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Stand:01.12.2018


A) Publikationen des Konsortiums


A-1. 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 HK, Lohsea P, Murken J, Meitinger T. DHPLC mutation analysis of the hereditary nonpolyposis colon cancer (HNPCC) genes hMLH1 and hMSH2.
J Biochem Biophys Methods. 2001 Jan 30;47(1-2):21-32. [PMID: 11179758]

A-2. 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.
J Clin Oncol. 2004 Nov 15;22(22):4486-94. Epub 2004 Oct 13. [PMID: 15483016]

A-3. Plaschke J, Kruger S, Dietmaier W, Gebert J, Sutter C, Mangold E, Pagenstecher C, Holinski-Feder E, Schulmann K, Moslein G, Ruschoff J, Engel C, Evans G, Schackert HK. Eight novel MSH6 germline mutations in patients with familial and nonfamilial colorectal cancer selected by loss of protein expression in tumor tissue.
Hum Mutat. 2004 Mar;23(3):285. [PMID: 14974087]

A-4. Ruschoff J, Roggendorf B, Brasch F, Mathiak M, Aust DE, Plaschke J, Mueller W, Poremba C, Kloor M, Keller G, Muders M, Blasenbreu-Vogt S, Rummele P, Muller A, Buttner R. [Molecular pathology in hereditary colorectal cancer. Recommendations of the Collaborative German Study Group on hereditary colorectal cancer funded by the German Cancer Aid (Deutsche Krebshilfe)].
Pathologe. 2004 May;25(3):178-92. [PMID: 15138699]

A-5. Umar A, Boland CR, Terdiman JP, Syngal S, de la Chapelle A, Ruschoff J, Fishel R, Lindor NM, Burgart LJ, Hamelin R, Hamilton SR, Hiatt RA, Jass J, Lindblom A, Lynch HT, Peltomaki P, Ramsey SD, Rodriguez-Bigas MA, Vasen HF, Hawk ET, Barrett JC, Freedman AN, Srivastava S. Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability.
J Natl Cancer Inst. 2004 Feb 18;96(4):261-8. [PMID: 14970275]

A-6. Kruger S, Bier A, Engel C, Mangold E, Pagenstecher C, von Knebel Doeberitz M, Holinski-Feder E, Moeslein G, Schulmann K, Plaschke J, Ruschoff J, Schackert HK. The p53 codon 72 variation is associated with the age of onset of hereditary non-polyposis colorectal cancer (HNPCC).
J Med Genet. 2005 Oct;42(10):769-73. [PMID: 16199549]

A-7. 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. 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. [PMID: 16054567]

A-8. 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. [PMID: 15849733]

A-9. Raevaara TE, Korhonen MK, Lohi H, Hampel H, Lynch E, Lonnqvist KE, Holinski-Feder E, Sutter C, McKinnon W, Duraisamy S, Gerdes AM, Peltomaki P, Kohonen-Ccorish M, Mangold E, Macrae F, Greenblatt M, de la Chapelle A, Nystrom M. Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1.
Gastroenterology. 2005 Aug;129(2):537-49. [PMID: 16083711]

A-10. 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. HNPCC-associated small bowel cancer: clinical and molecular characteristics.
Gastroenterology. 2005 Mar;128(3):590-9. [PMID: 15765394]

A-11. Woerner SM, Kloor M, Mueller A, Rueschoff J, Friedrichs N, Buettner R, Buzello M, Kienle P, Knaebel HP, Kunstmann E, Pagenstecher C, Schackert HK, Moslein G, Vogelsang H, von Knebel Doeberitz M, Gebert JF. Microsatellite instability of selective target genes in HNPCC-associated colon adenomas.
Oncogene. 2005 Apr 7;24(15):2525-35. [PMID: 15735733]

A-12. 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. 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. [PMID: 16003745]

A-13. 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. 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. [PMID: 16908935]

A-14. Gorgens H, Kruger S, Kuhlisch E, Pagenstecher C, Hohl R, Schackert HK, Muller 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. [PMID: 16645203]

A-15. Kruger S, Engel C, Bier A, Mangold E, Pagenstecher C, Doeberitz M, 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. [PMID: 16832876]

A-16. 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. 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. Epub 2005 Dec 6. [PMID: 16337339]

