Ehemalige Mitarbeiter

Prof. Dr. med. Peter Propping

Dr. med. Ronja Adam

Dr. rer. nat. Per Hoffmann

Dr. med. Stefanie Holzapfel

Dr. rer. nat. Sukanya Horpaopan

Dr. rer. nat. Katrin Kayser

Dr. med. Nils Rahner

Dr. med. Verena Steinke

Dr. med. Stefanie Vogt

Publikationen

2016

Adam R, Spier I, Zhao B, Kloth M, Marquez J, Hinrichsen I, Kirfel J, Tafazzoli A, Horpaopan S, Uhlhaas S, Stienen D, Friedrichs N, Altmüller J, Laner A, Holzapfel S, Peters S, Kayser K, Thiele H, Holinski-Feder E, Marra G, Kristiansen G, Nöthen MM, Büttner R, Möslein G, Betz RC, Brieger A, Lifton RP, Aretz S. Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis. Am J Hum Genet. 2016 Jul 27. pii: S0002-9297(16)30219-1. doi: 10.1016/j.ajhg.2016.06.015. [Epub ahead of print]

Spier I, Kerick M, Drichel D, Horpaopan S, Altmüller J, Laner A, Holzapfel S, Peters S, Adam R, Zhao B, Becker T, Lifton RP, Holinski-Feder E, Perner S, Thiele H, Nöthen MM, Hoffmann P, Timmermann B, Schweiger MR, Aretz S. Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposis. Fam Cancer. 2016 Apr;15(2):281-8. doi: 10.1007/s10689-016-9870-z.

Spier I, Drichel D, Kerick M, Kirfel J, Horpaopan S, Laner A, Holzapfel S, Peters S, Adam R, Zhao B, Becker T, Lifton RP, Perner S, Hoffmann P, Kristiansen G, Timmermann B, Nöthen MM, Holinski-Feder E, Schweiger MR, Aretz S. Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases. J Med Genet. 2016 Mar;53(3):172-9. doi: 10.1136/jmedgenet-2015-103468. Epub 2015 Nov 27.

2015

Kloth M, Ruesseler V, Engel C, Koenig K, Peifer M, Mariotti E, Kuenstlinger H, Florin A, Rommerscheidt-Fuss U, Koitzsch U, Wodtke C, Ueckeroth F, Holzapfel S, Aretz S, Propping P, Loeffler M, Merkelbach-Bruse S, Odenthal M, Friedrichs N, Heukamp LC, Zander T, Buettner R. Activating ERBB2/HER2 mutations indicate susceptibility to pan-HER inhibitors in Lynch and Lynch-like colorectal cancer. Gut 2015 Apr 28. pii: gutjnl-2014-309026. doi: 10.1136/gutjnl-2014-309026.

Spier I, Holzapfel S, Altmüller J, Zhao B, Horpaopan S, Vogt S, Chen S, Morak M, Raeder S, Kayser K, Stienen D, Adam R, Nürnberg P, Plotz G, Holinski-Feder E, Lifton RP, Thiele H, Hoffmann P, Steinke V, Aretz S. Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas. Int J Cancer 2015 Jul;137:320-31. doi: 10.1002/ijc.29396.

Hinrichsen I, Schäfer D, Langer D, Köger N, Wittmann M, Aretz S, Steinke V, Holzapfel S, Trojan J, König R, Zeuzem S, Brieger A, Plotz G. Functional testing strategy for coding genetic variants of unclear significance in MLH1 in Lynch syndrome diagnosis. Carcinogenesis 2015;36:202-11. doi: 10.1093/carcin/bgu239. PMID: 25477341.

Aretz S, Vasen HF, Olschwang S (2014). Clinical utility gene card for: Familial adenomatous polyposis (FAP) and attenuated FAP (AFAP) – update 2014. Eur J Hum Genet 2015;23(6). doi: 10.1038/ejhg.2014.193.

Horpaopan S, Spier I, Zink AM, Altmüller J, Holzapfel S, Laner A, Vogt S, Uhlhaas S, Heilmann S, Stienen D, Pasternack SM, Keppler K, Adam R, Kayser K, Moebus S, Draaken M, Degenhardt F, Engels H, Hofmann A, Nöthen MM, Steinke V, Perez-Bouza A, Herms S, Holinski-Feder E, Fröhlich H, Thiele H, Hoffmann P, Aretz S. Genome-wide CNV analysis in 221 unrelated patients and targeted high-throughput sequencing reveal novel causative candidate genes for colorectal adenomatous polyposis. Int J Cancer 2015;136:E578-89. doi: 10.1002/ijc.29215.

Kaufmann A, Aretz S (2015). Grundlagen der gastrointestinalen Tumorerkrankungen ­– Erbliche Tumorformen. In: Erckenbrecht JF, Jonas S (Hrsg): Viszeralmedizin – ein gastroenterologisch-viszeralchirurgischer Leitfaden. Springer-Verlag Berlin Heidelberg, S. 413-421.

Timofeeva MN, Kinnersley B, Farrington SM, Whiffin N, Palles C, Svinti V, Lloyd A, Gorman M, Ooi LY, Hosking F, Barclay E, Zgaga L, Dobbins S, Martin L, Theodoratou E, Broderick P, Tenesa A, Smillie C, Grimes G, Hayward C, Campbell A, Porteous D, Deary IJ, Harris SE, Northwood EL, Barrett JH, Smith G, Wolf R, Forman D, Morreau H, Ruano D, Tops C, Wijnen J, Schrumpf M, Boot A, Vasen HF, Hes FJ, van Wezel T, Franke A, Lieb W, Schafmayer C, Hampe J, Buch S, Propping P, Hemminki K, Försti A, Westers H, Hofstra R, Pinheiro M, Pinto C, Teixeira M, Ruiz-Ponte C, Fernández-Rozadilla C, Carracedo A, Castells A, Castellví-Bel S, Campbell H, Bishop DT, Tomlinson IP, Dunlop MG, Houlston RS. Recurrent Coding Sequence Variation Explains Only A Small Fraction of the Genetic Architecture of Colorectal Cancer. Sci Rep. 2015 Nov 10;5:16286. doi: 10.1038/srep16286.

Aretz S, Vasen HF, Olschwang S (2014). Clinical utility gene card for: Familial adenomatous polyposis (FAP) and attenuated FAP (AFAP) – update 2014. Eur J Hum Genet. 2015 Jun;23(6). doi: 10.1038/ejhg.2014.193.

Horpaopan S, Spier I, Zink AM, Altmüller J, Holzapfel S, Laner A, Vogt S, Uhlhaas S, Heilmann S, Stienen D, Pasternack SM, Keppler K, Adam R, Kayser K, Moebus S, Draaken M, Degenhardt F, Engels H, Hofmann A, Nöthen MM, Steinke V, Perez-Bouza A, Herms S, Holinski-Feder E, Fröhlich H, Thiele H, Hoffmann P, Aretz S. Genome-wide CNV analysis in 221 unrelated patients and targeted high-throughput sequencing reveal novel causative candidate genes for colorectal adenomatous polyposis. Int J Cancer. 2015 Mar 15;136(6):E578-89. doi: 10.1002/ijc.29215.

2014

Schulz E, Klampfl P, Holzapfel S, Janecke AR, Ulz P, Renner W, Kashofer K, Nojima S, Leitner A, Zebisch A, Wölfler A, Hofer S, Gerger A, Lax S, Beham-Schmid C, Steinke V, Heitzer E, Geigl JB, Windpassinger C, Hoefler G, Speicher MR, Richard Boland C, Kumanogoh A, Sill H. Germline variants in the SEMA4A gene predispose to familial colorectal cancer type X. Nat Commun 2014 Oct 13;5:5191. doi: 10.1038/ncomms6191.

