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*fontos, érdekes közlemény
1. Neklason DW, Stevens J, Boucher KM és mtsai.: American Founder Mutation for Attenuated Familial
Adenomatous Polyposis. Clin Gastroenterol Hepatol 2008;6:46-52.
2. Clendenning M, Baze ME, Sun S és mtsai.: Origins and Prevalence of the American Founder Mutation
of MSH2. Cancer Res 2008;68:2145-53.
3. Hes FJ, Nielsen M, Bik EC, és mtsai.: APC Somatic mosaicism: an underestimated cause of polyposis
coli. Gut 2008;57:71-6.
4.* Dallosso AR, Dolwani S, Jones N és mtsai.: Inherited predisposition to colorectal adenomas caused by
multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or NEIL 1, 2 or 3. Gut 2008;57:1252-5.
5.* Azzopardi D, Dallosso AR, Eliason K és mtsai.: Multiple Rare Nonsynonymous Variants in the
Adenomatous Polyposis Coli Gene Predispose to Colorectal Adenomas. Cancer Res 2008;68:358-63.
6.* Schofield L, Watson N, Grieu F és mtsai.: Population-based detection of Lynch syndrome in young
colorectal cancer patients using microsatellite instability as the initial test. Int J Cancer 2009;124:1097-102.
7. Ramsoekh D, Wagner A, van Leerdam ME és mtsai.: A high incidence of MSH6 mutations in Amsterdam
criteria II-negative families tested in a diagnostic setting. Gut 2008;57:1539-44.
8. Senter L, Clendenning M, Sotamaa K és mtsai.: The Clinical Phenotype of Lynch Syndrome Due to
Germ-Line PMS2 Mutations. Gastroenterology 2008;135:419-28.
9. Nilbert M, Timshel S, Bernstein I és mtsai.: Role for Genetic Anticipation in Lynch Syndrome. J Clin
Oncol 2008;27:360-4
10. HadleyDW, Jenkins JF, Steinberg SM és mtsai.: Perceptions of Cancer Risks and Predictors of Colon
and Endometrial Cancer Screening in Women Undergoing Genetic Testing for Lynch Syndrome. J Clin
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11. van Hattem WA, Brosens LAA, de Leng WWJ és mtsai.: Large genomic deletions of SMAD4, BMPR1A
and PTEN in juvenile polyposis.Gut 2008;57:623-7.
12.* Tenesa A, Farrington SM, Prendergast JGD és mtsai.: Genome-wide association scan identifies a
colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21.Nat Genet
13.* Tomlinson IPM, Webb E, Carvajal-Carmona1 L és mtsai.: A genome-wide association study identifies
colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3. Nat Genet 2008;40:623-30.
14.* Cogent study.: Meta-analysis of genome-wide association data identifies four new susceptibility loci for
colorectal cancer. Nat Genet 2008;40:1426-35.
15. Yoshida S, Ikehara N, Aoyama N és mtsai.: Relationship of BRAF mutation, morphology,and apoptosis
in early colorectal cancer. Int J Colorectal Dis 2008;23:7-13.
16. Kim YH, Kakar S, Cun L és mtsai.: Distinct CpG island methylation profiles and BRAF mutation
status in serrated and adenomatous colorectal polyps. Int J Cancer 2008;123:2587-93.
17. Nagasaka T, Koi M, Kloor M és mtsai.: Mutations in Both KRAS and BRAF May Contribute to the
Methylator Phenotype in Colon Cancer. Gastroenterology 2008;134:1950-60.
18. Carvalho B, Postma S, Mongera S és mtsai.: Multiple putative oncogenes at the chromosome 20q
amplicon contribute to colorectal adenoma to carcinoma progression. Gut 2009;58:79-89.
19. Lim U, Flood A, Choi SW és mtsai.: Genomic Methylation of Leukocyte DNA in Relation to Colorectal
Adenoma Among Asymptomatic Women. Gastroenterology 2008;134:47-55.
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20. Schafmayer C, Buch S, Volzke H és mtsai.: Investigation of the colorectal cancer susceptibility region
on chromosome 8q24.21 in a large German case-control sample. Int J Cancer 2009;124:75-80.
21. Tuupanen S, Niittymaki I, Nousiainen K és mtsai.: Allelic Imbalance at rs6983267 Suggests Selection
of the Risk Allele in Somatic Colorectal Tumor Evolution. Cancer Res 2008;68:14-7.
22. Toyota M, Suzuki H, Sasaki Y és mtsai.: Epigenetic Silencing of MicroRNA-34b/c and B-Cell Translocation
Gene 4 Is Associated with CpG Island Methylation in Colorectal Cancer. Cancer Res 2008;68:4123-32.