A-17. Plaschke J, Linnebacher M, Kloor M, Gebert J, Cremer FW, Tinschert S, Aust DE, von Knebel Doeberitz M, Schackert HK. Compound heterozygosity for two MSH6 mutations in a patient with early onset of HNPCC-associated cancers, but without hematological malignancy and brain tumor.
Eur J Hum Genet. 2006 May;14(5):561-6. [PMID: 16418736]

A-18. Kloor M, Michel S, Buckowitz B, Ruschoff J, Buttner R, Holinski-Feder E, Dippold W, Wagner R, Tariverdian M, Benner A, Schwitalle Y, Kuchenbuch B, von Knebel Doeberitz M. Beta2-microglobulin mutations in microsatellite unstable colorectal tumors.
Int J Cancer. 2007 Jul 15;121(2):454-8. [PMID: 17373663]

A-19. Kruger S, Engel C, Bier A, Silber AS, Gorgens H, Mangold E, Pagenstecher C, Holinski-Feder E, von Knebel Doeberitz M, Royer-Pokora B, Dechant S, Pox C, Rahner N, Muller A, Schackert HK. 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. Epub 2007 Jan 16. [PMID: 17224235]

A-20. Pistorius S, Goergens H, Engel C, Plaschke J, Krueger S, Hoehl R, Saeger HD, Schackert HK. N-Acetyltransferase (NAT) 2 acetylator status and age of tumour onset in patients with sporadic and familial, microsatellite stable (MSS) colorectal cancer.
Int J Colorectal Dis. 2007 Feb;22(2):137-43. Epub 2006 Aug 2. [PMID: 16896994]

A-21. Pistorius S, Gorgens H, Plaschke J, Hoehl R, Kruger S, Engel C, Saeger HD, Schackert HK. Genomic rearrangements in MSH2, MLH1 or MSH6 are rare in HNPCC patients carrying point mutations.
Cancer Lett. 2007 Apr 8;248(1):89-95. Epub 2006 Jul 11. [PMID: 16837128]

A-22. Vasen HF, Moslein G, Alonso A, Bernstein I, Bertario L, Blanco I, Burn J, Capella G, Engel C, Frayling I, Friedl W, Hes FJ, Hodgson S, Mecklin JP, Moller P, Nagengast F, Parc Y, Renkonen-Sinisalo L, Sampson JR, Stormorken A, Wijnen J. Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer).
J Med Genet. 2007 Jun;44(6):353-62. Epub 2007 Feb 27. [PMID: 17327285]

A-23. Burn J, Bishop DT, Mecklin JP, Macrae F, Moslein G, Olschwang S, Bisgaard ML, Ramesar R, Eccles D, Maher ER, Bertario L, Jarvinen HJ, Lindblom A, Evans DG, Lubinski J, Morrison PJ, Ho JW, Vasen HF, Side L, Thomas HJ, Scott RJ, Dunlop M, Barker G, Elliott F, Jass JR, Fodde R, Lynch HT, Mathers JC. Effect of aspirin or resistant starch on colorectal neoplasia in the Lynch syndrome.
N Engl J Med. 2008 Dec 11;359(24):2567-78. doi: 10.1056/NEJMoa0801297. [PMID: 19073976]

A-24. 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. doi: 10.1016/j.canlet.2008.05.043. Epub 2008 Jul 10. [PMID: 18619730]

A-25. 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. Further evidence for heritability of an epimutation in one of 12 cases with MLH1 promoter methylation in blood cells clinically displaying HNPCC.
Eur J Hum Genet. 2008 Jul;16(7):804-11. doi: 10.1038/ejhg.2008.25. Epub 2008 Feb 27. [PMID: 18301449]

A-26. 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. Deciphering the genetics of hereditary non-syndromic colorectal cancer.
Eur J Hum Genet. 2008 Dec;16(12):1477-86. doi: 10.1038/ejhg.2008.129. Epub 2008 Jul 16. [PMID: 18628789]

A-27. Rahner N, Steinke V.
Hereditary cancer syndromes.
Dtsch Arztebl Int. 2008 Oct;105(41):706-14. doi: 10.3238/arztebl.2008.0706. Epub 2008 Oct 10. [PMID: 19623293]

A-28. Schulmann K, Engel C, Propping P, Schmiegel W.
Small bowel cancer risk in Lynch syndrome.
Gut. 2008 Nov;57(11):1629-30. [PMID: 18941010]

A-29. 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. doi: 10.1053/j.gastro.2009.08.052. Epub 2009 Sep 2. [PMID: 19732775]