Aretz S (2014). Erbliche Tumorsyndrome. In: Moog U, Rieß O (Hrsg): Medizinische Genetik für die Praxis. Diagnostik, Beratung, Fallbeispiele. Georg Thieme Verlag Stuttgart New York 2014. S. 151-182.

Weinhold N, Försti A, da Silva Filho MI, Nickel J, Campo C, Hoffmann P, Nöthen MM, Hose D, Goldschmidt H, Jauch A, Langer C, Hegenbart U, Schönland SO, Hemminki K. Immunoglobulin light-chain amyloidosis shares genetic susceptibility with multiple myeloma. Leukemia. 2014;28:2254-6. doi: 10.1038/leu.2014.208.

Trautmann M, Sievers E, Aretz S, Kindler D, Michels S, Friedrichs N, Renner M, Kirfel J, Steiner S, Huss S, Koch A, Penzel R, Larsson O, Kawai A, Tanaka S, Sonobe H, Waha A, Schirmacher P, Mechtersheimer G, Wardelmann E, Büttner R, Hartmann W. SS18/SSX fusion protein-induced Wnt/β-catenin signaling is a therapeutic target in synovial sarcoma. Oncogene 2014;33:5006-16. doi: 10.1038/onc.2013.443.

Aretz S, Propping P (2014). Prävention somatischer Krankheiten durch die Humangenetik. In Hurrelmann, K.; Klotz, Th.; Haisch, J. (Hrsg): Lehrbuch Prävention und Gesundheitsförderung; 4., vollständig überarbeitete Auflage, Verlag Hans Huber, S. 214-231.

Nieuwenhuis MH, Kets CM, Murphy-Ryan M, Yntema HG, Evans DG, Colas C, Møller P, Hes FJ, Hodgson SV, Olderode-Berends MJ, Aretz S, Heinimann K, Gómez García EB, Douglas F, Spigelman A, Timshel S, Lindor NM, Vasen HF. Cancer risk and genotype-phenotype correlations in PTEN hamartoma tumor syndrome. Fam Cancer 2014;13:57-63. doi: 10.1007/s10689-013-9674-3.

Hinrichsen I, Ernst BP, Nuber F, Passmann S, Schäfer D, Steinke V, Friedrichs N, Plotz G, Zeuzem S, Brieger A. Reduced migration of MLH1 deficient colon cancer cells depends on SPTAN1. Mol Cancer 2014 Jan 24;13:11. doi: 10.1186/1476-4598-13-11.

Aretz S, Tricarico R, Papi L, Spier I, Pin E, Horpaopan S, Cordisco EL, Panza A, Pedroni M, Stienen D, Piepoli A, Ponz de Leon M, Friedl W, Viel A, Genuardi M (2013). MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events. Eur J Hum Genet 2014;22:923-929. doi: 10.1038/ejhg.2012.309.

Steinke V, Holzapfel S, Loeffler M, Holinski-Feder E, Morak M, Schackert HK, Görgens H, Pox C, Royer-Pokora B, Knebel-Doeberitz M, Büttner R, Propping P, Engel C (2013). Evaluating the performance of clinical criteria for predicting mismatch repair gene mutations in Lynch syndrome: A comprehensive analysis of 3671 families. Int J Cancer 2014 135:69-77. doi: 10.1002/ijc.28650.

Yang R, Chen B, Pfütze K, Buch S, Steinke V, Holinski-Feder E, Stöcker S, 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. Genome-wide analysis associates familial colorectal cancer with increases in copy number variations and a rare structural variation at 12p12.3. Carcinogenesis 2014;35:315-23. doi: 10.1093/carcin/bgt344.

2013

West H, Harris R, Idziaszczyk S, Maughan TS, Kaplan R, Richman S, Quirke P, Seymour M, Moskvina V, Steinke V, Propping P, Hes FJ, Wijnen J, Cheadle JP. Role of the oxidative DNA damage repair gene OGG1 in colorectal tumorigenesis. Smith CG, J Natl Cancer Inst. 2013 Aug 21;105(16):1249-53. doi: 10.1093/jnci/djt183. Epub 2013 Jul 12.

Steinke V, Engel C, Büttner R, Schackert HK, Schmiegel WH, Propping P. Hereditary nonpolyposis colorectal cancer (HNPCC)/Lynch syndrome. Dtsch Arztebl Int. 2013 Jan;110(3):32-8.

Zabaa O, Holbea D, Aretz S, Grohéa C. LKB1 mutant in a KRAS activated adenocarcinoma of the lung associated with Peutz–Jeghers syndrome: A case report. Lung Cancer. 2013 Nov;82(2):368-9

Pin E, Pastrello C, Tricarico R, Papi L, Quaia M, Fornasarig M, Carnevali I, Oliani C, Fornasin A, Agostini M, Maestro R, Barana D, Aretz S, Genuardi M, Viel A (2013). MUTYH c.933+3A>C, associated with a severely impaired gene expression, is the first Italian founder mutation in MUTYH-Associated Polyposis. Int J Cancer 132:1060-9.

Pox C, Aretz S, Bischoff SC, Graeven U, Hass M, Heußner P, Hohenberger W, Holstege A, Hübner J, Kolligs F, Kreis M, Lux P, Ockenga J, Porschen R, Post S, Rahner N, Reinacher-Schick A, Riemann JF, Sauer R, Sieg A, Scheppach W, Schmitt W, Schmoll HJ, Schulmann K, Tannapfel A, Schmiegel W (2013). S3-Leitlinie Kolorektales Karzinom (Version 1.0 – Juni 2013; AWMF-Registernummer: 021/007OL). Z Gastroenterol. 2013;51:753-854.

Spier I, Holzapfel S, Steinke V, Aretz S (2013). Genetik gastrointestinaler Tumorem – Welche Folgen haben Keimbahnmutationen? Gastroenterologe 2013;8:303-315.

Vasen HF, Blanco I, Aktan-Collan K, Gopie JP, Alonso A, Aretz S, Bernstein I, Bertario L, Burn J, Capella G, Colas C, Engel C, Frayling IM, Genuardi M, Heinimann K, Hes FJ, Hodgson SV, Karagiannis JA, Lalloo F, Lindblom A, Mecklin JP, Møller P, Myrhoj T, Nagengast FM, Parc Y, Ponz de Leon M, Renkonen-Sinisalo L, Sampson JR, Stormorken A, Sijmons RH, Tejpar S, Thomas HJ, Rahner N, Wijnen JT, Järvinen HJ, Möslein G. Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts. Gut. 2013 Jun;62(6):812-23.

Aretz S, Genuardi M, Hes FJ (2013). Clinical utility gene card for: MUTYH-associated polyposis (MAP), autosomal recessive colorectal adenomatous polyposis. European Journal of Human Genetics. Jan;21(1). doi: 10.1038/ejhg.2012.163

Smith CG, West H, Harris R, Idziaszczyk S, Maughan TS, Kaplan R, Richman S, Quirke P, Seymour M, Moskvina V, Steinke V, Propping P, Hes FJ, Wijnen J, Cheadle JP. Role of the oxidative DNA damage repair gene OGG1 in colorectal tumorigenesis. J Natl Cancer Inst. 2013 Aug 21;105(16):1249-53. doi: 10.1093/jnci/djt183. Epub 2013 Jul 12.

2012

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, García EG, Hes FJ, Hoogerbrugge N, Menko FH, van Os TA, Sijmons RH, Wagner A, Kluijt I, Propping P, Vasen HF. Risks of less common cancers in proven mutation carriers with lynch syndrome. J Clin Oncol. 2012 Dec 10;30(35):4409-15.