23. Hanigan CL, Van Engeland M, De Bruine AP és mtsai.: An Inactivating Mutation in HDAC2 Leads to
Dysregulation of Apoptosis Mediated by APAF1. Gastroenterology 2008;135:1654-64.
24. Ogino S, Kawasaki T, Nosho K és mtsai.: LINE-1 hypomethylation is inversely associated with
microsatellite instability and CpG island methylator phenotype in colorectal cancer. Int J Cancer
25. Ogino S, Nosho K, Kirkner GJ és mtsai.: CpG island methylator phenotype, microsatellite instability,
BRAF mutation and clinical outcome in colon cancer. Gut 2008;58: 90-6.
26. Haugen AC, Goel A, Yamada K és mtsai.: Genetic Instability Caused by Loss of MutS Homologue 3 in
Human Colorectal Cancer. Cancer Res 2008;68:8465-72.
27. Koessler T, Oestergaard MZ, Song H és mtsai.: Common variants in mismatch repair genes and risk of
colorectal cancer. Gut 2008;57:1097-1101.
28. Ikeda S, Sasazuki S, Natsukawa S és mtsai.: Screening of 214 Single Nucleotide Polymorphisms in 44
Candidate Cancer Susceptibility Genes: A Case-Control Study on Gastric and Colorectal Cancers in the
Japanese Population. Am J Gastroenterol 2008;103:1476-84.
29.* Kim JC, Kim SY, Roh SA, és mtsai.: Gene expression profiling: Canonical molecular changes and
clinicopathological features in sporadic colorectal cancers. World J Gastroenterol 2008;14: 6662-6672
30*. Watanabe T, Kobunai T, Sakamoto E és mtsai.: Gene Expression Signature for Recurrence in Stage III
Colorectal Cancers. Cancer 2009;115:283-92.
31. Huang MY, Fang WY, Lee SC és mtsai.: ERCC2 2251A>C genetic polymorphism was highly correlated
with early relapse in high-risk stage II and stage III colorectal cancer patients: A preliminary study.
BMC Cancer 2008;8:50.
32. Bacsi K Hitre E, Kosa JP és mtsai.: Effects of the lactase 13910 C/T and calcium-sensor receptor
A986S G/T gene polymorphisms on the incidence and recurrence of colorectal cancer in Hungarian
population. BMC Cancer 2008;8:317.
33. Wasswemann S, Scheek SK, Hiendlmeyer E és mtsai.: P16INK4a Is a b-Catenin Target Gene and
Indicates Low Survival in Human Colorectal Tumors. Gastroenterology 2009;136:196-205.
34. Wong HL, Koh WP, Probst-Hensch NM és mtsai.: Insulin-like growth factor-1 promoter polymorphisms
and colorectal cancer: a functional genomics approach. Gut 2008;57:1090-6.
35.* Diehl F, Schmidt K, Durkee KH és mtsai.: Analysis of Mutations in DNA Isolated From Plasma and
Stool of Colorectal Cancer Patients. Gastroenterology 2008;134:489-98.
36. Itzkowitz S, Brand R, Jandorf L és mtsai.: A Simplified, Noninvasive Stool DNA Test for Colorectal
Cancer Detection. Am J Gastroenterol 2008;103:2862-70.
37. Lievre A, Bachet JB, Boige V, és mtsai.: KRAS Mutations As an Independent Prognostic Factor in
Patients With Advanced Colorectal Cancer Treated With Cetuximab. J Clin Oncol 2008;26:374-9.
38*. Amado RG, Wolf M, Peeters M és mtsai.: Wild-Type KRAS Is Required for Panitumumab Efficacy in
Patients With Metastatic Colorectal Cancer. J Clin Oncol 2008;26:1626-34.
39. Di Nicolantonio F, Martini M, Molinari F és mtsai.: Wild-Type BRAF Is Required for Response to
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Panitumumab or Cetuximab in Metastatic Colorectal Cancer. J Clin Oncol 2008;26:5705-12.
40. Liu CY, Chen PM, Chiou TJ és mtsai.: UGT1A1*28 Polymorphism Predicts Irinotecan-induced Severe
Toxicities Without Affecting Treatment Outcome and Survival in Patients With Metastatic Colorectal
Carcinoma. Cancer 112:1932-4.
41. Pezo RC, Gandhi SJ, Shirley LA és mtsai.: Single-Cell Transcription Site Activation Predicts
Chemotherapy Response in Human Colorectal Tumors. Cancer Res 2008;68:4977-82.
42. Rimkus S, Frierichs J, Boulesteix AL és mtsai.: Microarray-Based Prediction of Tumor Response to
Neoadjuvant Radiochemotherapy of Patients With Locally Advanced Rectal Cancer. Clin Gastroenterol
Hepatol 2008;6:53-61.