A-30. Beggs AD, Latchford AR, Vasen HF, Moslein G, Alonso A, Aretz S, Bertario L, Blanco I, Bulow S, Burn J, Capella G, Colas C, Friedl W, Moller P, Hes FJ, Jarvinen H, Mecklin JP, Nagengast FM, Parc Y, Phillips RK, Hyer W, Ponz de Leon M, Renkonen-Sinisalo L, Sampson JR, Stormorken A, Tejpar S, Thomas HJ, Wijnen JT, Clark SK, Hodgson SV. Peutz-Jeghers syndrome: a systematic review and recommendations for management.
Gut. 2010 Jul;59(7):975-86. doi: 10.1136/gut.2009.198499. [PMID: 20581245]

A-31. 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. doi: 10.1186/1471-230X-10-112. [PMID: 20920174]

A-32. 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. doi: 10.1016/j.cgh.2009.10.003. Epub 2009 Oct 14. [PMID: 19835992]

A-33. 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. doi: 10.1093/carcin/bgq146. Epub 2010 Jul 7. [PMID: 20610541]

A-34. Reuschenbach M, Kloor M, Morak M, Wentzensen N, Germann A, Garbe Y, Tariverdian M, Findeisen P, Neumaier M, Holinski-Feder E, von Knebel Doeberitz M. Serum antibodies against frameshift peptides in microsatellite unstable colorectal cancer patients with Lynch syndrome.
Fam Cancer. 2010 Jun;9(2):173-9. doi: 10.1007/s10689-009-9307-z. [PMID: 19957108]

A-35. Vasen HF, Moslein 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, Moller P, Myrhoj T, Nagengast FM, Parc Y, Ponz de Leon M, Renkonen-Sinisalo L, Sampson JR, Stormorken A, Tejpar S, Thomas HJ, Wijnen J, Lubinski J, Jarvinen H, Claes E, Heinimann K, Karagiannis JA, Lindblom A, Dove-Edwin I, Muller H. Recommendations to improve identification of hereditary and familial colorectal cancer in Europe.
Fam Cancer. 2010 Jun;9(2):109-15. doi: 10.1007/s10689-009-9291-3. Epub 2009 Sep 18. [PMID: 19763885]

A-36. Venkatachalam R, Ligtenberg MJ, Hoogerbrugge N, Schackert HK, Gorgens H, Hahn MM, Kamping EJ, Vreede L, Hoenselaar E, van der Looij E, Goossens M, Churchman M, Carvajal-Carmona L, Tomlinson IP, de Bruijn DR, Van Kessel AG, Kuiper RP. Germline epigenetic silencing of the tumor suppressor gene PTPRJ in early-onset familial colorectal cancer.
Gastroenterology. 2010 Dec;139(6):2221-4. doi: 10.1053/j.gastro.2010.08.063. Epub 2010 Oct 29. [PMID: 21036128]

A-37. Burn J, Bishop DT, Chapman PD, Elliott F, Bertario L, Dunlop MG, Eccles D, Ellis A, Evans DG, Fodde R, Maher ER, Moslein G, Vasen HF, Coaker J, Phillips RK, Bulow S, Mathers JC. A randomized placebo-controlled prevention trial of aspirin and/or resistant starch in young people with familial adenomatous polyposis.
Cancer Prev Res (Phila). 2011 May;4(5):655-65. doi: 10.1158/1940-6207.CAPR-11-0106. [PMID: 21543343]

A-38. Burn J, Gerdes AM, Macrae F, Mecklin JP, Moeslein G, Olschwang S, Eccles D, Evans DG, Maher ER, Bertario L, Bisgaard ML, Dunlop MG, Ho JW, Hodgson SV, Lindblom A, Lubinski J, Morrison PJ, Murday V, Ramesar R, Side L, Scott RJ, Thomas HJ, Vasen HF, Barker G, Crawford G, Elliott F, Movahedi M, Pylvanainen K, Wijnen JT, Fodde R, Lynch HT, Mathers JC, Bishop DT. Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial.
Lancet. 2011 Dec 17;378(9809):2081-7. doi: 10.1016/S0140-6736(11)61049-0. Epub 2011 Oct 27. [PMID: 22036019]

A-39. Carrai M, Steinke V, Vodicka P, Pardini B, Rahner N, Holinski-Feder E, Morak M, Schackert HK, Gorgens H, Stemmler S, Betz B, Kloor M, Engel C, Buttner R, Naccarati A, Vodickova L, Novotny J, Stein A, Hemminki K, Propping P, Forsti 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. doi: 10.1371/journal.pone.0020464. Epub 2011 Jun 2. [PMID: 21674048]

