DNA methylation biomarkers as diagnostic and prognostic tools in colorectal cancer

Journal of Molecular Medicine

Volumn 91, Issue 11, 2013, Pages 1249-1256

  Gyparaki, Melina Theoni ^a   Basdra, Efthimia K ^a   Papavassiliou, Athanasios G ^a  

^a UNIVERSITY OF ATHENS MEDICAL SCHOOL   (Greece)

Author keywords

Biomarkers; CIMP; CIN; Colorectal cancer; DNA methylation; MSI

Indexed keywords

BIOLOGICAL MARKER; DNA; MICRORNA; SEPT9 PROTEIN; TUMOR PROTEIN; UNCLASSIFIED DRUG; VIMENTIN;

BLOOD ANALYSIS; CANCER CLASSIFICATION; CANCER DIAGNOSIS; CANCER GENETICS; CANCER PROGNOSIS; COLORECTAL CANCER; DNA METHYLATION; FECES ANALYSIS; HUMAN; MOLECULAR BIOLOGY; REVIEW; RNA METHYLATION;

ANIMALS; COLON; COLORECTAL NEOPLASMS; CPG ISLANDS; DNA METHYLATION; EPIGENESIS, GENETIC; GENOMIC INSTABILITY; HUMANS; PROGNOSIS; TUMOR MARKERS, BIOLOGICAL;

EID: 84888584337     PISSN: 09462716     EISSN: 14321440     Source Type: Journal    
DOI: 10.1007/s00109-013-1088-z     Document Type: Review

References (56)