43*. Achkar JP, Duerr R.: The expanding universe of inflammatory bowel disease genetics. Current Opin
Gastroenterol 2008;24:429-34.
44.* Fisher SA, Tremelling M, Anderson CA és mtsai.: Genetic determinants of ulcerative colitis include the
ECM1 locus and five loci implicated in Crohn’s disease Nat Genet 2008;40:710-2.
45.* Franke A. Balschun T, Karlsen TH és mtsai.: Sequence variants in IL10, ARPC2 and multiple other loci
contribute to ulcerative colitis susceptibility Nat Genet 2008;40: 1319-23.
46. Franke A, Balschum T, Karlsen TH és mtsai.: Replication of signals from recent studies of Crohn’s
disease identifies previously unknown disease loci for ulcerative colitis. Nat Genet 2008;40:713-5.
47. Tedde A, Putignano AL, Bagnoli S és mtsai.: Interleukin-10 promoter polymorphisms influence susceptibility
to ulcerative colitis in a gender-specific manner. Scand J Gastroenterol 2008;43:712-8.
48. Grundtner P, Gruber S, Murray SS, és mtsai.: The IL-10R1 S138G loss-of-function allele and ulcerative
colitis. Genes Immun 2009;10:84-92.
49.* Barrett JC, Hansoul S, Nicolae DL és mtsai.: Genome-wide association defines more than 30 distinct
susceptibility loci for Crohn’s disease. Nat Genet 2008;40:955-62.
50. Franke A, Fischer A, Nothnagel M és mtsai.: Genome-Wide Association Analysis in Sarcoidosis and
Crohn’s Disease Unravels a Common Susceptibility Locus on 10p12.2. Gastroenterology 2008;135:1207-15.
51. Villani AC, Lemire M, Fotin G és mtsai.: Common variants in the NLRP3 region contribute to Crohn’s
disease susceptibility. Nat Genet 2009;41:71-6.
52. Glas J, Konrad A, Schmechel S, és mtsai.: The ATG16L1 Gene Variants rs2241879 and rs2241880
(T300A) Are Strongly Associated With Susceptibility to Crohn’s Disease in the German Population.
Am J Gastroenterol 2008;103:682-91.
53. BL Browning, ML Barclay, SA Bingham, és mtsai.: Gender-stratified analysis of DLG5 R30Q in 4707
Crohn’s disease patients and 4973 controls from 12 Caucasian cohorts. J Med Genet 2008;45:36-42.
54. Buning C, Schmidt HHJ, Molnar T és mtsai.: No association of the CARD8 (TUCAN) c.30T>A
(p.C10X) variant with Crohn’s disease: A study in 3 independent European cohorts. Inflamm Bowel Dis
55. Li M, Gao X, Guo CC, Wu KC, Zhang X, Hu PJ.: OCTN and CARD15 gene polymorphism in Chinese
patients with inflammatory bowel disease. World J Gastroenterol 2008;14: 4923-4927.
56. Li K, Wang B, Sui H és mtsai.: Polymorphisms of the macrophage inflammatory protein 1 alpha and
ApoE genes are associated with ulcerative colitis. Int J Colorectal Dis 2009;24:13-17.
57. Yang SK, Lim J, Chang HS és mtsai.: Association of TNFSF15 With Crohn’s Disease in Koreans.
Am J Gastroenterol 2008;103:1437-42.
58.* Tremelling M, Berzuini C, Massey D és mtsai.: Contribution of TNFSF15 gene variants to Crohn’s disease
susceptibility confirmed in UK population. Inflamm Bowel Dis 2008;14:733-7.
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59. Maza I, Miller-Lotan R, Levy AP, és mtsai.: The association of Haptoglobin polymorphism with Crohn’s
disease in Israel. JCC 2008;2:214-8.
60. Onnie CM, Fisher SA, Prescott NJ és mtsai.: Diverse effects of the CARD15 and IBD5 loci on clinical
phenotype in 630 patients with Crohn’s disease. Eur J Gastroenterol Hepatol 2008;20:37-45.
61. Sieglinde Angelberger, M.D.,1 Walter Reinisch, M.D.,1 Clemens Dejaco, és mtsai.: NOD2/CARD15
Gene Variants Are Linked to Failure of Antibiotic Treatment in Perianal Fistulating Crohn’s Disease.
Am J Gastroenterol 2008;103:1197-1202.
62. Papp M, Altorjay I, Dotan N, és mtsai.: New serological markers for inflammatory bowel disease are
associated with earlier age at onset, complicated disease behavior, risk for surgery, and
NOD2/CARD15 genotype in a Hungarian IBD cohort. Am J Gastroenterol 2008;103:665-81
63. McGovern D, Taylor KD, Landers C, és mtsai.: MAGI2 Genetic Variation and Inflammatory Bowel
Disease. Inflamm Bowel Dis 2009;15:75-83.
