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Items: 18


Evaluating the performance of clinical criteria for predicting mismatch repair gene mutations in Lynch syndrome: a comprehensive analysis of 3,671 families.

Steinke V, Holzapfel S, Loeffler M, Holinski-Feder E, Morak M, Schackert HK, Görgens H, Pox C, Royer-Pokora B, von Knebel-Doeberitz M, Büttner R, Propping P, Engel C; German HNPCC Consortium.

Int J Cancer. 2014 Jul 1;135(1):69-77. doi: 10.1002/ijc.28650. Epub 2014 Feb 20.


Biallelic MLH1 SNP cDNA expression or constitutional promoter methylation can hide genomic rearrangements causing Lynch syndrome.

Morak M, Koehler U, Schackert HK, Steinke V, Royer-Pokora B, Schulmann K, Kloor M, Höchter W, Weingart J, Keiling C, Massdorf T, Holinski-Feder E; German HNPCC consortium.

J Med Genet. 2011 Aug;48(8):513-9. doi: 10.1136/jmedgenet-2011-100050. Epub 2011 Jun 28.


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.

Fam Cancer. 2011 Jun;10(2):273-84. doi: 10.1007/s10689-011-9431-4.


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.

Clin Gastroenterol Hepatol. 2010 Feb;8(2):174-82. doi: 10.1016/j.cgh.2009.10.003. Epub 2009 Oct 14.


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.

Cancer Lett. 2008 Nov 18;271(1):153-7. doi: 10.1016/j.canlet.2008.05.043. Epub 2008 Jul 10.


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.

Virchows Arch. 2008 Jul;453(1):9-16. doi: 10.1007/s00428-008-0637-2. Epub 2008 Jun 26.


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.

Eur J Hum Genet. 2008 May;16(5):587-92. doi: 10.1038/ejhg.2008.26. Epub 2008 Feb 27.


The additive effect of p53 Arg72Pro and RNASEL Arg462Gln genotypes on age of disease onset in Lynch syndrome patients with pathogenic germline mutations in MSH2 or MLH1.

Krüger S, Engel C, Bier A, Silber AS, Görgens H, Mangold E, Pagenstecher C, Holinski-Feder E, von Knebel Doeberitz M, Royer-Pokora B, Dechant S, Pox C, Rahner N, Müller A, Schackert HK; German HNPCC Consortium.

Cancer Lett. 2007 Jul 8;252(1):55-64. Epub 2007 Jan 16.


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.

J Clin Oncol. 2006 Sep 10;24(26):4285-92. Epub 2006 Aug 14.


Absence of association between cyclin D1 (CCND1) G870A polymorphism and age of onset in hereditary nonpolyposis colorectal cancer.

Krüger S, Engel C, Bier A, Mangold E, Pagenstecher C, Doeberitz Mv, Holinski-Feder E, Moeslein G, Keller G, Kunstmann E, Friedl W, Plaschke J, Rüschoff J, Schackert HK; German HNPCC-Consortium.

Cancer Lett. 2006 May 18;236(2):191-7.


Prevalence of the mismatch-repair-deficient phenotype in colonic adenomas arising in HNPCC patients: results of a 5-year follow-up study.

German HNPCC Consortium, Müller A, Beckmann C, Westphal G, Bocker Edmonston T, Friedrichs N, Dietmaier W, Brasch FE, Kloor M, Poremba C, Keller G, Aust DE, Fass J, Büttner R, Becker H, Rüschoff J.

Int J Colorectal Dis. 2006 Oct;21(7):632-41. Epub 2006 Mar 2.


N-acetyltransferase (NAT) 2 acetylator status and age of onset in patients with hereditary nonpolyposis colorectal cancer (HNPCC).

Pistorius S, Görgens H, Krüger S, Engel C, Mangold E, Pagenstecher C, Holinski-Feder E, Moeslein G, von Knebel Doeberitz M, Rüschoff J, Karner-Hanusch J, Saeger HD, Schackert HK; German Hnpcc-Consortium.

Cancer Lett. 2006 Sep 8;241(1):150-7. Epub 2005 Dec 6.


Novel strategy for optimal sequential application of clinical criteria, immunohistochemistry and microsatellite analysis in the diagnosis of hereditary nonpolyposis colorectal cancer.

Engel C, Forberg J, Holinski-Feder E, Pagenstecher C, Plaschke J, Kloor M, Poremba C, Pox CP, Rüschoff J, Keller G, Dietmaier W, Rümmele P, Friedrichs N, Mangold E, Buettner R, Schackert HK, Kienle P, Stemmler S, Moeslein G, Loeffler M; German HNPCC Consortium.

Int J Cancer. 2006 Jan 1;118(1):115-22.


Microsatellite analysis of hereditary nonpolyposis colorectal cancer-associated colorectal adenomas by laser-assisted microdissection: correlation with mismatch repair protein expression provides new insights in early steps of tumorigenesis.

Giuffrè G, Müller A, Brodegger T, Bocker-Edmonston T, Gebert J, Kloor M, Dietmaier W, Kullmann F, Büttner R, Tuccari G, Rüschoff J; German HNPCC Consortium, German Cancer Aid, (Deutsche Krebshilfe).

J Mol Diagn. 2005 May;7(2):160-70.


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.

Gastroenterology. 2005 Mar;128(3):590-9.


Microsatellite instability of selective target genes in HNPCC-associated colon adenomas.

Woerner SM, Kloor M, Mueller A, Rueschoff J, Friedrichs N, Buettner R, Buzello M, Kienle P, Knaebel HP, Kunstmann E, Pagenstecher C, Schackert HK, Möslein G, Vogelsang H, von Knebel Doeberitz M, Gebert JF; German HNPCC Consortium.

Oncogene. 2005 Apr 7;24(15):2525-35.


Challenges and pitfalls in HNPCC screening by microsatellite analysis and immunohistochemistry.

Müller A, Giuffre G, Edmonston TB, Mathiak M, Roggendorf B, Heinmöller E, Brodegger T, Tuccari G, Mangold E, Buettner R, Rüschoff J; German HNPCC Consortium German Cancer Aid (Deutsche Krebshilfe).

J Mol Diagn. 2004 Nov;6(4):308-15.


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.

Hum Mutat. 2004 Mar;23(3):285.


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