A-40. Gullotti L, Czerwitzki J, Kirfel J, Propping P, Rahner N, Steinke V, Kahl P, Engel C, Schule 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. doi: 10.1038/labinvest.2011.109. Epub 2011 Aug 8. [PMID: 21826055]

A-41. Hardt K, Heick SB, Betz B, Goecke T, Yazdanparast H, Kuppers R, Servan K, Steinke V, Rahner N, Morak M, Holinski-Feder E, Engel C, Moslein G, Schackert HK, von Knebel Doeberitz M, Pox C, 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. doi: 10.1007/s10689-011-9431-4. [PMID: 21404117]

A-42. Huhn S, Ingelfinger D, Bermejo JL, Bevier M, Pardini B, Naccarati A, Steinke V, Rahner N, Holinski-Feder E, Morak M, Schackert HK, Gorgens H, Pox CP, Goecke T, Kloor M, Loeffler M, Buttner R, Vodickova L, Novotny J, Demir K, Cruciat CM, Renneberg R, Huber W, Niehrs C, Boutros M, Propping P, Vodieka P, Hemminki K, Forsti A. Polymorphisms in CTNNBL1 in relation to colorectal cancer with evolutionary implications.
Int J Mol Epidemiol Genet. 2011 Jan 1;2(1):36-50. Epub 2010 Nov 25. [PMID: 21537400]

A-43. Kempers MJ, Kuiper RP, Ockeloen CW, Chappuis PO, Hutter P, Rahner N, Schackert HK, Steinke V, Holinski-Feder E, Morak M, Kloor M, Buttner 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, Gomez Garcia EB, Eccles DM, Bunyan DJ, Syngal S, Stoffel EM, Culver JO, Palomares MR, Graham T, Velsher L, Papp J, Olah 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. doi: 10.1016/S1470-2045(10)70265-5. Epub 2010 Dec 8. [PMID: 21145788]

A-44. 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, Moller P, Morreau H, Moslein G, Sijmons R, Spurdle AB, Tavtigian S, Tops CM, Weber TK, de Wind N, Woods MO. Deciphering the colon cancer genes--report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010.
Hum Mutat. 2011 Apr;32(4):491-4. doi: 10.1002/humu.21450. Epub 2011 Mar 8. [PMID: 21387463]

A-45. 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. doi: 10.1002/humu.21446. Epub 2011 Mar 1. [PMID: 21309036]

A-46. Morak M, Koehler U, Schackert HK, Steinke V, Royer-Pokora B, Schulmann K, Kloor M, Hochter W, Weingart J, Keiling C, Massdorf T, Holinski-Feder E. 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. doi: 10.1136/jmedgenet-2011-100050. Epub 2011 Jun 28. [PMID: 21712435]

A-47. 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, Gomez Garcia E, 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. doi: 10.1200/JCO.2012.43.2278. Epub 2012 Oct 22. [PMID: 23091106]

A-48. Kast K, Neuhann TM, Gorgens H, Becker K, Keller K, Klink B, Aust D, Distler W, Schrock E, Schackert HK. Germline truncating-mutations in BRCA1 and MSH6 in a patient with early onset endometrial cancer.
BMC Cancer. 2012 Nov 20;12:531. doi: 10.1186/1471-2407-12-531. [PMID: 23164213]

A-49. Rahner N, Brockschmidt FF, Steinke V, Kahl P, Becker T, Vasen HF, Wijnen JT, Tops CJ, Holinski-Feder E, Ligtenberg MJ, Spruijt L, Gorgens H, Stemmler S, Kloor M, Dietmaier W, Schumacher J, Nothen 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. doi: 10.1007/s10689-011-9489-z. [PMID: 22086303]

A-50. Spier I, Horpaopan S, Vogt S, Uhlhaas S, Morak M, Stienen D, Draaken M, Ludwig M, Holinski-Feder E, Nothen MM, Hoffmann P, Aretz S. Deep intronic APC mutations explain a substantial proportion of patients with familial or early-onset adenomatous polyposis.
Hum Mutat. 2012 Jul;33(7):1045-50. doi: 10.1002/humu.22082. Epub 2012 Apr 16. [PMID: 22431159]