1. Siegel R, Naishadham D, Jemal A (2013) Cancer statistics, 2013. CA Cancer J Clin 63:11-30
2. Brenner H, Bouvier AM, Foschi R, Hackl M, Larsen IK, Lemmens V, Mangone L, Francisci S, The EUROCARE Working Group (2012) Progress in colorectal cancer survival in Europe from the late 1980s to the early 21st century: the EUROCARE study. Int J Cancer 131:1649-1658
3. Ludwig JA, Weinstein JN (2005) Biomarkers in cancer staging, prognosis and treatment selection. Nat Rev Cancer 5:845-856
4. Toyota M, Ahuja N, Ohe-Toyota M, Herman JG, Baylin SB, Issa JP (1999) CpG island methylator phenotype in colorectal cancer. Proc Natl Acad Sci U S A 96:8681-8686
5. Worthley DL, Leggett BA (2010) Colorectal cancer: molecular features and clinical opportunities. Clin Biochem Rev 31:31-38
6. Derks S, van Engeland M (2012) Promoter CpG island methylation in colorectal cancer. In: Appasani K (ed) Epigenomics: from chromatin biology to therapeutics, 1st edn. Cambridge University Press, Cambridge, pp 307-308
7. Philips T (2008) The role of methylation in gene expression. Nat Edu 1:127
8. Laird PW, Jaenisch R (1994) DNA methylation and cancer. Hum Mol Genet 3:1487-1495
9. Toyota M, Suzuki H, Sasaki Y, Maruyama R, Imai K, Shinomura Y, Tokino T (2008) Epigenetic silencing of microRNA-34b/c and B-cell translocation gene 4 is associated with CpG island methylation in colorectal cancer. Cancer Res 68:4123-4132
10. Bandres E, Agirre X, Bitarte N, Ramirez N, Zarate R, Roman-Gomez J, Prosper F, Garcia-Foncillas J (2009) Epigenetic regulation of microRNA expression in colorectal cancer. Int J Cancer 125:2737-2743
11. Hildebrandt MA, Gu J, Lin J, Ye Y, Tan W, Tamboli P, Wood CG, Wu X (2010) Hsa-miR-9 methylation status is associated with cancer development and metastatic recurrence in patients with clear cell renal cell carcinoma. Oncogene 29:5724-5728
12. Curtin K, Slattery ML, Samowitz WS (2011) CpG island methylation in colorectal cancer: past, present and future. Patholog Res Int 2011:902674. doi: 10.4061/2011/902674
13. Goel A, Nagasaka T, Arnold CN, Inoue T, Hamilton C, Niedzwiecki D, Compton C, Mayer RJ, Goldberg R, Bertagnolli MM et al (2007) The CpG island methylator phenotype and chromosomal instability are inversely correlated in sporadic colorectal cancer. Gastroenterology 132:127-138
14. Snover DC (2011) Update on the serrated pathway to colorectal carcinoma. Hum Pathol 42:1-10
15. Ahn JB, Chung WB, Maeda O, Shin SJ, Kim HS, Chung HC, Kim NK, Issa JP (2011) DNA methylation predicts recurrence from resected stage III proximal colon cancer. Cancer 117:1847-1854
16. Kim KM, Lee EJ, Ha S, Kang SY, Jang KT, Park CK, Kim JY, Kim YH, Chang DK, Odze RD (2011) Molecular features of colorectal hyperplastic polyps and sessile serrated adenoma/polyps from Korea. Am J Surg Pathol 35:1274-1286
17. Suzuki H, Igarashi S, Nojima M, Maruyama R, Yamamoto E, Kai M, Akashi H, Watanabe Y, Yamamoto H, Sasaki Y et al (2010) IGFBP7 is a p53-responsive gene specifically silenced in colorectal cancer with CpG island methylator phenotype. Carcinogenesis 31:342-349
18. Dimberg J, Hong TT, Skarstedt M, Löfgren S, Zar N, Matussek A (2013) Analysis of APC and IGFBP7 promoter gene methylation in Swedish and Vietnamese colorectal cancer patients. Oncol Lett 5:25-30
19. Leggett B, Whitehall V (2010) Role of the serrated pathway in colorectal cancer pathogenesis. Gastroenterology 138:2088-2100
20. Ogino S, Meyerhardt JA, Kawasaki T, Clark JW, Ryan DP, Kulke MH, Enzinger PC, Wolpin BM, Loda M, Fuchs CS (2007) CpG island methylation, response to combination chemotherapy, and patient survival in advanced microsatellite stable colorectal carcinoma. Virchows Arch 450:529-537
21. Ebert MPA, Tänzer M, Balluff B, Burgermeister E, Kretzschmar AK, Hughes DJ, Tetzner R, Lofton-Day C, Rosenberg R, Reinacher-Schick AC et al (2012) TFAP2E-DKK4 and chemoresistance in colorectal cancer. N Engl J Med 366:44-53
