MTHFR C677T has differential influence on risk of MSI and MSS colorectal cancer

Human Molecular Genetics

Volumn 16, Issue 9, 2007, Pages 1072-1077

  Hubner, Richard A ^a   Lubbe, Steven ^a   Chandler, Ian ^a   Houlston, Richard S ^a  

^a INSTITUTE OF CANCER RESEARCH   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2);

ADULT; AGED; ARTICLE; CANCER CONTROL; CANCER RISK; COLORECTAL CANCER; CONFIDENCE INTERVAL; CONTROLLED STUDY; DNA METHYLATION; ENVIRONMENTAL FACTOR; FEMALE; FOLATE METABOLISM; GENE FREQUENCY; GENE FUNCTION; GENE REPRESSION; GENE SILENCING; GENETIC ANALYSIS; GENETIC CODE; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENOTYPE; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MICROSATELLITE INSTABILITY; PHENOTYPE; PRIORITY JOURNAL; PROMOTER REGION;

ADULT; AGED; COLORECTAL NEOPLASMS; DNA METHYLATION; FEMALE; FOLIC ACID; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOMIC INSTABILITY; GENOTYPE; GERM-LINE MUTATION; HUMANS; MALE; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); MICROSATELLITE REPEATS; MIDDLE AGED; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 34447527602     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddm055     Document Type: Article

References (38)