A-51. de Voer RM, Geurts van Kessel A, Weren RD, Ligtenberg MJ, Smeets D, Fu L, Vreede L, Kamping EJ, Verwiel ET, Hahn MM, Ariaans M, Spruijt L, van Essen T, Houge G, Schackert HK, Sheng JQ, Venselaar H, van Ravenswaaij-Arts CM, van Krieken JH, Hoogerbrugge N, Kuiper RP. Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are risk factors for colorectal cancer.
Gastroenterology. 2013 Sep;145(3):544-7. doi: 10.1053/j.gastro.2013.06.001. Epub 2013 Jun 5. [PMID: 23747338]

A-52. Engel C, Vasen HF. Reply to V. Bonadona et al. J Clin Oncol. 2013 Jun 10;31(17):2230. [PMID: 23901422]

A-53. Pox C, Aretz S, Bischoff SC, Graeven U, Hass M, Heussner P, Hohenberger W, Holstege A, Hubner 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. [S3-guideline colorectal cancer version 1.0].
Z Gastroenterol. 2013 Aug;51(8):753-854. doi: 10.1055/s-0033-1350264. Epub 2013 Aug 16. [PMID: 23955142]

A-54. Steinke V, Engel C, Buttner R, Schackert HK, Schmiegel WH, Propping P. Hereditary nonpolyposis colorectal cancer (HNPCC)/Lynch syndrome.
Dtsch Arztebl Int. 2013 Jan;110(3):32-8. doi: 10.3238/arztebl.2013.0032. Epub 2013 Jan 18. [PMID: 23413378]

A-55. Steinke V, Propping P, Engel C, Buttner R, Schackert K, Schmiegel WH. Correspondence (reply): In reply.
Dtsch Arztebl Int. 2013 May;110(20):364. doi: 10.3238/arztebl.2013.0364b. [PMID: 23825490]

A-56. 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, Moller 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, Jarvinen HJ, Moslein 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. doi: 10.1136/gutjnl-2012-304356. Epub 2013 Feb 13. [PMID: 23408351]

A-57. Mesher D, Dove-Edwin I, Sasieni P, Vasen H, Bernstein I, Royer-Pokora B, Holinski-Feder E, Lalloo F, Evans DG, Forsberg A, Lindblom A, Thomas H. A pooled analysis of the outcome of prospective colonoscopic surveillance for familial colorectal cancer.
Int J Cancer. 2014 Feb 15;134(4):939-47. doi: 10.1002/ijc.28397. Epub 2013 Aug 29. [PMID: 23901040]

A-58. Steinke V, Holzapfel S, Loeffler M, Holinski-Feder E, Morak M, Schackert HK, Gorgens H, Pox C, Royer-Pokora B, von Knebel-Doeberitz M, Buttner R, Propping P, Engel C. Evaluating the performance of clinical criteria for predicting mismatch repair gene mutations in Lynch syndrome: a comprehensive analysis of 3,671 families.
Int J Cancer. 2014 Jul 1;135(1):69-77. doi: 10.1002/ijc.28650. Epub 2014 Feb 20. [PMID: 24493211]

A-59. Thompson BA, Spurdle AB, Plazzer JP, Greenblatt MS, Akagi K, Al-Mulla F, Bapat B, Bernstein I, Capella G, den Dunnen JT, du Sart D, Fabre A, Farrell MP, Farrington SM, Frayling IM, Frebourg T, Goldgar DE, Heinen CD, Holinski-Feder E, Kohonen-Corish M, Robinson KL, Leung SY, Martins A, Moller P, Morak M, Nystrom M, Peltomaki P, Pineda M, Qi M, Ramesar R, Rasmussen LJ, Royer-Pokora B, Scott RJ, Sijmons R, Tavtigian SV, Tops CM, Weber T, Wijnen J, Woods MO, Macrae F, Genuardi M. Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.
Nat Genet. 2014 Feb;46(2):107-115. doi: 10.1038/ng.2854. Epub 2013 Dec 22. [PMID: 24362816]

A-60. Yang R, Chen B, Pfutze K, Buch S, Steinke V, Holinski-Feder E, Stocker S, von Schonfels W, Becker T, Schackert HK, Royer-Pokora B, Kloor M, Schmiegel WH, Buttner R, Engel C, Lascorz Puertolas J, Forsti 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 Feb;35(2):315-23. doi: 10.1093/carcin/bgt344. Epub 2013 Oct 14. [PMID: 24127187]