Heindl M, Händel N, Ngeow J, Kionke J, Wittekind C, Kamprad M, Rensing-Ehl A, Ehl S, Reifenberger J, Loddenkemper C, Maul J, Hoffmeister A, Aretz S, Kiess W, Eng C, Uhlig HH (2012). Autoimmunity, intestinal lymphoid hyperplasia and defects in mucosal B cell homeostasis in PTEN hamartoma tumor syndrome. Gastroenterology 142:1093-1096.e6.

Nieuwenhuis MH, Marleen Kets C, Murphy-Ryan M, Colas C, Möller P, Hes FJ, Hodgson SV, Olderode-Berends MJ, Aretz S, Heinimann K, Gomez Garcia EB, Douglas F, Spigelman A, Timshel S, Lindor NM, Vasen HF (2012). Is colorectal surveillance indicated in patients with PTEN mutations? Colorectal Dis. 14(9):e562-6.

Nieuwenhuis MH, Vogt S, Jones N, Nielsen M, Hes FJ, Sampson JR, Aretz S, Vasen HF (2012). Evidence for accelerated colorectal adenoma-carcinoma progression in MUTYH-associated polyposis? Gut 61:734-8.

Rahner N, Brockschmidt FF, Steinke V, Kahl P, Becker T, Vasen HF, Wijnen JT, Tops CJ, Holinski-Feder E, Ligtenberg MJ, Spruijt L, Görgens H, Stemmler S, Kloor M, Dietmaier W; Dutch Cancer Genetics Group, Schumacher J, Nöthen MM, Propping P. Mutation and association analyses of the candidate genes ESR1, ESR2, MAX, PCNA, and KAT2A in patients with unexplained MSH2-deficient tumors. Fam Cancer. 2012 Mar;11(1):19-26.

Spier I, Horpaopan S, Vogt S, Uhlhaas S, Morak M, Stienen D, Draaken M, Ludwig M, Holinski-Feder E, Nöthen MM, Hoffmann P, Aretz S (2012). Deep intronic APC mutations explain a substantial proportion of patients with familial or early-onset adenomatous polyposis. Hum Mutat 33:1045-50.

Spier I, Aretz S (2012). Polyposissyndrome des Gastrointestinaltraktes. Der Internist 53:371-383.

2011

Aretz S (2011). Familiäre adenomatöse Polyposis und andere Polyposis-Syndrome – humangenetischer Blickwinkel. Viszeralmedizin 27:281-289.

Aretz S, Vasen HF, Olschwang S (2011). Clinical utility gene card for: Familial adenomatous polyposis (FAP) and attenuated FAP (AFAP). Eur J Hum Genet, doi: 10.1038/ejhg.2011.7

Carrai M, Steinke V, Vodicka P, Pardini B, Rahner N, Holinski-Feder E, Morak M, Schackert HK, Görgens H, Stemmler S, Betz B, Kloor M, Engel C, Büttner R, Naccarati A, Vodickova L, Novotny J, Stein A, Hemminki K, Propping P, Försti A, Canzian F, Barale R, Campa D. Association between TAS2R38 gene polymorphisms and colorectal cancer risk: a case-control study in two independent populations of Caucasian origin. PLoS One. 2011;6(6):e20464.

Gullotti L, Czerwitzki J, Kirfel J, Propping P, Rahner N, Steinke V, Kahl P, Engel C, Schüle R, Buettner R, Friedrichs N. FHL2 expression in peritumoural fibroblasts correlates with lymphatic metastasis in sporadic but not in HNPCC-associated colon cancer. Lab Invest. 2011 Dec;91(12):1695-705.

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. Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies. Fam Cancer. 2011 Jun;10(2):273-84.

Huhn S, Ingelfinger D, Bermejo JL, Bevier M, Pardini B, Naccarati A, Steinke V, Rahner N, Holinski-Feder E, Morak M, Schackert HK, Görgens H, Pox CP, Goecke T, Kloor M, Loeffler M, Büttner R, Vodickova L, Novotny J, Demir K, Cruciat CM, Renneberg R, Huber W, Niehrs C, Boutros M, Propping P, Vodièka P, Hemminki K, Försti A. Polymorphisms in CTNNBL1 in relation to colorectal cancer with evolutionary implications. Int J Mol Epidemiol Genet. 2011 Jan 1;2(1):36-50.

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. Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study. Lancet Oncol. 2011 Jan;12(1):49-55.

Kohonen-Corish MR, Macrae F, Genuardi M, Aretz S, Bapat B, Bernstein IT, Burn J, Cotton RG, den Dunnen JT, Frebourg T, Greenblatt MS, Hofstra R, Holinski-Feder E, Lappalainen I, Lindblom A, Maglott D, Møller P, Morreau H, Möslein G, Sijmons R, Spurdle AB, Tavtigian S, Tops CM, Weber TK, de Wind N, Woods MO; on behalf of Contributors to the InSiGHT-HVP Workshop (2011). Deciphering the colon cancer genes – report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010. Hum Mutat 32:491-4.

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. Recurrence and variability of germline EPCAM deletions in Lynch syndrome. Hum Mutat. 2011 Apr;32(4):407-14.

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. Biallelic MLH1 SNP cDNA expression or constitutional promoter methylation can hide genomic rearrangements causing Lynch syndrome. J Med Genet. 2011 Aug;48(8):513-9.

Qiu J, Hutter P, Rahner N, Patton S, Olschwang S. The educational role of external quality assessment in genetic testing: a 7-year experience of the European Molecular Genetics Quality Network (EMQN) in Lynch syndrome. Hum Mutat. 2011 Jun;32(6):696-7.

2010

Aretz S, Hes FJ (2010). Clinical utility gene card for: MUTYH-associated polyposis (MAP), autosomal recessive colorectal adenomatous polyposis. European Journal of Human Genetics. Epub 2010 May 26

Aretz S (2010). The differential diagnosis and surveillance of hereditary gastrointestinal polyposis syndromes [Differentialdiagnostik und Früherkennung hereditärer gastrointesti-naler Polyposis-Syndrome]. Deutsches Ärzteblatt International 107:163-173.

Aretz S (2010) Erbliche Polyposis-Syndrome des Magendarmtraktes: Genetische Untersuchungen zur Aufklärung der Heterogenität adenomatöser Polyposis-Syndrome (Habilitationsschrift). Südwestdeutscher Verlag für Hochschulschriften (ISBN 978-3-8381-1543-6).

Beggs AD, Latchford AR, Vasen HFA, Möslein G, Alonso A, Aretz S, Bertario L, Blanco I, Bülow S, Burn J, Capella G, Colas C, Friedl W, Moller P, Hes FJ, Järvinen H, Mecklin JP, Nagengast FM, Park Y, Phillips RKS, Hyer W, Ponz de Leon M, Renkonen-Sinisalo L, Sampson JR, Stormorken A, Tejpar S, Thomas HJW, Wijnen JT, Clark SK, Hodgson SV (2010). Peutz-Jeghers Syndrome: a systematic review and recommendations for management. Gut 59:975-986.

Campa D, Pardini B, Naccarati A, Vodickova L, Novotny J, Steinke V, Rahner N, Holinski-Feder E, Morak M, Schackert HK, Gorgens H, Kotting J, Betz B, Kloor M, Engel C, Buttner R, Propping P, Forsti A, Hemminki K, Barale R, Vodicka P, Canzian F. Polymorphisms of genes coding for ghrelin and its receptor in relation to colorectal cancer risk: a two-step gene-wide case-control study. BMC Gastroenterol. 2010 Sep 28;10:112.