22. Lee JH, Kang MJ, Han HY, Lee MG, Jeong SI, Ryu BK, Ha TK, Her NG, Han J, Park SJ et al (2011) Epigenetic alteration of PRKCDBP in colorectal cancers and its implication in tumor cell resistance to TNF-α-induced apoptosis. Clin Cancer Res 17:7551-7562
23. Boland CR, Goel A (2010) Microsatellite instability in colorectal cancer. Gastroenterology 138:2073-2087
24. Dahlin AM, Palmqvist R, Henriksson ML, Jacobsson M, Eklöf V, Rutegård J, Oberg A, Van Guelpen BR (2010) The role of the CpG island methylator phenotype in colorectal cancer prognosis depends on microsatellite instability screening status. Clin Cancer Res 16:1845-1855
25. Popat S, Hubner R, Houlston RS (2005) Systematic review of microsatellite instability and colorectal cancer prognosis. J Clin Oncol 23:609-618
26. Hrašovec S, Glavač D (2012) MicroRNAs as novel biomarkers in colorectal cancer. Front Genet 3:180. doi: 10.3389/fgene.2012.00180
27. Derks S, Postma C, Carvalho B, van den Bosch SM, Moerkerk PT, Herman JG, Weijenberg MP, de Bruïne AP, Meijer GA, van Engeland M (2008) Integrated analysis of chromosomal, microsatellite and epigenetic instability in colorectal cancer identifies specific associations between promoter methylation of pivotal tumour suppressor and DNA repair genes and specific chromosomal alterations. Carcinogenesis 29:434-439
28. Warren JD, Xiong W, Bunker AM, Vaughn CP, Furtado LV, Roberts WL, Fang JC, Samowitz WS, Heichman KA (2011) Septin 9 methylated DNA is a sensitive and specific blood test for colorectal cancer. BMC Med 9:133-141
29. Tóth K, Sipos F, Kalmar A, Patai AV, Wichmann B, Stoehr R, Golcher H, Scheller V, Tulassay Z, Molnár B (2012) Detection of methylated SEPT9 in plasma is a reliable screening method for both left- and right-sided colon cancers. PLoS One 7(11):e48547. doi: 10.1371/journal.pone.0046000
30. TM test. PLoS Curr 3:RRN1220. doi: 10.1371/currents.RRN1220
31. Oh T, Kim N, Moon Y, Soon Kim M, Hoehn BD, Hee Park C, Soo Kim T, Kyu Kim N, Cheol Chung H, An S (2013) Genome-wide identification and validation of a novel methylation biomarker, SDC2, for blood-based detection of colorectal cancer. J Mol Diagn 15:498-507
32. Nishio M, Sakakura C, Nagata T, Komiyama S, Miyashita A, Hamada T, Kuryu Y, Ikoma H, Kubota T, Kimura A et al (2010) RUNX3 promoter methylation in colorectal cancer: its relationship with microsatellite instability and its suitability as a novel serum tumor marker. Anticancer Res 30:2673-2682
33. Wu PP, Zou JH, Tang RN, Yao Y, You CZ (2011) Detection and clinical significance of DLC1 gene methylation in serum DNA from colorectal cancer patients. Chin J Cancer Res 23:283-287
34. Herbst A, Rahmig K, Stieber P, Philipp A, Jung A, Ofner A, Crispin A, Neumann J, Lamerz R, Kolligs FT (2011) Methylation of NEUROG1 in serum is a sensitive marker for the detection of early colorectal cancer. Am J Gastroenterol 106:1110-1118
35. Melotte V, Lentjes MHFM, van den Bosch SM, Hellenbrekers DMEI, de Hoon JPJ, Wouters KAD, Daenen KLJ, Partouns-Hendriks IEJM, Stressels F, Louwagie J et al (2009) N-myc downstream-regulated gene 4 (NDRG4): a candidate tumor suppressor gene and potential biomarker for colorectal cancer. J Natl Cancer Inst 101:916-927
36. Glöckner SC, Dhir M, Yi JM, McGarvey KE, Van Neste L, Louwagie J, Chan TA, Kleeberger W, de Bruïne AP, Smits KM et al (2009) Methylation of TFPI2 in stool DNA: a potential novel biomarker for the detection of colorectal cancer. Cancer Res 69:4691-4699
37. Hibi K, Goto T, Kitamura YH, Yokomizo K, Sakuraba K, Shirahata A, Mizukami H, Saito M, Ishibashi K, Kigawa G et al (2010) Methylation of TFPI2 gene is frequently detected in advanced well-differentiated colorectal cancer. Anticancer Res 30:1205-1207
38. Hibi K, Goto T, Shirahata A, Saito M, Kigawa G, Nemoto H, Sanada Y (2011) Detection of TFPI2 methylation in the serum of colorectal cancer patients. Cancer Lett 311:96-100
39. Takada H, Wakabayashi N, Dohi O, Yasui K, Sakakura C, Mitsufuji S, Taniwaki M, Yoshikawa T (2010) Tissue factor pathway inhibitor 2 (TFPI2) is frequently silenced by aberrant promoter hypermethylation in gastric cancer. Cancer Genet Cytogenet 197:16-24
