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Page 1
Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database.
Dominguez-Valentin M, Sampson JR, Seppälä TT, Ten Broeke SW, Plazzer JP, Nakken S, Engel C, Aretz S, Jenkins MA, Sunde L, Bernstein I, Capella G, Balaguer F, Thomas H, Evans DG, Burn J, Greenblatt M, Hovig E, de Vos Tot Nederveen Cappel WH, Sijmons RH, Bertario L, Tibiletti MG, Cavestro GM, Lindblom A, Della Valle A, Lopez-Köstner F, Gluck N, Katz LH, Heinimann K, Vaccaro CA, Büttner R, Görgens H, Holinski-Feder E, Morak M, Holzapfel S, Hüneburg R, Knebel Doeberitz MV, Loeffler M, Rahner N, Schackert HK, Steinke-Lange V, Schmiegel W, Vangala D, Pylvänäinen K, Renkonen-Sinisalo L, Hopper JL, Win AK, Haile RW, Lindor NM, Gallinger S, Le Marchand L, Newcomb PA, Figueiredo JC, Thibodeau SN, Wadt K, Therkildsen C, Okkels H, Ketabi Z, Moreira L, Sánchez A, Serra-Burriel M, Pineda M, Navarro M, Blanco I, Green K, Lalloo F, Crosbie EJ, Hill J, Denton OG, Frayling IM, Rødland EA, Vasen H, Mints M, Neffa F, Esperon P, Alvarez K, Kariv R, Rosner G, Pinero TA, Gonzalez ML, Kalfayan P, Tjandra D, Winship IM, Macrae F, Möslein G, Mecklin JP, Nielsen M, Møller P. Dominguez-Valentin M, et al. Among authors: schmiegel w. Genet Med. 2020 Jan;22(1):15-25. doi: 10.1038/s41436-019-0596-9. Epub 2019 Jul 24. Genet Med. 2020. PMID: 31337882 Free PMC article.
HNPCC: six new pathogenic mutations.
Kunstmann E, Vieland J, Brasch FE, Hahn SA, Epplen JT, Schulmann K, Schmiegel W. Kunstmann E, et al. Among authors: schmiegel w. BMC Med Genet. 2004 Jun 24;5:16. doi: 10.1186/1471-2350-5-16. BMC Med Genet. 2004. PMID: 15217520 Free PMC article.
HNPCC-associated small bowel cancer: clinical and molecular characteristics.
Schulmann K, Brasch FE, Kunstmann E, Engel C, Pagenstecher C, Vogelsang H, Krüger S, Vogel T, Knaebel HP, Rüschoff J, Hahn SA, Knebel-Doeberitz MV, Moeslein G, Meltzer SJ, Schackert HK, Tympner C, Mangold E, Schmiegel W; German HNPCC Consortium. Schulmann K, et al. Among authors: schmiegel w. Gastroenterology. 2005 Mar;128(3):590-9. doi: 10.1053/j.gastro.2004.12.051. Gastroenterology. 2005. PMID: 15765394
Genotype-phenotype comparison of German MLH1 and MSH2 mutation carriers clinically affected with Lynch syndrome: a report by the German HNPCC Consortium.
Goecke T, Schulmann K, Engel C, Holinski-Feder E, Pagenstecher C, Schackert HK, Kloor M, Kunstmann E, Vogelsang H, Keller G, Dietmaier W, Mangold E, Friedrichs N, Propping P, Krüger S, Gebert J, Schmiegel W, Rueschoff J, Loeffler M, Moeslein G; German HNPCC Consortium. Goecke T, et al. Among authors: schmiegel w. J Clin Oncol. 2006 Sep 10;24(26):4285-92. doi: 10.1200/JCO.2005.03.7333. Epub 2006 Aug 14. J Clin Oncol. 2006. PMID: 16908935
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: schmiegel w. 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
Efficacy of annual colonoscopic surveillance in individuals with hereditary nonpolyposis colorectal cancer.
Engel C, Rahner N, Schulmann K, Holinski-Feder E, Goecke TO, Schackert HK, Kloor M, Steinke V, Vogelsang H, Möslein G, Görgens H, Dechant S, von Knebel Doeberitz M, Rüschoff J, Friedrichs N, Büttner R, Loeffler M, Propping P, Schmiegel W; German HNPCC Consortium. Engel C, et al. Among authors: schmiegel w. Clin Gastroenterol Hepatol. 2010 Feb;8(2):174-82. doi: 10.1016/j.cgh.2009.10.003. Epub 2009 Oct 14. Clin Gastroenterol Hepatol. 2010. PMID: 19835992
Risks of less common cancers in proven mutation carriers with lynch syndrome.
Engel C, Loeffler M, Steinke V, Rahner N, Holinski-Feder E, Dietmaier W, Schackert HK, Goergens H, von Knebel Doeberitz M, Goecke TO, Schmiegel W, Buettner R, Moeslein G, Letteboer TG, Gómez García E, Hes FJ, Hoogerbrugge N, Menko FH, van Os TA, Sijmons RH, Wagner A, Kluijt I, Propping P, Vasen HF. Engel C, et al. Among authors: schmiegel w. J Clin Oncol. 2012 Dec 10;30(35):4409-15. doi: 10.1200/JCO.2012.43.2278. Epub 2012 Oct 22. J Clin Oncol. 2012. PMID: 23091106
Hereditary nonpolyposis colorectal cancer (HNPCC)/Lynch syndrome.
Steinke V, Engel C, Büttner R, Schackert HK, Schmiegel WH, Propping P. Steinke V, et al. Dtsch Arztebl Int. 2013 Jan;110(3):32-8. doi: 10.3238/arztebl.2013.0032. Epub 2013 Jan 18. Dtsch Arztebl Int. 2013. PMID: 23413378 Free PMC article. Review.
375 results