Engel C, Rahner N, Schulmann K, Holinski-Feder E, Goecke TO, Schackert HK, Kloor M, Steinke V, Vogelsang H, Moslein G, Gorgens H, Dechant S, von Knebel Doeberitz M, Ruschoff J, Friedrichs N, Buttner R, Loeffler M, Propping P, Schmiegel W. Efficacy of annual colonoscopic surveillance in individuals with hereditary nonpolyposis colorectal cancer. Clin Gastroenterol Hepatol. 2010 Feb;8 (2):174-82.

Friedl W, Propping P. Disposition für erbliche Krebserkrankungen. In: W. Hiddemann, C. Bartram (Her.-geb) Die Onkologie. Springer, Heidelberg. 2010:128-150

Jones N, Nielsen M, Vogt S, Tops CM, Vasen HFA, Hes FJ, Aretz S, Sampson JR (2010). MUTYH-associated polyposis. In: Rodriguez-Bigas MA, Cutait R, Lynch PM, Tomlinson I, Vasen HFA (Hrsg): Hereditary Colorectal Cancer (M.D. Anderson Solid Tumor Oncology), Part VI, Clinical Science: MYH associated polyposis. Springer Verlag, Berlin, S. 349-364.

Lascorz J, Forsti A, Chen B, Buch S, Steinke V, Rahner N, Holinski-Feder E, Morak M, Schackert HK, Gorgens H, Schulmann K, Goecke T, Kloor M, Engel C, Buttner R, Kunkel N, Weires M, Hoffmeister M, Pardini B, Naccarati A, Vodickova L, Novotny J, Schreiber S, Krawczak M, Broring CD, Volzke H, Schafmayer C, Vodicka P, Chang-Claude J, Brenner H, Burwinkel B, Propping P, Hampe J, Hemminki K. Genome-wide association study for colorectal cancer identifies risk polymorphisms in German familial cases and implicates MAPK signalling pathways in disease susceptibility. Carcinogenesis. 2010 Sep;31(9):1612-9.

Morreau H, Riddell RH, Aretz S (2010). MUTYH-associated polyposis. In: WHO Classification of Tumours of the Digestive System, 4th edition, IARC, Lyon. S. 156-159.

Nielsen M, van Steenbergen LN, Jones N, Vogt S, Vasen HF, Morreau H, Aretz S, Sampson JR, Dekkers OM, Janssen-Heijnen ML, Hes FJ (2010). Survival of MUTYH-Associated Polyposis Patients With Colorectal Cancer and Matched Control Colorectal Cancer Patients. J Natl Cancer Inst 102:1724-30.

Out AA, Tops CM, Nielsen M, Weiss MM, van Minderhout IJ, Fokkema IF, Buisine MP, Claes K, Colas C, Fodde R, Fostira F, Franken PF, Gaustadnes M, Heinimann K, Hodgson SV, Hogervorst FB, Holinski-Feder E, Lagerstedt-Robinson K, Olschwang S, van den Ouweland AM, Redeker EJ, Scott RJ, Vankeirsbilck B, Grønlund RV, Wijnen JT, Wikman FP, Aretz S, Sampson JR, Devilee P, den Dunnen JT, Hes FJ (2010). Leiden open variation database of the MUTYH gene. Human Mutation 31:1205-15.

Rahner N, Steinke V, Schlegelberger B, Olschwang S, Eisinger F, Hutter P. Clinical utility gene card for: Lynch syndrome (MLH1, MSH2, MSH6, PMS2). Eur J Hum Genet. 2010 Sep;18(9).

Ripperger T, Beger C, Rahner N, Sykora KW, Bockmeyer CL, Lehmann U, Kreipe HH, Schlegelberger B. Constitutional mismatch repair deficiency and childhood leukemia/lymphoma–report on a novel biallelic MSH6 mutation. Haematologica. 2010 May;95(5):841-4.
Salloch H, Reinacher-Schick A, Schulmann K, Pox C, Willert J, Tannapfel A, Heringlake S, Goecke TO, Aretz S, Stemmler S, Schmiegel W (2010). Truncating mutations in Peutz-Jeghers syndrome are associated with more polyps, surgical interventions and cancers. Int J Colorectal Dis 25:97-107.

Steinke V, Rahner N, Aretz S, Propping P (2010). Genetische Diagnostik erblicher Tumorerkrankungen. Wie zuverlässig ist die Diagnostik? FORUM 25:23-25.

Steinke V, Vogt S, Aretz S (2010). Klinik und Genetik des familiären Dickdarmkrebses. Medizinische Genetik 22:265-281.

Vasen HF, Möslein G, Alonso A, Aretz S, Bernstein I, Bertario L, Blanco I, Bulow S, Burn J, Capella G, Colas C, Engel C, Frayling I, Rahner N, Hes FJ, Hodgson S, Mecklin JP, Møller P, Myrhøj T, Nagengast FM, Parc Y, Ponz de Leon M, Renkonen-Sinisalo L, Sampson JR, Stormorken A, Tejpar S, Thomas HJ, Wijnen J, Lubinski J, Järvinen H, Claes E, Heinimann K, Karagiannis JA, Lindblom A, Dove-Edwin I, Müller H (2010). Recommendations to improve identification of hereditary and familial colorectal cancer in Europe. Fam Cancer 9:109-115.

Vogt S, Jones N, Christian D, Engel C, Nielsen M, Kaufmann A, Steinke V, Vasen HF, Propping P, Sampson JR, Hes FJ, Aretz S (2009). Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. Gastroenterology 137:1976-85.

Manekeller S, Sauerbruch T, Fischer HP, Propping P, Hirner A. [Heterozygous alpha-1-antitrypsin deficiency (PiMZ): risk factor in the development of primary liver carcinoma in non-cirrhotic liver?].
Z Gastroenterol. 2010 Oct;48(10):1211-4. doi: 10.1055/s-0029-1245204. Epub 2010 Sep 30. Review. German.

Schmiegel W, Pox C, Reinacher-Schick A, Adler G, Arnold D, Fleig W, Fölsch UR, Frühmorgen P, Graeven U, Heinemann V, Hohenberger W, Holstege A, Junginger T, Kopp I, Kühlbacher T, Porschen R, Propping P, Riemann JF, Rödel C, Sauer R, Sauerbruch T, Schmitt W, Schmoll HJ, Seufferlein T, Zeitz M, Selbmann HK; Federal Committee of Physicians and Health Insurers. S3 guidelines for colorectal carcinoma: results of an evidence-based consensus conference on February 6/7, 2004 and June 8/9, 2007 (for the topics IV, VI and VII). Z Gastroenterol. 2010 Jan;48(1):65-136. doi: 10.1055/s-0028-1109936. Epub 2010 Jan 13. No abstract available.

2009

Andresen PA, Heimdal K, Aaberg K, Eklo K, Ariansen S, Silye A, Fausa O, Aabakken L, Aretz S, Eide TJ, Gedde-Dahl T Jr. (2009). APC mutation spectrum of Norwegian familial adenomatous polyposis families: high ratio of novel mutations. J Cancer Res Clin Oncol 135:1463-1470.

Hüneburg R, Lammert F, Rabe C, Rahner N, Kahl P, Büttner R, Propping P, Sauerbruch T, Lamberti C. Chromocolonoscopy detects more adenomas than white light colonoscopy or narrow band imaging colonoscopy in hereditary nonpolyposis colorectal cancer screening. Endoscopy. 2009 Apr;41(4):316-22.

Jones N, Vogt S, Nielsen M, Christian D, Wark PA, Eccles D, Edwards E, Evans DG, Maher ER, Vasen HF, Hes FJ, Aretz S and Sampson JR (2009). Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH. Gastroenterology 137:489-494.

