Promoter methylation status of hMLH1, MGMT, and CDKN2A/p16 in colorectal adenomas

World Journal of Gastroenterology

Volumn 16, Issue 28, 2010, Pages 3553-3560

  Psofaki, Vasiliki ^a   Kalogera, Chryssoula ^b   Tzambouras, Nikolaos ^b   Stephanou, Dimitrios ^b   Tsianos, Epameinondas ^b   Seferiadis, Konstantin ^b   Kolios, Georgios ^b  

^a UNIVERSITY OF IOANNINA   (Greece)

^b UNIVERSITY HOSPITAL OF IOANNINA   (Greece)

Author keywords

Cyclin dependent kinase inhibitor 2A; Human DNA mismatch repair gene mutator L homologue 1; Microsatellite instability; O 6 methylguanine DNA methyltransferase; Promoter methylation

Indexed keywords

CYCLIN DEPENDENT KINASE INHIBITOR 2A; METHYLATED DNA PROTEIN CYSTEINE METHYLTRANSFERASE; MICROSATELLITE DNA; PROTEIN MLH1; PROTEIN P16;

ADULT; ARTICLE; CARCINOGENESIS; CLINICAL ARTICLE; COLONOSCOPY; COLORECTAL ADENOMA; CONTROLLED STUDY; DNA METHYLATION; DNA REPAIR; FEMALE; GENE FREQUENCY; HUMAN; MALE; PREVALENCE; VILLOUS ADENOMA;

EID: 77955116053     PISSN: 10079327     EISSN: None     Source Type: Journal    
DOI: 10.3748/wjg.v16.i28.3553     Document Type: Article

References (36)