A-61. Horpaopan S, Spier I, Zink AM, Altmuller 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, Nothen MM, Steinke V, Perez-Bouza A, Herms S, Holinski-Feder E, Frohlich 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. Epub 2014 Sep 30. [PMID: 25219767]

A-62. Movahedi M, Bishop DT, Macrae F, Mecklin JP, Moeslein G, Olschwang S, Eccles D, Evans DG, Maher ER, Bertario L, Bisgaard ML, Dunlop MG, Ho JW, Hodgson SV, Lindblom A, Lubinski J, Morrison PJ, Murday V, Ramesar RS, Side L, Scott RJ, Thomas HJ, Vasen HF, Burn J, Mathers JC. Obesity, Aspirin, and Risk of Colorectal Cancer in Carriers of Hereditary Colorectal Cancer: A Prospective Investigation in the CAPP2 Study.
J Clin Oncol. 2015 Nov 1;33(31):3591-7. doi: 10.1200/JCO.2014.58.9952. Epub 2015 Aug 17. [PMID: 26282643]

A-63. Spier I, Holzapfel S, Altmuller J, Zhao B, Horpaopan S, Vogt S, Chen S, Morak M, Raeder S, Kayser K, Stienen D, Adam R, Nurnberg 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 15;137(2):320-31. doi: 10.1002/ijc.29396. Epub 2015 Jan 20. [PMID: 25529843]

A-64. Weren RD, Venkatachalam R, Cazier JB, Farin HF, Kets CM, de Voer RM, Vreede L, Verwiel ET, van Asseldonk M, Kamping EJ, Kiemeney LA, Neveling K, Aben KK, Carvajal-Carmona L, Nagtegaal ID, Schackert HK, Clevers H, van de Wetering M, Tomlinson IP, Ligtenberg MJ, Hoogerbrugge N, Geurts van Kessel A, Kuiper RP. Germline deletions in the tumour suppressor gene FOCAD are associated with polyposis and colorectal cancer development.
J Pathol. 2015 Jun;236(2):155-64. doi: 10.1002/path.4520. Epub 2015 Mar 26. [PMID: 25712196]

A-65. de Voer RM, Hahn MM, Weren RD, Mensenkamp AR, Gilissen C, van Zelst-Stams WA, Spruijt L, Kets CM, Zhang J, Venselaar H, Vreede L, Schubert N, Tychon M, Derks R, Schackert HK, Geurts van Kessel A, Hoogerbrugge N, Ligtenberg MJ, Kuiper RP. Identification of Novel Candidate Genes for Early-Onset Colorectal Cancer Susceptibility.
PLoS Genet. 2016 Feb 22;12(2):e1005880. doi: 10.1371/journal.pgen.1005880. eCollection 2016 Feb. [PMID: 26901136]

A-66. Hahn MM, Vreede L, Bemelmans SA, van der Looij E, van Kessel AG, Schackert HK, Ligtenberg MJ, Hoogerbrugge N, Kuiper RP, de Voer RM. Prevalence of germline mutations in the spindle assembly checkpoint gene BUB1B in individuals with early-onset colorectal cancer.
Genes Chromosomes Cancer. 2016 Nov;55(11):855-63. doi: 10.1002/gcc.22385. Epub 2016 Jul 7. [PMID: 27239782]

A-67. 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. 2016 Aug;65(8):1296-305. doi: 10.1136/gutjnl-2014-309026. Epub 2015 Apr 28. [PMID: 26001389]

A-68. Pistorius S, Klink B, Pablik J, Rump A, Aust D, Garzarolli M, Schrock E, Schackert HK. An unusual case of Cowden syndrome associated with ganglioneuromatous polyposis.
Hered Cancer Clin Pract. 2016 May 10;14:11. doi: 10.1186/s13053-016-0051-8. eCollection 2016. [PMID: 27168869]

A-69. 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, Nothen 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. [PMID: 26613750]

A-70. Spier I, Kerick M, Drichel D, Horpaopan S, Altmuller J, Laner A, Holzapfel S, Peters S, Adam R, Zhao B, Becker T, Lifton RP, Holinski-Feder E, Perner S, Thiele H, Nothen 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. [PMID: 26780541]

A-71. Vogelaar IP, Ligtenberg MJ, van der Post RS, de Voer RM, Kets CM, Jansen TJ, Jacobs L, Schreibelt G, de Vries IJ, Netea MG, Hoogerbrugge N. Recurrent candidiasis and early-onset gastric cancer in a patient with a genetically defined partial MYD88 defect.
Fam Cancer. 2016 Apr;15(2):289-96. doi: 10.1007/s10689-015-9859-z. [PMID: 26700889]