Kaput J, Cotton RGH, Hardman L, Al Aqeel AI, Al-Aama JY, Al-Mulla F, Aretz S, Auerbach AD, Axton M, Bapat B, Bernstein IT, Bhak J, Bleoo SL, Blöcker H, Brenner SE, Burn J, Bustamante M, Calzone R, Cambon-Thomsen A, Cargill M, Carrera P, Cavedon L, Cho YS, Chung YJ, Claustres M, Cutting G, Dalgleish R, den Dunnen JT, Díaz C, Dobrowolski S, dos Santos MRN, Ekong R, Flanagan SB, Flicek P, Furukawa Y, Genuardi M, Ghang H, Golubenko MV, Greenblatt MS, Hamosh A, Hancock JM, Hardison R, Harrison TM, Hoffmann R, Horaitis R, Howard HJ, Isaacson Barash C, Izagirre N, Jung J, Kojima T, Laradi S, Lee YS, Lee JY, Gil-da-Silva-Lopes VL, Macrae FA, Maglott D, Marafie MJ, Marsh SGE, Matsubara Y, Messiaen LM, Möslein G, Netea MG, Norton ML, Oefner PJ, Oetting WS, O’Leary JC, Oller de Ramirez AM, Paalman MH, Parboosingh J, Patrinos GP, Perozzi G, Ian R. Phillips IR, Povey S, Prasad S, Qi M, Quin DJ, Ramesar RS, Richards CS, Savige J, Scheible DG, Scott RJ, Seminara D, Shephard EA, Sijmons RH, Smith TD, Sobrido MJ, Tanaka T, Tavtigian SV, Taylor GR, Teague J, Töpel T, Ullman-Cullere M, Utsunomiya J, van Kranen HJ, Vihinen M, Watson M, Webb E, Weber TK, Yeager M, Yeom YI, Yim SH, Yoo HS, on behalf of contributors to the Human Variome Project Planning Meeting (2009). Planning the Human Variome Project: The Spain Report. Human Mutation 30:496-510.

Kaufmann A, Vogt S, Uhlhaas S, Stienen D, Kurth I, Hameister H, Mangold E, Kötting J, Kaminsky E, Propping P, Friedl W, Aretz S (2009). Analysis of rare APC variants at mRNA level: six pathogenic mutations and literature review. Journal of Molecular Diagnostics 11:131-139.

Nielsen M, Joerink – van de Beld MC, Jones N, Vogt S, Tops CM, Vasen HFA, Sampson JR, Aretz S, Hes FJ (2009). Analysis of MUTYH Genotypes and Colorectal Phenotypes in Patients with MUTYH-Associated Polyposis. Gastroenterology 136:471-476. (IF 11,67 x 0,5 = 5,84)

Propping P. Genetische Krebsdiagnostik. Fluch oder Segen für die Patienten? Onkologe. 2009:15: 1015-1020.

Reutter H, Kreiß-Nachtsheim M, Mangold E, Meiser W, Hollmann H, Aretz S (2009). Makrozephalie, Entwicklungsverzögerung, Lentiginose der Glans penis und familiäre Dickdarmpolyposis. Monatsschrift Kinderheilkunde 157:322-326.
Vogt S, Jones N, Christian D, Engel C, Nielsen M, Kaufmann A, Steinke V, Vasen HF, Propping P, Sampson JR, Hes FJ, Aretz S. Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. Gastroenterology 2009 Dec;137(6):1976-85 e1-10.

2008

Frank B, Burwinkel B, Bermejo JL, Forsti 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, Kruger S, Goecke T, Moeslein G, Kloor M, Gebert J, Kunstmann E, Schulmann K, Ruschoff J, Propping P. Ten recently identified associations between nsSNPs and colorectal cancer could not be replicated in German families. Cancer Lett 2008 Nov 18;271(1):153-7.

Gottschling S, Reinhard H, Pagenstecher C, Krüger S, Raedle J, Plotz G, Henn W, Buettner R, Meyer S, Graf N. Hypothesis: Possible role of retinoic acid therapy in patients with biallelic mismatch repair gene defects. Eur J Pediatr. 2008 Feb;167(2):225-9.

Papaemmanuil E, Carvajal-Carmona L, Sellick GS, Kemp Z, Webb E, Spain S, Sullivan K, Barclay E, Lubbe S, Jaeger E, Vijayakrishnan J, Broderick P, Gorman M, Martin L, Lucassen A, Bishop DT, Evans DG, Maher ER, Steinke V, Rahner N, Schackert HK, Goecke TO, Holinski-Feder E, Propping P, Van Wezel T, Wijnen J, Cazier JB, Thomas H, Houlston RS, Tomlinson I; CORGI Consortium. Deciphering the genetics of hereditary non-syndromic colorectal cancer. Eur J Hum Genet. 2008 Dec;16(12):1477-86.

Rahner N, Steinke V. Erbliche Krebserkrankungen. Dtsch Arztebl Int. 2008 Oct;105(41):706-14.

Schulmann K, Engel C, Propping P, Schmiegel W. Small bowel cancer risk in Lynch syndrome. Gut. 2008 Nov;57(11):1629-30.

Aretz S, Friedl W (2008). Opinion on moderate/low cancer genetic risk markers in medical practice. Hereditary Cancer in Clinical Practice 6:61-63.

Friedl W, Vogt S (2008). Gastrointestinal Polyposis Syndromes. Allgayer H, Rehder H, Fulda S. (Hrsg.), Hereditary Tumors – From Genes to Clinical Consequences 1. Auflage, Wiley-VCH, Weinheim

Grünhage F, Jungck M, Lamberti C, Schulte-Witte H, Plassmann D, Becker U, Rahner N, Aretz S, Friedrichs N, Buettner R, Sauerbruch T, Lammert F (2008). Contribution of common monoalleleic MUTYH gene variants in German patients with familial colorectal cancer. Cancer Biomarkers 4:55-61.

Grünhage F, Jungck M, Lamberti C, Keppeler H, Becker U, Schulte-Witte H, Plassmann D, Friedrichs N, Buettner R, Aretz S, Sauerbruch T, Lammert F (2008). Effects of common haplotypes of the ileal sodium dependent bile acid transporter gene on the development of sporadic and familial colorectal cancer: a case control study. BMC Medical Genetics 9:70.

Grünhage F, Jungck M, Lamberti C, Berg C, Becker U, Schulte-Witte H, Rahner N, Aretz S, Friedrichs N, Büttner R, Sauerbruch T, Lammert F (2008). Association of familial colorectal cancer with variants in the E-cadherin (CDH1) and cyclin D1 (CCND1) genes. International Journal of Colorectal Disease 23:147-54.

Steinke V, Rahner N, Morak M, Keller G, Schackert HK, Görgens H, Schmiegel W, Briitte Royer-Pokora B, Dietmaier W, Kloor M, Engel C, Propping P, Aretz S (2008). No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients. European Journal of Human Genetics 2008;16:587-592.

Rahner N, Höefler G, Högenauer C, Lackner C, Steinke V, Sengteller M, Friedl W, Aretz S, Propping P, Mangold E, Walldorf C (2008). Compound heterozygosity for two MSH6 mutations in a patient with early onset colorectal cancer, vitiligo and systemic lupus erythematosus. American Journal of Medical Genetics A 146A:1314-9.

Rahner N, Friedrichs N, Steinke V, Aretz S, Friedl W, Buettner R, Mangold E, Propping P, Walldorf C (2008). Coexisting somatic promoter hypermethylation and pathogenic MLH1 germline mutation in Lynch syndrome. Journal of Pathology 214:10-16.

