holzapfel S, Hüneburg R, von Knebel Doeberitz M, Loeffler M, Rahner N, Weitz J, Steinke-Lange V, Schmiegel W, Vangala D, Crosbie EJ, Pineda M, Navarro M, Brunet J, Moreira L, Sánchez A, Serra-Burriel M, Mints M, Kariv R, Rosner G, Piñero TA, Pavicic WH, Kalfayan P, Broeke SWT, Mecklin JP, Pylvänäinen K, Renkonen-Sinisalo L, Lepistö A, Peltomäki P, Hopper JL, Win AK, Buchanan DD, Lindor NM, Gallinger S, Marchand LL, Newcomb PA, Figueiredo JC, Thibodeau SN, Therkildsen C, Hansen TVO, Lindberg L, Rødland EA, Neffa F, Esperon P, Tjandra D, Möslein G, Seppälä TT, Møller P. Dominguez-Valentin M, et al. Among authors: morak m. J Clin Med. 2021 Jun 28;10(13):2856. doi: 10.3390/jcm10132856. J Clin Med. 2021. PMID: 34203177 Free PMC article.
No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients.
Steinke V, Rahner N, Morak M, Keller G, Schackert HK, Görgens H, Schmiegel W, Royer-Pokora B, Dietmaier W, Kloor M, Engel C, Propping P, Aretz S; German HNPCC Consortium. Steinke V, et al. Among authors: morak m. Eur J Hum Genet. 2008 May;16(5):587-92. doi: 10.1038/ejhg.2008.26. Epub 2008 Feb 27. Eur J Hum Genet. 2008. PMID: 18301448
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
Polymorphisms of genes coding for ghrelin and its receptor in relation to colorectal cancer risk: a two-step gene-wide case-control study.
Campa D, Pardini B, Naccarati A, Vodickova L, Novotny J, Steinke V, Rahner N, Holinski-Feder E, Morak M, Schackert HK, Görgens H, Kötting J, Betz B, Kloor M, Engel C, Büttner R, Propping P, Försti A, Hemminki K, Barale R, Vodicka P, Canzian F. Campa D, et al. Among authors: morak m. BMC Gastroenterol. 2010 Sep 28;10:112. doi: 10.1186/1471-230X-10-112. BMC Gastroenterol. 2010. PMID: 20920174 Free PMC article.
Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study.
Kempers MJ, Kuiper RP, Ockeloen CW, Chappuis PO, Hutter P, Rahner N, Schackert HK, Steinke V, Holinski-Feder E, Morak M, Kloor M, Büttner R, Verwiel ET, van Krieken JH, Nagtegaal ID, Goossens M, van der Post RS, Niessen RC, Sijmons RH, Kluijt I, Hogervorst FB, Leter EM, Gille JJ, Aalfs CM, Redeker EJ, Hes FJ, Tops CM, van Nesselrooij BP, van Gijn ME, Gómez García EB, Eccles DM, Bunyan DJ, Syngal S, Stoffel EM, Culver JO, Palomares MR, Graham T, Velsher L, Papp J, Oláh E, Chan TL, Leung SY, van Kessel AG, Kiemeney LA, Hoogerbrugge N, Ligtenberg MJ. Kempers MJ, et al. Among authors: morak m. Lancet Oncol. 2011 Jan;12(1):49-55. doi: 10.1016/S1470-2045(10)70265-5. Epub 2010 Dec 8. Lancet Oncol. 2011. PMID: 21145788 Free PMC article.
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