A-72. Binder H, Hopp L, Schweiger MR, Hoffmann S, Juhling F, Kerick M, Timmermann B, Siebert S, Grimm C, Nersisyan L, Arakelyan A, Herberg M, Buske P, Loeffler-Wirth H, Rosolowski M, Engel C, Przybilla J, Peifer M, Friedrichs N, Moeslein G, Odenthal M, Hussong M, Peters S, Holzapfel S, Nattermann J, Hueneburg R, Schmiegel W, Royer-Pokora B, Aretz S, Kloth M, Kloor M, Buettner R, Galle J, Loeffler M. Genomic and transcriptomic heterogeneity of colorectal tumors arising in Lynch Syndrome.
J Pathol. 2017 Jul 20. doi: 10.1002/path.4948. [PMID: 28727142]

A-73. Moller P, Seppala T, Bernstein I, Holinski-Feder E, Sala P, Evans DG, Lindblom A, Macrae F, Blanco I, Sijmons R, Jeffries J, Vasen H, Burn J, Nakken S, Hovig E, Rodland EA, Tharmaratnam K, de Vos Tot Nederveen Cappel WH, Hill J, Wijnen J, Green K, Lalloo F, Sunde L, Mints M, Bertario L, Pineda M, Navarro M, Morak M, Renkonen-Sinisalo L, Frayling IM, Plazzer JP, Pylvanainen K, Sampson JR, Capella G, Mecklin JP, Moslein G. Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database.
Gut. 2017 Mar;66(3):464-472. doi: 10.1136/gutjnl-2015-309675. Epub 2015 Dec 9. [PMID: 26657901]

A-74. Moller P, Seppala T, Bernstein I, Holinski-Feder E, Sala P, Evans DG, Lindblom A, Macrae F, Blanco I, Sijmons R, Jeffries J, Vasen H, Burn J, Nakken S, Hovig E, Rodland EA, Tharmaratnam K, de Vos Tot Nederveen Cappel WH, Hill J, Wijnen J, Jenkins M, Green K, Lalloo F, Sunde L, Mints M, Bertario L, Pineda M, Navarro M, Morak M, Renkonen-Sinisalo L, Frayling IM, Plazzer JP, Pylvanainen K, Genuardi M, Mecklin JP, Moslein G, Sampson JR, Capella G. Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome database.
Gut. 2017 Sep;66(9):1657-1664. doi: 10.1136/gutjnl-2016-311403. Epub 2016 Jun 3. [PMID: 27261338]

A-75. Moller P, Seppala TT, Bernstein I, Holinski-Feder E, Sala P, Gareth Evans D, Lindblom A, Macrae F, Blanco I, Sijmons RH, Jeffries J, Vasen HFA, Burn J, Nakken S, Hovig E, Rodland EA, Tharmaratnam K, de Vos Tot Nederveen Cappel WH, Hill J, Wijnen JT, Jenkins MA, Green K, Lalloo F, Sunde L, Mints M, Bertario L, Pineda M, Navarro M, Morak M, Renkonen-Sinisalo L, Valentin MD, Frayling IM, Plazzer JP, Pylvanainen K, Genuardi M, Mecklin JP, Moeslein G, Sampson JR, Capella G. Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database.
Gut. 2017 Jul 28. doi: 10.1136/gutjnl-2017-314057. [PMID: 28754778]

A-76. Morak M, Kasbauer S, Kerscher M, Laner A, Nissen AM, Benet-Pages A, Schackert HK, Keller G, Massdorf T, Holinski-Feder E. Loss of MSH2 and MSH6 due to heterozygous germline defects in MSH3 and MSH6.
Fam Cancer. 2017 May 20. doi: 10.1007/s10689-017-9975-z. [PMID: 28528517]

A-77. Engel C, Vasen HF, Seppala T, Aretz S, Bigirwamungu-Bargeman M, de Boer SY, Bucksch K, Buttner R, Holinski-Feder E, Holzapfel S, Huneburg R, Jacobs M, Jarvinen H, Kloor M, von Knebel Doeberitz M, Koornstra JJ, van Kouwen M, Langers AM, van de Meeberg PC, Morak M, Moslein G, Nagengast FM, Pylvanainen 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. No Difference in Colorectal Cancer Incidence or Stage at Detection by Colonoscopy Among 3 Countries With Different Lynch Syndrome Surveillance Policies.
Gastroenterology. 2018 Nov;155(5):1400-1409.e2. doi: 10.1053/j.gastro.2018.07.030. Epub 2018 Jul 29. [PMID: 30063918]