1. Ionov Y, Peinado MA, Malkhosyan S, Shibata D, Perucho M. Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis. Nature 1993; 363: 558-561
2. Perucho M. Tumors with microsatellite instability: many mutations, targets and paradoxes. Oncogene 2003; 22: 2223-2225
3. Toyota M, Ahuja N, Ohe-Toyota M, Herman JG, Baylin SB, Issa JP. CpG island methylator phenotype in colorectal cancer. Proc Natl Acad Sci USA 1999; 96: 8681-8686
4. Baylin SB, Herman JG, Graff JR, Vertino PM, Issa JP. Alterations in DNA methylation: a fundamental aspect of neoplasia. Adv Cancer Res 1998; 72: 141-196
5. Issa JP. CpG island methylator phenotype in cancer. Nat Rev Cancer 2004; 4: 988-993
6. Herman JG, Umar A, Polyak K, Graff JR, Ahuja N, Issa JP, Markowitz S, Willson JK, Hamilton SR, Kinzler KW, Kane MF, Kolodner RD, Vogelstein B, Kunkel TA, Baylin SB. Incidence and functional consequences of hMLH1 promoter hypermethylation in colorectal carcinoma. Proc Natl Acad Sci USA 1998; 95: 6870-6875
7. Jass JR, Biden KG, Cummings MC, Simms LA, Walsh M, Schoch E, Meltzer SJ, Wright C, Searle J, Young J, Leggett BA. Characterisation of a subtype of colorectal cancer combining features of the suppressor and mild mutator pathways. J Clin Pathol 1999; 52: 455-460
8. Whitehall VL, Walsh MD, Young J, Leggett BA, Jass JR. Methylation of O-6-methylguanine DNA methyltransferase characterizes a subset of colorectal cancer with low-level DNA microsatellite instability. Cancer Res 2001; 61: 827-830
9. Guan RJ, Fu Y, Holt PR, Pardee AB. Association of K-ras mutations with p16 methylation in human colon cancer. Gastroenterology 1999; 116: 1063-1071
10. Rashid A, Shen L, Morris JS, Issa JP, Hamilton SR. CpG island methylation in colorectal adenomas. Am J Pathol 2001; 159: 1129-1135
11. Grady WM, Rajput A, Lutterbaugh JD, Markowitz SD. Detection of aberrantly methylated hMLH1 promoter DNA in the serum of patients with microsatellite unstable colon cancer. Cancer Res 2001; 61: 900-902
12. Herman JG, Graff JR, Myöhänen S, Nelkin BD, Baylin SB. Methylation-specific PCR: a novel PCR assay for methylation status of CpG islands. Proc Natl Acad Sci USA 1996; 93: 9821-9826
13. Boland CR, Thibodeau SN, Hamilton SR, Sidransky D, Eshleman JR, Burt RW, Meltzer SJ, Rodriguez-Bigas MA, Fodde R, Ranzani GN, Srivastava S. A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Res 1998; 58: 5248-5257
14. Loukola A, Eklin K, Laiho P, Salovaara R, Kristo P, Järvinen H, Mecklin JP, Launonen V, Aaltonen LA. Microsatellite marker analysis in screening for hereditary nonpolyposis colorectal cancer (HNPCC). Cancer Res 2001; 61: 4545-4549
15. Dietmaier W, Wallinger S, Bocker T, Kullmann F, Fishel R, Rüschoff J. Diagnostic microsatellite instability: definition and correlation with mismatch repair protein expression. Cancer Res 1997; 57: 4749-4756
16. Iino H, Jass JR, Simms LA, Young J, Leggett B, Ajioka Y, Watanabe H. DNA microsatellite instability in hyperplastic polyps, serrated adenomas, and mixed polyps: a mild mutator pathway for colorectal cancer? J Clin Pathol 1999; 52: 5-9
17. Ricciardiello L, Goel A, Mantovani V, Fiorini T, Fossi S, Chang DK, Lunedei V, Pozzato P, Zagari RM, De Luca L, Fuccio L, Martinelli GN, Roda E, Boland CR, Bazzoli F. Frequent loss of hMLH1 by promoter hypermethylation leads to microsatellite instability in adenomatous polyps of patients with a single first-degree member affected by colon cancer. Cancer Res 2003; 63: 787-792
18. Arnold CN, Goel A, Compton C, Marcus V, Niedzwiecki D, Dowell JM, Wasserman L, Inoue T, Mayer RJ, Bertagnolli MM, Boland CR. Evaluation of microsatellite instability, hMLH1 expression and hMLH1 promoter hypermethylation in defining the MSI phenotype of colorectal cancer. Cancer Biol Ther 2004; 3: 73-78
19. Grady WM, Markowitz SD. Genetic and epigenetic alterations in colon cancer. Annu Rev Genomics Hum Genet 2002; 3: 101-128
20. Esteller M. Epigenetic lesions causing genetic lesions in human cancer: promoter hypermethylation of DNA repair genes. Eur J Cancer 2000; 36: 2294-2300
21. Bariol C, Suter C, Cheong K, Ku SL, Meagher A, Hawkins N, Ward R. The relationship between hypomethylation and CpG island methylation in colorectal neoplasia. Am J Pathol 2003; 162: 1361-1371
22. Park SJ, Rashid A, Lee JH, Kim SG, Hamilton SR, Wu TT. Frequent CpG island methylation in serrated adenomas of the colorectum. Am J Pathol 2003; 162: 815-822
23. Petko Z, Ghiassi M, Shuber A, Gorham J, Smalley W, Washington MK, Schultenover S, Gautam S, Markowitz SD, Grady WM. Aberrantly methylated CDKN2A, MGMT, and MLH1 in colon polyps and in fecal DNA from patients with colorectal polyps. Clin Cancer Res 2005; 11: 1203-1209
24. Kakar S, Deng G, Cun L, Sahai V, Kim YS. CpG island methylation is frequently present in tubulovillous and villous adenomas and correlates with size, site, and villous component. Hum Pathol 2008; 39: 30-36
25. Chan AO, Broaddus RR, Houlihan PS, Issa JP, Hamilton SR, Rashid A. CpG island methylation in aberrant crypt foci of the colorectum. Am J Pathol 2002; 160: 1823-1830
26. Wynter CV, Walsh MD, Higuchi T, Leggett BA, Young J, Jass JR. Methylation patterns define two types of hyperplastic polyp associated with colorectal cancer. Gut 2004; 53: 573-580
27. Veigl ML, Kasturi L, Olechnowicz J, Ma AH, Lutterbaugh JD, Periyasamy S, Li GM, Drummond J, Modrich PL, Sedwick WD, Markowitz SD. Biallelic inactivation of hMLH1 by epigenetic gene silencing, a novel mechanism causing human MSI cancers. Proc Natl Acad Sci USA 1998; 95: 8698-8702
28. Esteller M. CpG island hypermethylation and tumor suppressor genes: a booming present, a brighter future. Oncogene 2002; 21: 5427-5440
29. Lee S, Hwang KS, Lee HJ, Kim JS, Kang GH. Aberrant CpG island hypermethylation of multiple genes in colorectal neoplasia. Lab Invest 2004; 84: 884-893
30. Atkin WS, Morson BC, Cuzick J. Long-term risk of colorectal cancer after excision of rectosigmoid adenomas. N Engl J Med 1992; 326: 658-662
31. Loeve F, van Ballegooijen M, Snel P, Habbema JD. Colorectal cancer risk after colonoscopic polypectomy: a populationbased study and literature search. Eur J Cancer 2005; 41: 416-422
32. Martínez ME, Sampliner R, Marshall JR, Bhattacharyya AK, Reid ME, Alberts DS. Adenoma characteristics as risk factors for recurrence of advanced adenomas. Gastroenterology 2001; 120: 1077-1083
33. Kim HC, Roh SA, Ga IH, Kim JS, Yu CS, Kim JC. CpG island methylation as an early event during adenoma progression in carcinogenesis of sporadic colorectal cancer. J Gastroenterol Hepatol 2005; 20: 1920-1926
34. Kim YH, Petko Z, Dzieciatkowski S, Lin L, Ghiassi M, Stain S, Chapman WC, Washington MK, Willis J, Markowitz SD, Grady WM. CpG island methylation of genes accumulates during the adenoma progression step of the multistep pathogenesis of colorectal cancer. Genes Chromosomes Cancer 2006; 45: 781-789
35. Kane MF, Loda M, Gaida GM, Lipman J, Mishra R, Goldman H, Jessup JM, Kolodner R. Methylation of the hMLH1 promoter correlates with lack of expression of hMLH1 in sporadic colon tumors and mismatch repair-defective human tumor cell lines. Cancer Res 1997; 57: 808-811
36. Laiho P, Launonen V, Lahermo P, Esteller M, Guo M, Herman JG, Mecklin JP, Järvinen H, Sistonen P, Kim KM, Shibata D, Houlston RS, Aaltonen LA. Low-level microsatellite instability in most colorectal carcinomas. Cancer Res 2002; 62: 1166-1170