Romero-Giménez J, Dopeso H, Blanco I, Guerra-Moreno A, Gonzalez S, Vogt S, Aretz S, Schwartz S Jr, Capella G, Arango D (2008). Germline hypermethylation of the APC promotor is not a frequent cause of familial adenomatous polyposis in APC/MUTYH mutation negative families. International Journal of Cancer 122:1422-5.

Vasen HFA, Möslein G, Alonso A, Aretz S, Bernstein I, Bertario L, Blanco I, Bulow S, Burn J, Capella G, Colas C, Engel C, Frayling I, Friedl W, Hes FJ, Hodgson S, Järvinen H, Mecklin J-P, Møller P, Myrrhoi T, Nagengast F, Parc Y, Phillips R, Ponz de Leon M, Renkonen-Sinisalo L, Sampson JR, Stormorken A, Tejpar S, Thomas H, Wijnen J (2008): Guidelines for the clinical management of familial adenomatous polyposis (FAP). Gut 57:704-713.

2007

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

Lamberti C, Lundin S, Bogdanow M, Pagenstecher C, Friedrichs N, Büttner R, Sauerbruch T. Microsatellite instability did not predict individual survival of unselected patients with colorectal cancer. Int J Colorectal Dis. 2007 Feb;22(2):145-52.
Liu X, Shan X, Friedl W, Uhlhaas S, Propping P, Li J, Wang Y. May the APC gene somatic mutations in tumor tissues influence the clinical features of Chinese sporadic colorectal cancer? Acta Oncol. 2007 Jan;46(6):757-62.

Mangold E, Rahner N, Friedrichs N, Buettner R, Pagenstecher C, Aretz S, Friedl W, Ruzicka T, Propping P, Rütten A, Kruse R. MSH6 mutation in Muir-Torre syndrome: could this be a rare finding? Br J Dermatol. 2007 Jan;156(1):158-62.

Rahner N, Friedrichs N, Wehner M, Steinke V, Aretz S, Friedl W, Buettner R, Mangold E, Propping P, Walldorf C. Nine novel pathogenic germline mutations in MLH1, MSH2, MSH6 and PMS2 in families with Lynch syndrome. Acta Oncol. 2007 Jan;46(6):763-9.

Aretz S, Stienen D, Uhlhaas S, Stolte M, Entius MM, Loff S, Back W, Kaufmann A, Keller KM, Blaas SH, Siebert R, Vogt S, Spranger S, Holinski-Feder E, Sunde L, Propping P , Friedl W(2007). High Proportion of Large Genomic Deletions and Genotype-Phenotype Update in 80 Unrelated Families with Juvenile Polyposis Syndrome. Journal of Medical Genetics 44:702-709.

Aretz S, Stienen D, Friedrichs N, Stemmler S, Uhlhaas S, Rahner N, Propping P, Friedl W (2007). Somatic APC mosaicism: a frequent cause of familial adenomatous polyposis (FAP). Human Mutation 28:985-992.

Pagenstecher C, Gadzicki D, Stienen D, Uhlhaas S, Mangold E, Rahner N, Arslan-Kirchner M, Propping P, Friedl W, Aretz S (2007). A complex rearrangement in the APC gene uncovered by MLPA. The Journal of Molecular Diagnostics 9:122-126.

2006

Aretz S, Propping P, Nöthen MM. Indikationen zur molekulargenetischen Diagnostik bei erblichen Krankheiten. Dtsch Ärztebl. 2006:103: A-550-558

Görgens H, Krüger S, Kuhlisch E, Pagenstecher C, Höhl R, Schackert HK, Müller A. Microsatellite stable colorectal cancers in clinically suspected hereditary nonpolyposis colorectal cancer patients without vertical transmission of disease are unlikely to be caused by biallelic germline mutations in MYH. J Mol Diagn. 2006 May;8(2):178-82.

Kruger S, Engel C, Bier A, Mangold E, Pagenstecher C, Doeberitz MK, Holinski-Feder E, Moeslein G, Keller G, Kunstmann E, Friedl W, Plaschke J, Ruschoff J, Schackert HK. Absence of association between cyclin D1 (CCND1) G870A polymorphism and age of onset in hereditary nonpolyposis colorectal cancer. Cancer Lett 2006 May;18;236 (2):191-7.

Pistorius S, Gorgens H, Kruger S, Engel C, Mangold E, Pagenstecher C, Holinski-Feder E, Moeslein G, von Knebel Doeberitz M, Ruschoff J, Karner-Hanusch J, Saeger HD, Schackert HK, The German H-C. N-acetyltransferase (NAT) 2 acetylator status and age of onset in patients with hereditary nonpolyposis colorectal cancer (HNPCC). Cancer Lett 2006 Sep 8;241 (1):150-7.

Aretz S, Koch A, Uhlhaas S, Friedl W, Propping P, Schweinitz DV, Pietsch T (2006). Should children at risk for familial adenomatous polyposis be screened for hepatoblastoma and children with apparently sporadic hepatoblastoma be screened for APC germline mutations? Pediatric Blood & Cancer 47: 811-818.

Aretz S, Uhlhaas S, Goergens H, Siberg K, Vogel M, Pagenstecher C, Mangold E, Caspari R, Propping P, Friedl W. MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype. Int J Cancer. 2006 Aug 15;119(4):807-14.

Engel C, Forberg J, Holinski-Feder E, Pagenstecher C, Plaschke J, Kloor M, Poremba C, Pox CP, Ruschoff J, Keller G, Dietmaier W, Rummele P, Friedrichs N, Mangold E, Buettner R, Schackert HK, Kienle P, Stemmler S, Moeslein G, Loeffler M; German HNPCC Consortium. Novel strategy for optimal sequential application of clinical criteria, immunohistochemistry and microsatellite analysis in the diagnosis of hereditary nonpolyposis colorectal cancer. Int J Cancer. 2006 Jan 1;118(1):115-22

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, Kruger S, Gebert J, Schmiegel W, Rueschoff J, Loeffler M, Moeslein G; German HNPCC Consortium. Genotype-phenotype comparison of German MLH1 and MSH2 mutation carriers clinically affected with Lynch syndrome: a report by the German HNPCC Consortium. J Clin Oncol. 2006 Sep 10;24(26):4285-92. Epub 2006
Aug 14.

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, Kruger S, Gebert J, Schmiegel W, Rueschoff J, Loeffler M, Moeslein G; German HNPCC Consortium. Genotype-phenotype comparison of German MLH1 and MSH2 mutation carriers clinically affected with Lynch syndrome: a report by the German HNPCC Consortium. J Clin Oncol. 2006 Sep 10;24(26):4285-92. Epub 2006 Aug 14.

Lamberti C, Mangold E, Pagenstecher C, Jungck M, Schwering D, Bollmann M, Vogel J, Kindermann D, Nikorowitsch R, Friedrichs N, Schneider B, Houshdaran F, Schmidt-Wolf IG, Friedl W, Propping P, Sauerbruch T, Buttner R, Mathiak M. Frequency of Hereditary Non-Polyposis Colorectal Cancer among Unselected Patients with Colorectal Cancer in Germany. Digestion. 2006;74(1):58-67. Epub 2006 Mar 3. PMID: 17095871 [PubMed – in process

Ollila S, Sarantaus L, Kariola R, Chan P, Hampel H, Holinski-Feder E, Macrae F, Kohonen-Corish M, Gerdes AM, Peltomaki P, Mangold E, de la Chapelle A, Greenblatt M, Nystrom M. Pathogenicity of MSH2 missense mutations is typically associated with impaired repair capability of the mutated protein. Gastroenterology. 2006 Nov;131(5):1408-17. Epub 2006 Aug 22. PMID: 17101317 [PubMed – in process]

Ollila S, Fitzpatrick R, Sarantaus L, Kariola R, Ambus I, Velsher L, Hsieh E, Andersen MK, Raevaara TE, Gerdes AM, Mangold E, Peltomaki P, Lynch HT, Nystrom M. The importance of functional testing in the genetic assessment of Muir-Torre syndrome, a clinical subphenotype of HNPCC. Int J Oncol. 2006 Jan;28(1):149-53.