64.* Fowler EV, Doecke J, Simms LA, és mtsai.: ATG16L1 T300A Shows Strong Associations With Disease
Subgroups in a Large Australian IBD Population: Further Support for Significant Disease Heterogeneity.
Am J Gastroenterol 2008;103:2519-26.
65. Lakatos PL, Szamosi T, Szilvasi A és mtsai.: ATG16L1 and IL23 receptor (IL23R) genes are associated
with disease susceptibility in Hungarian CD patients. Dig Liver Dis 2008;40:867-73.
66. Van Limbergen J, Russell RK, Nimmo ER, és mtsai.: Autophagy gene ATG16L1 influences susceptibility
and disease location but not childhood-onset in Crohn’s disease in Northern Europe. Inflamm Bowel
Dis 2008;14:338-46.
67. Lappalainen M, Halme L, Turunen U és mtsai.:Association of IL23R, TNFRSF1A, and HLA-DRB1*0103
allele variants with inflammatory bowel disease phenotypes in the Finnish population. Inflamm Bowel
Dis 2008;14:1118-24.
68. Amre DK, Mack D, Israel D, és mtsai.: Association Between Genetic Variants in the IL-23R Gene and
Early-Onset Crohn’s Disease: Results From a Case-Control and Family-Based Study Among Canadian
Children. Am J Gastroenterol 2008;103:615-20
69. Okazaki T, Wang MH, Rawsthorne P, és mtsai.: Contributions of IBD5, IL23R, ATG16L1, and NOD2
to Crohn’s disease risk in a population-based case-control study: Evidence of gene-gene interactions.
Inflamm Bowel Dis 2008;14:1528-41.
70. Márquez A, Mendoza JL, Taxonera C és mtsai.: IL23R and IL12B polymorphisms in spanish IBD
patients: No evidence of interaction. Inflamm Bowel Dis 2008;14:1192-6.
71.* Latiano A, Palmieri O, Cucchiara S és mtsai.: Polymorphism of the IRGM Gene Might Predispose to
Fistulizing Behavior in Crohn ‘ s Disease. Am J Gastroenterol 2009;104:110-6.
72. Kocsis AK, Lakatos PL, Somogyvari F, és mtsai.: Association of ß-defensin 1 Single Nucleotide
Polymorphisms with Crohn’s disease. Scand J Gastroenterol 2007 online, PMID: 17943629
73. Ferguson LR, Browning BL, Huebner C és mtsai.: Single nucleotide polymorphisms in human Paneth
cell defensin A5 may confer susceptibility to inflammatory bowel disease in a New Zealand Caucasian
population. Dig Liver Dis 2008;40:723-30.
74. Lakatos PL, Altorjay I, Mandy Y, és mtsai.: Interaction between seroreactivity to microbial antigens and
genetics in Crohn’s disease: is there a role for defensins? Tissue Antigens 2008;71:552-9.
75. Hancock L, Beckly J, Geremia A és mtsai.: Clinical and molecular characteristics of isolated colonic
Crohn’s disease. Inflamm Bowel Dis 2008;14:1667-77.
76. Szamosi T, Lakatos PL, Szilvasi A és mtsai.: The 3’UTR NFKBIA Variant Is Associated with Extensive
Colitis in Hungarian IBD Patients. Dig Dis Sci 2008 online
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77. Nakahara S, Arimura Y, Saito K, és mtsai.: Association of SLC22A4/5 Polymorphisms with Steroid
Responsiveness of Inflammatory Bowel Disease in Japan. Dis Colon Rectum 2008;51:598-603.
78. Nathanson JW, Yadron NE, Farnan J és mtsai.: p53 Mutations are Associated with Dysplasia and
Progression of Dysplasia in Patients with Crohn’s Disease. Dig Dis Sci 2008;53:474-80.
79. Garrity-Park MM, Loftus EV Jr, Bryant SC, és mtsai.: Tumor Necrosis Factor-Alpha Polymorphisms in
Ulcerative Colitis-Associated Colorectal Cancer. Am J Gastroenterol 2008;103:407-15.
80. Von Stein P, Lofberg R, Kuznetsov NV és mtsai.: Multigene Analysis Can Discriminate Between Ulcerative
Colitis, Crohn’s Disease, and Irritable Bowel Syndrome. Gastroenterology 2008;134:1869-81.
81.* Saito YA, Talley NJ.: Genetics of irritble bowel syndrome. Am J Gastroenterol 2008;103:2100-4.