B) Weitere eigene Publikationen der Konsortialpartner:


B-1. Cederquist K, Emanuelsson M, Goransson I, Holinski-Feder E, Muller-Koch Y, Golovleva I, Gronberg H. Mutation analysis of the MLH1, MSH2 and MSH6 genes in patients with double primary cancers of the colorectum and the endometrium: a population-based study in northern Sweden.
Int J Cancer. 2004 Apr 10;109(3):370-6. [PMID: 14961575]

B-2. Dellas A, Puhl A, Schraml P, Thomke SE, Ruschoff J, Mihatsch MJ, Moch H. Molecular and clinicopathological analysis of ovarian carcinomas with and without microsatellite instability.
Anticancer Res. 2004 Jan-Feb;24(1):361-9. [PMID: 15015622]

B-3. Jungck M, Grunhage F, Spengler U, Dernac A, Mathiak M, Caspari R, Friedl W, Sauerbruch T. 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. Epub 2004 Feb 21. [PMID: 14986031]

B-4. Keller G, Vogelsang H, Becker I, Plaschke S, Ott K, Suriano G, Mateus AR, Seruca R, Biedermann K, Huntsman D, Doring C, Holinski-Feder E, Neutzling A, Siewert JR, Hofler H. Germline mutations of the E-cadherin(CDH1) and TP53 genes, rather than of RUNX3 and HPP1, contribute to genetic predisposition in German gastric cancer patients.
J Med Genet. 2004 Jun;41(6):e89. [PMID: 15173255]

B-5. Keller M, Jost R, Kadmon M, Wullenweber HP, Haunstetter CM, Willeke F, Jung C, Gebert J, Sutter C, Herfarth C, Buchler MW. Acceptance of and attitude toward genetic testing for hereditary nonpolyposis colorectal cancer: a comparison of participants and nonparticipants in genetic counseling.
Dis Colon Rectum. 2004 Feb;47(2):153-62. [PMID: 15043284]

B-6. Kloor M, Sutter C, Wentzensen N, Cremer FW, Buckowitz A, Keller M, von Knebel Doeberitz M, Gebert J. A large MSH2 Alu insertion mutation causes HNPCC in a German kindred.
Hum Genet. 2004 Oct;115(5):432-8. Epub 2004 Aug 31. [PMID: 15340835]

B-7. Koehler A, Bataille F, Schmid C, Ruemmele P, Waldeck A, Blaszyk H, Hartmann A, Hofstaedter F, Dietmaier W. Gene expression profiling of colorectal cancer and metastases divides tumours according to their clinicopathological stage.
J Pathol. 2004 Sep;204(1):65-74. [PMID: 15307139]

B-8. Kruger S, Bier A, Plaschke J, Hohl R, Aust DE, Kreuz FR, Pistorius SR, Saeger HD, Rothhammer V, Al-Taie O, Schackert HK. Ten novel MSH2 and MLH1 germline mutations in families with HNPCC.
Hum Mutat. 2004 Oct;24(4):351-2. [PMID: 15365996]

B-9. Kunstmann E, Rusche H. [Hereditary intestinal cancer. Linking a specialized center with general medical practice].
Dtsch Med Wochenschr. 2004 Jan 2;129(1-2):23-4. [PMID: 14703577]

B-10. Kunstmann E, Vieland J, Brasch FE, Hahn SA, Epplen JT, Schulmann K, Schmiegel W. HNPCC: six new pathogenic mutations.
BMC Med Genet. 2004 Jun 24;5:16. [PMID: 15217520]

B-11. Mangold E, Pagenstecher C, Leister M, Mathiak M, Rutten A, Friedl W, Propping P, Ruzicka T, Kruse R. A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome.
J Med Genet. 2004 Jul;41(7):567-72. [PMID: 15235030]

B-12. Muller A, Edmonston TB, Dietmaier W, Buttner R, Fishel R, Ruschoff J. MSI-testing in hereditary non-polyposis colorectal carcinoma (HNPCC).
Dis Markers. 2004;20(4-5):225-36. [PMID: 15528788]



 
     
   
     

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