Pagenstecher C, Wehner M, Friedl W, Rahner N, Aretz S, Friedrichs N, Sengteller M, Henn W, Buettner R, Propping P, Mangold E. Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants. Hum Genet. 2006 Mar;119(1-2):9-22. Epub 2005 Dec 8.

Sieber O, Segditsas S, Knudsen A, Zhang J, Luz J, Rowan A, Spain S, Thirlwell C, Howarth K, Jaeger E, Robinson J, Volikos E, Silver A, Kelly G, Aretz S, Frayling I, Hutter P, Dunlop M, Guenther T, Neale K, Phillips R, Heinimann K, Tomlinson I. Disease severity and genetic pathways in attenuated familial adenomatous polyposis vary greatly, but depend on the site of the germline mutation. Gut. 2006 Feb 4; [Epub ahead of print]

2005

Aretz S, Koch A, Uhlhaas S, Friedl W, Propping P, Schweinitz DV, Pietsch T. Should children at risk for familial adenomatous polyposis be screened for hepatoblastoma and children with apparently sporadic hepatoblastoma be screened for APC germline mutations? Pediatr Blood Cancer. 2005 Nov 29; [Epub ahead of print]

Aretz S, Stienen D, Mangold E, Pagenstecher C, Uhlhaas S, Caspari R, Propping P and Friedl W (2005) Frequency and Phenotype of Large Submicroscopic Genomic APC Deletions in patients with Familial Adenomatous Polyposis. J Med Genet 42:185-192.

Aretz S, Stienen D, Uhlhaas S, Loff S, Back W, Pagenstecher C, McLeod DR, Graham GE, Mangold E, Santer R, Propping P, Friedl W. High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome. Hum Mutat. 2005 Dec;26(6):513-9.

Kruger S, Silber AS, Engel C, Gorgens H, Mangold E, Pagenstecher C, Holinski-Feder E, von Knebel Doeberitz M, Moeslein G, Dietmaier W, Stemmler S, Friedl W, Ruschoff J, Schackert HK; German Hereditary Non-Polyposis Colorectal Cancer Consortium. Arg462Gln sequence variation in the prostate-cancer-susceptibility gene RNASEL and age of onset of hereditary non-polyposis colorectal cancer: a case-control study. Lancet Oncol. 2005 Aug;6(8):566-72.

Mangold E, Pagenstecher C, Friedl W, Fischer HP, Merkelbach-Bruse S, Ohlendorf M, Friedrichs N, Aretz S, Buettner R, Propping P, Mathiak M. Tumours from MSH2 mutation carriers show loss of MSH2 expression but many tumours from MLH1 mutation carriers exhibit weak positive MLH1 staining. J Pathol. 2005 Dec;207(4):385-95.

Mangold E, Pagenstecher C, Friedl W, Mathiak M, Buettner R, Engel C, Loeffler M, Holinski-Feder E, Muller-Koch Y, Keller G, Schackert HK, Kruger S, Goecke T, Moeslein G, Kloor M, Gebert J, Kunstmann E, Schulmann K, Ruschoff J, Propping P. Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer. Int J Cancer. 2005 Sep 20;116(5):692-702.

Schulmann K, Brasch FE, Kunstmann E, Engel C, Pagenstecher C, Vogelsang H, Kruger S, Vogel T, Knaebel HP, Ruschoff J, Hahn SA, Knebel-Doeberitz MV, Moeslein G, Meltzer SJ, Schackert HK, Tympner C, Mangold E, Schmiegel W; The German HNPCC Consortium. HNPCC-associated small bowel cancer: clinical and molecular characteristics. Gastroenterology. 2005 Mar;128(3):590-9

Wehner M, Mangold E, Sengteller M, Friedrichs N, Aretz S, Friedl W, Propping P, Pagenstecher C (2005) Hereditary nonpolyposis colorectal cancer: pitfalls in deletion screening in MSH2 and MLH1 genes. Eur J Hum Genet. Eur J Hum Genet. 2005 Aug;13(8):983-6

2004

Aretz S, Uhlhaas S, Caspari R, Mangold E, Pagenstecher C, Propping P, Friedl W (2004a) Frequency and parental origin of de novo APC mutations in familial adenomatous polyposis. Eur J Hum Genet. 12:52-8

Aretz S, Uhlhaas S, Sun Y, Pagenstecher C, Mangold E, Caspari R, Möslein G, Schulmann K, Propping P, Friedl W (2004c) Familial adenomatous polyposis: Aberrant splicing due to missense or silent mutations in the APC gene. Hum Mutat. 2004 Nov;24(5):370-80.
Friedl W und Propping P (2004) Disposition für erbliche Tumorerkrankungen. In: Die Onkologie. Hrsg.: Hiddemann, Huber und Bartram, Springer-Verlag, S. 147-173.

Jungck M, Grunhage F, Spengler U, Dernac A, Mathiak M, Caspari R, Friedl W, Sauerbruch T (2004). E-cadherin expression is homogeneously reduced in adenoma from patients with familial adenomatous polyposis: an immunohistochemical study of E-cadherin, beta-catenin and cyclooxygenase-2 expression. Int J Colorectal Dis. 2004 Sep;19(5):438-45.

Mangold E, Pagenstecher C, Leister M, Mathiak M, Rütten A, Friedl W, Propping P, Ruzicka T, Kruse R (2004) A Genotype-Phenotype Correlation in HNPCC: Strong Predominance of MSH2 Mutations in 41 Patients with Muir-Torre Syndrome. J Med Genet. 41: 567-572

Muller A, Giuffre G, Edmonston TB, Mathiak M, Roggendorf B, Heinmoller E, Brodegger T, Tuccari G, Mangold E, Buettner R, Ruschoff J; German HNPCC Consortium German Cancer Aid (Deutsche Krebshilfe). (2004) Challenges and pitfalls in HNPCC screening by microsatellite analysis and immunohistochemistry. J Mol Diagn. 2004 Nov;6(4):308-15

Plaschke J, Engel C, Kruger S, Holinski-Feder E, Pagenstecher C, Mangold E, Moeslein G, Schulmann K, Gebert J, von Knebel Doeberitz M, Ruschoff J, Loeffler M, Schackert HK. Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German Hereditary Nonpolyposis Colorectal Cancer Consortium. Clin Oncol. 2004 Nov 15;22(22):4486-94. Epub 2004 Oct 13

2003

Wang Y, Friedl W, Lamberti C, Jungck M, Mathiak M, Pagenstecher C, Propping P, Mangold E (2003) Hereditary nonpolyposis colorectal cancer: frequent occurrence of large genomic deletions in MSH2 and MLH1 genes. Int J Cancer. 103:636-641

2002

Burger B, Uhlhaas S, Mangold E, Propping P, Friedl W, Jenne D, Dockter G, Back W (2002) Novel de novo mutation of MADH4/SMAD4 in a patient with juvenile polyposis. Am J Med Genet. 110(3):289-291.

Duijf PH, Vanmolkot KR, Propping P, Friedl W, Krieger E, McKeon F, Dotsch V, Brunner HG, van Bokhoven H. (2002) Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63. Hum Mol Genet. 11(7):799-804.