40. Hellebrekers DMEI, Lentjes MHFM, van den Bosch SM, Melotte V, Wouters KAD, Daenen KLJ, Smits KM, Akiyama Y, Yuasa Y, Sanduleanu S et al (2009) GATA4 and GATA5 are potential tumor suppressors and biomarkers in colorectal cancer. Clin Cancer Res 15:3990-3997
41. Wang DR, Tang D (2008) Hypermethylated SFRP2 gene in fecal DNA is a high potential biomarker for colorectal cancer noninvasive screening. World J Gastroenterol 14:524-531
42. Lind GE, Danielsen SA, Ahlquist T, Merok MA, Andresen K, Skotheim RI, Hektoen M, Rognum TO, Meling GI, Hoff G et al (2011) Identification of an epigenetic biomarker panel with high sensitivity and specificity for colorectal cancer and adenomas. Mol Cancer 10:85-99
43. Ahlquist DA, Taylor WR, Mahoney DW, Zou H, Domanico M, Thibodeau SN, Boardman LA, Berger BM, Lidgard GP (2012) The stool DNA test is more accurate than the plasma septin 9 test in detecting colorectal neoplasia. Clin Gastroenterol Hepatol 10:272-277
44. Carmona FJ, Azuara D, Berenguer-Llergo A, Fernández AF, Biondo S, de Oca J, Rodriguez-Moranta F, Salazar R, Villanueva A, Fraga MF et al (2013) DNA methylation biomarkers for noninvasive diagnosis of colorectal cancer. Cancer Prev Res 6:656-665
45. Lee BB, Lee EJ, Jung EH, Chun HK, Chang DK, Song SY, Park J, Kim DH (2009) Aberrant methylation of APC, MGMT, RASSF2A, and Wif-1 genes in plasma as a biomarker for early detection of colorectal cancer. Clin Cancer Res 15:6185-6191
46. Huang Z, Huang D, Ni S, Peng Z, Sheng W, Du X (2010) Plasma microRNAs are promising novel biomarkers for early detection of colorectal cancer. Int J Cancer 127:118-126
47. Schee K, Fodstad Ø, Flatmark K (2010) MicroRNAs as biomarkers in colorectal cancer. Am J Pathol 177:1592-1599
48. Grady WM, Parkin RK, Mitchell PS, Lee JH, Kim YH, Tsuchiya KD, Washington MK, Paraskeva C, Wilson JKV, Kaz AM et al (2008) Epigenetic silencing of the intronic microRNA hsa-miR-342 and its host gene EVL in colorectal cancer. Oncogene 27:3880-3888
49. Wang F, Ma YL, Zhang P, Shen TY, Shi CZ, Yang YZ, Moyer MP, Zhang HZ, Chen HQ, Liang Y et al (2013) SP1 mediates the link between methylation of the tumour suppressor miR-149 and outcome in colorectal cancer. J Pathol 229:12-24
50. Grosse-Gehling P, Fargeas CA, Dittfeld C, Garbe Y, Alison MR, Corbeil D, Kunz-Schughart LA (2013) CD133 as a biomarker for putative cancer stem cells in solid tumours: limitations, problems and challenges. J Pathol 229:355-378
51. Sakthianandeswaren A, Christie M, D'Andreti C, Tsui C, Jorissen RN, Li S, Fleming NI, Gibbs P, Lipton L, Malaterre J et al (2011) PHLDA1 expression marks the putative epithelial stem cells and contributes to intestinal tumorigenesis. Cancer Res 71:3709-3719
52. Li X, Yao X, Wang Y, Hu F, Wang F, Jiang L, Liu Y, Wang D, Sun G, Zhao Y (2013) MLH1 promoter methylation frequency in colorectal cancer patients and related clinicopathological and molecular features. PLoS One 8(3):e59064. doi: 10.1371/journal.pone.0059064
53. Ogino S, Kawasaki T, Kirkner GJ, Kraft P, Loda M, Fuchs CS (2007) Evaluation of markers for CpG island methylator phenotype (CIMP) in colorectal cancer by a large population-based sample. J Mol Diagn 9:305-314
54. Rawson JB, Mrkonjic M, Daftary D, Dicks E, Buchanan DD, Younghusband HB, Parfrey PS, Young JP, Pollett A, Green RC et al (2011) Promoter methylation of Wnt5a is associated with microsatellite instability and BRAF V600E mutation in two large populations of colorectal cancer patients. Br J Cancer 104:1906-1912
55. Goto T, Mizukami H, Shirahata A, Sakata M, Saito M, Ishibashi K, Kigawa G, Nemoto H, Sanada Y, Hibi K (2009) Aberrant methylation of the p16 gene is frequently detected in advanced colorectal cancer. Anticancer Res 29:275-277
56. Peng H, Long F, Wu Z, Chu Y, Li J, Kuai R, Zhang J, Kang Z, Zhang X, Guan M (2013) Downregulation of DLC-1 gene by promoter methylation during primary colorectal cancer progression. Biomed Res Int 2013:181384. doi: 10.1155/2013/181384