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Somatic copy number alteration and fragmentation analysis in circulating tumor DNA for cancer screening and treatment monitoring in colorectal cancer patients.
Hallermayr A, Wohlfrom T, Steinke-Lange V, Benet-Pagès A, Scharf F, Heitzer E, Mansmann U, Haberl C, de Wit M, Vogelsang H, Rentsch M, Holinski-Feder E, Pickl JMA. Hallermayr A, et al. J Hematol Oncol. 2022 Sep 2;15(1):125. doi: 10.1186/s13045-022-01342-z. J Hematol Oncol. 2022. PMID: 36056434 Free PMC article.
Deletions account for 17% of pathogenic germline alterations in MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer (HNPCC) families.
Grabowski M, Mueller-Koch Y, Grasbon-Frodl E, Koehler U, Keller G, Vogelsang H, Dietmaier W, Kopp R, Siebers U, Schmitt W, Neitzel B, Gruber M, Doerner C, Kerker B, Ruemmele P, Henke G, Holinski-Feder E. Grabowski M, et al. Genet Test. 2005 Summer;9(2):138-46. doi: 10.1089/gte.2005.9.138. Genet Test. 2005. PMID: 15943554
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. 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
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. 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
Genome-wide analysis associates familial colorectal cancer with increases in copy number variations and a rare structural variation at 12p12.3.
Yang R, Chen B, Pfütze K, Buch S, Steinke V, Holinski-Feder E, Stöcker S, von Schönfels W, Becker T, Schackert HK, Royer-Pokora B, Kloor M, Schmiegel WH, Büttner R, Engel C, Lascorz Puertolas J, Försti A, Kunkel N, Bugert P, Schreiber S, Krawczak M, Schafmayer C, Propping P, Hampe J, Hemminki K, Burwinkel B. Yang R, et al. Carcinogenesis. 2014 Feb;35(2):315-23. doi: 10.1093/carcin/bgt344. Epub 2013 Oct 14. Carcinogenesis. 2014. PMID: 24127187
Comprehensive analysis of the MLH1 promoter region in 480 patients with colorectal cancer and 1150 controls reveals new variants including one with a heritable constitutional MLH1 epimutation.
Morak M, Ibisler A, Keller G, Jessen E, Laner A, Gonzales-Fassrainer D, Locher M, Massdorf T, Nissen AM, Benet-Pagès A, Holinski-Feder E. Morak M, et al. J Med Genet. 2018 Apr;55(4):240-248. doi: 10.1136/jmedgenet-2017-104744. Epub 2018 Feb 22. J Med Genet. 2018. PMID: 29472279
No Difference in Colorectal Cancer Incidence or Stage at Detection by Colonoscopy Among 3 Countries With Different Lynch Syndrome Surveillance Policies.
Engel C, Vasen HF, Seppälä T, Aretz S, Bigirwamungu-Bargeman M, de Boer SY, Bucksch K, Büttner R, Holinski-Feder E, Holzapfel S, Hüneburg R, Jacobs MAJM, Järvinen H, Kloor M, von Knebel Doeberitz M, Koornstra JJ, van Kouwen M, Langers AM, van de Meeberg PC, Morak M, Möslein G, Nagengast FM, Pylvänäinen K, Rahner N, Renkonen-Sinisalo L, Sanduleanu S, Schackert HK, Schmiegel W, Schulmann K, Steinke-Lange V, Strassburg CP, Vecht J, Verhulst ML, de Vos Tot Nederveen Cappel W, Zachariae S, Mecklin JP, Loeffler M; German HNPCC Consortium, the Dutch Lynch Syndrome Collaborative Group, and the Finnish Lynch Syndrome Registry. Engel C, et al. Gastroenterology. 2018 Nov;155(5):1400-1409.e2. doi: 10.1053/j.gastro.2018.07.030. Epub 2018 Jul 29. Gastroenterology. 2018. PMID: 30063918
217 results