Friedl W, Uhlhaas S, Schulmann K, Stolte M, Loff S, Back W, Mangold E, Stern M, Knaebel HP, Sutter C, Weber RG, Pistorius S, Burger B, Propping P (2002) Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers. Hum Genet. 111(1):108-111.

Lamberti C, Jungck M, Laarmann M, Knapp M, Caspari R, Friedl W, Sauerbruch T, Propping P, Kruse R (2002) Arylamine N-acetyltransferase type 2 and glutathione S-transferases M1 and T1 polymorphisms in familial adenomatous polyposis. Pharmacogenetics 12:49-54

Mangold E (2002) Hereditäre kolorektale Polyposen. Internistische Praxis 42: 27-35

Mangold E, Friedl W (2002) Hereditäre kolorektale Polyposen. Internistische Praxis 42:27-35

Mangold E, Pagenstecher P (2002) Krankheiten mit erblicher Tumordisposition. Dtsch Ärztebl 99:A56-59

Mathiak M, Rutten A, Mangold E, Fischer HP, Ruzicka T, Friedl W, Propping P, Kruse R (2002) Loss of DNA mismatch repair proteins in skin tumors from patients with Muir-Torre syndrome and MSH2 or MLH1 germline mutations: establishment of immunohistochemical analysis as a screening test. Am J Surg Pathol.26(3):338-343.

Raevaara TE, Timoharju T, Lonnqvist KE, Kariola R, Steinhoff M, Hofstra RM, Mangold E, Vos YJ, Nystrom-Lahti M (2002) Description and functional analysis of a novel in frame mutation linked to hereditary non-polyposis colorectal cancer. J Med Genet. 39(10):747-750.

Wang Y, Friedl W, Sengteller M, Jungck M, Filges I, Propping P, Mangold E (2002) A modified multiplex PCR assay for detection of large deletions in MSH2 and MLH1 genes. Hum Mutat 19:279-286

2001

Friedl W und Lamberti C (2001) Familiäre adenomatöse Polyposis. Buchbeitrag in: Hereditäre Tumorerkrankungen. D. Ganten / K. Ruckpaul (Hrsg.), Springerverlag Berlin Heidelberg, S. 305-329

Friedl W, Caspari R, Sengteller M, Uhlhaas S, Lamberti C, Jungck M, Kadmon M, Wolf M, Fahnenstich J, Gebert J, Möslein G, Mangold E, Propping P (2001) Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families. Gut 48:515-521.

Friedl W, Mangold E, Caspari R, Lamberti C, Propping P (2001) Ileorectal anastomosis is appropriate for a subset of patients with familial adenomatous polyposis. Gastroenterology 121: 503-504

Holinski-Feder E, Muller-Koch Y, Friedl W, Moeslein G, Keller G, Plaschke J, Ballhausen W, Gross M, Baldwin-Jedele K, Jungck M, Mangold E, Vogelsang H, Schackert H, Lohsea P, Murken J, Meitinger T (2001) DHPLC mutation analysis of the hereditary nonpolyposis colon cancer (HNPCC) genes hMLH1 and hMSH2. J Biochem Biophys Methods 47(1-2): 21-32

Kruse R, Rütten A, Hosseiny-Malayeri HR, Bisceglia M, Friedl W, Propping P, Ruzicka T, Mangold E. (2001) Second Hit“ in Sebaceous Tumors from Muir-Torre Patients with Germline Mutations in MSH2: Allele Loss is Not the Preferred Mode of Inactivation. J Invest Dermatol 116(3): 463-465

Lauschke H, Caspari R, Friedl W, Schwarz B, Mathiak M, Propping P, Hirner A (2001) Detection of APC and k-ras mutations in the serum of patients with colorectal cancer. Cancer Detection and Prevention 25:55-61

Raedle J, Friedl W, Engels H, Koenig R, Trojan J, Zeuzem S (2001) A de novo deletion of chromosome 5q causing familial adenomatous polyposis, dysmorphic features, and mild mental retardation. Am J Gastroenterol 96:3016-3020

2000

Mangold E, Friedl W, Propping P (2000) Erbliches kolorektales Karzinom: Was kann die molekulargenetische Diagnostik leisten? Der Onkologe 6: 465-472

1999

Friedl W, Kruse R, Jungck M, Back W, Loff S, Propping P, Jenne DE (1999) Hamartomatöse Polyposis-Syndrome. Dtsch Ärztebl 96: A-2285-2291.

Friedl W, Kruse R, Uhlhaas S, Stolte M, Schartmann B, Keller KM, Jungck M, Stern M, Loff S, Back W, Propping P, Jenne DE (1999) Frequent 4-bp deletion in exon 9 of the SMAD4/MADH4 gene in familial juvenile polyposis patients. Genes, Chromosomes & Cancer 25: 403-406

Jungck M, Friedl W, Propping P (1999) Die genetischen Grundlagen erblicher Tumorkrankheiten des Menschen. Der Onkologe 5: 855-866

Jungck M, Friedl W, Propping P (1999) Erblich bedingte gastrointestinale Tumorerkrankungen. Internist 40: 502-512

Kruse R, Rütten A, Hosseiny Malayeri HR, Günzl HJ, Friedl W, Propping P (1999) A novel germline mutation in the hMLH1 DNA mismatch repair gene in a patient with an isolated cystic sebaceous tumor. J Invest Dermatol 112: 117-118

Kruse R, Uhlhaas S, Lamberti C, Keller KM, Jackisch C, Steinhard J, Knöpfle G, Loff S, Back W, Stolte M, Jungck M, Propping P, Friedl W, Jenne DE (1999) Peutz-Jeghers syndrome: four novel inactivating germline mutations in the STK11 gene. Hum Mutat 13: 257-258.

Lamberti C, Kruse R, Ruelfs C, Caspari R, Wang Y, Jungck M, Mathiak M, Malayeri HR, Friedl W, Sauerbruch T, Propping P (1999) Microsatellite instability-a useful diagnostic tool to select patients at high risk for hereditary non-polyposis colorectal cancer: a study in different groups of patients with colorectal cancer. Gut 44:839-43

Rütten A, Burgdorf W, Hügel H, Kutzner H, Hosseiny-Malayeri HR, Friedl W, Propping P, Kruse R (1999) Cystic sebaceous tumors as marker lesions for the Muir-Torre syndrome – A histopathologic and molecular genetic study. Am J Dermatopathol 21: 405-413

1998

Jenne DE, Reimann H, Nezu J, Friedl W, Loff S, Jeschke R, Müller O, Back W, Zimmer M (1998) Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase. Nat Genet 18: 38-43

Kruse R, Rütten A, Lamberti C, Hosseiny-Malayeri HR, Wang Y, Ruelfs C, Jungck M, Mathiak M, Ruzicka T, Hartschuh W, Bisceglia M, Friedl W, Propping P (1998) Muir-Torre phenotype has a frequency of DNA mismatch-repair-gene mutations similar to that in hereditary nonpolyposis colorectal cancer families defined by the Amsterdam Criteria. Am J Hum Genet 63: 63-70

Müller O, Nimmrich I, Finke U, Friedl W, Hoffmann I: A ß-catenin mutation in a sporadic colorectal tumor of the RER phenotype and absence of ß-catenin germline mutations in FAP patients. Genes Chromosomes Cancer 22:37-41, 1998

Wang Y, Friedl W, Lamberti C, Nöthen MM, Kruse R, Propping P (1998) A novel missense mutation in the DNA mismatch repair gene hMLH1 present among East Asians but not among Europeans. Hum Hered 48: 87-91.