1. Lengauer, C., Kinzler, K.W. and Vogelstein, B. (1997) Genetic instability in colorectal cancers. Nature, 386, 623-627.
2. Fearon, E.R. and Vogelstein, B. (1990) A genetic model for colorectat tumorigenesis. Cell, 61, 759-767.
3. Jover, R., Zapater, P., Castells, A., Llor, X., Andreu, M., Cubiella, J., Pinol, V., Xicola, R.M., Bujanda, L., Rene, J.M. et al. (2006) Mismatch repair status in the prediction of benefit from adjuvant fluorouracil chemotherapy in colorectal cancer. Gut, 55, 848-855.
4. Popat, S., Hubner, R. and Houlston, R.S. (2005) Systematic review of microsatellite instability and colorectal cancer prognosis. J. Clin. Oncol., 21, 609-618.
5. Das, P.M. and Singal, R. (2004) DNA methylation and cancer. J. Clin. Oncol, 22, 4632-4642.
6. Jones, P.A. and Baylin, S.B. (2002) The fundamental role of epigenetic events in cancer. Nat. Rev. Genet., 3, 415-428.
7. Ehrlich, M. (2002) DNA methylation in cancer: Too much, but also too little. Oncogene, 21, 5400-5413.
8. S. Eden, A., Gaudet, F., Waghmare, A. and Jaenisch, R. (2003) Chromosomal instability and tumors promoted by DNA hypomethylation. Science, 300, 455.
9. Liu, B., Nicolaides, N.C., Markowitz, S., Willson, J.K., Parsons, R.E., Jen, J., Papadopolous, N., Peltomaki, P., de la Chapelle, A., Hamilton, S.R. et al. (1995) Mismatch repair gene defects in sporadic colorectal cancers with microsatellite instability. Nat. Genet., 9, 48-55.
10. Stern, L.L., Mason, J.B., Selhub, J. and Choi, S.W. (2000) Genomic DNA hypomethylation, a characteristic of most cancers, is present in peripheral leukocytes of individuals who are homozygous for the C677T polymorphism in the methylenetetrahydrofolate reductase gene. Cancer Epidemiol. Biomarkers Prev., 9, 849-853.
11. Choi, S.W. and Mason, J.B. (2000) Folate and carcinogenesis: An integrated scheme. J. Nutr., 130, 129-132.
12. Leclerc, D., Wilson, A., Dumas, R., Gafuik, C., Song, D., Watkins, D., Heng, H.H., Rommens, J,M., Scherer, S.W., Rosenblatt, D.S. et al. (1998) Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria. Proc. Natl. Acad. Sci. USA, 95, 3059-3064.
13. Frosst, P., Blom, H.J., Milos, R., Goyette, P., Sheppard, C.A., Matthews, R.G., Boers, G.J., den Heijer, M. Kluijtmans, L.A., van den Heuvel, L.P. et al. (1995) A candidate genetic risk factor for vascular disease: A common mutation in methylenetetrahydrofolate reductase. Nat. Genet., 10, 111-113.
14. Ma, J., Stampfer, M.J., Giovannucci, E., Artigas, C., Hunter, D.J., Fuchs, C., Willett, W.C., Selhub, J., Hennekens, C.H. and Rozen, R. (1997) Methylenetetrahydrofolate reductase polymorphism, dietary interactions, and risk of colorectal cancer. Cancer Res., 57 1098-1102.
15. Paz, M.F., Avila, S., Fraga, M.F., Pollan, M., Capella, G., Peinado, M.A., Sanchez-Cespedes, M., Herman, I.G. and Esteller, M. (2002) Germ-line variants in methyl-group metabolism genes and susceptibility to DNA methylation in normal tissues and human primary tumors. Cancer Res., 62, 4519-4524.
16. Olteanu, H., Munson, T. and Banerjee, R. (2002) Differences in the efficiency of reductive activation of methionine synthase and exogenous electron acceptors between the common polymorphic variants of human methionine synthase reductase. Biochemistry, 41, 13378-13385.
17. Hubner, R.A., Muir, K.R., Liu, J.F., Sellick, G.S., Logan, R.F., Grainge, M., Armitage, N., Chau, I. and Houlston, R.S. (2006) Folate metabolism polymorphisms influence risk of colorectal adenoma recurrence. Cancer Epidemiol. Biomarkers Prev., 15, 1607-1613.
18. Hoang, J.M., Cottu, P.H., Thuille, B., Salmon, R.J., Thomas, G. and Hamelin, R. (1997) BAT-26, an indicator of the replication error phenotype in colorectal cancers and cell lines. Cancer Res., 57 300-303.
19. Zhou, X.P., Hoang, J.M., Li, Y.J., Senica, R., Carneiro, F., Sobrinho-Simoes, M., Lothe, R.A., Gleeson, C.M., Russell, S.E., Muzeau, F. et al. (1998) Determination of the replication error phenotype in human tumors without the requirement for matching normal DNA by analysis of mononucleotide repeat microsatellites. Genes Chromosomes Cancer, 21, 101-107.
20. Stone, J.G., Tomlinson, I.P. and Houlston, R.S. (2000) Optimising methods for determining RER status in colorectal cancers. Cancer Lett., 149, 15-20.
21. Ogino, S. and Wilson, R.B. (2003) Genotype and haplotype distributions of MTHFR677C→T and 1298A→C single micleotide polymorphisms: A meta-analysis. J. Hum. Genet., 48, 1-7.
22. Kawakami, K., Ruszkiewicz, A., Bennett, G., Moore, J., Watanabe, G. and Iacopetta, B. (2003) The folate pool in colorectal cancers is associated with DNA hypermethylation and with a polymorphism in methylenetetrahydrofolate reductase. Clin. Cancer Res., 9, 5860-5865.
23. Oyama, K., Kawakami, K., Maeda, K., Ishiguro, K. and Watanabe, G. (2004) The association between methylenetetrahydrofolate reductase polymorphism. and promoter methylation in proximal colon cancer. Anticancer Res., 24, 649-654.
24. Hubner, R.A. and Houlston, R.S. (2007) MTHFR C677T and colorectal cancer risk: A meta-analysis of 25 populations. Int. J. Cancer, 120 1027-1035.
25. Weisberg, I., Tran, P., Christensen, B., Sibani, S. and Rozen, R. (1998) A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity. Mol. Genet. Metab. 64, 169-172.
26. Chen, J., Ma, J., Stampfer, M.J., Palomeque, C., Selhub, J. and Hunter, D.J. (2002) Linkage disequilibrium between the 677C→T and 1298A→C polymorphisms in human methylenetetrahydrofolate reductase gene and their contributions to risk of colorectal cancer. Pharmacogenetics 12, 339-342.
27. Shannon, B., Gnanasampanthan, S., Beilby, J. and Iacopetta, B. (2002) A polymorphism in the methylenetetrahydrofolate reductase gene predisposes to colorectal cancers with microsatellite instability. Gut, 50 520-524.
28. Eaton, A.M., Sandler, R., Carethers, J.M., Millikan, R.C., Galanko, J. and Keku, T.O. (2005) 5,10-methylenetetrahydrofolate reductase 677 and 1298 polymorphisms, folate intake, and microsatellite instability in colon cancer. Cancer Epidemiol. Biomarkers Prev., 14, 2023-2029.
29. Kim, Y.I. (1999) Folate and carcinogenesis: Evidence, mechanisms, and implications. J. Nutr. Biochem., 10, 66-88.
30. Davey Smith, G. and Ebrahim, S. (2003) 'Mendelian randomization': Can genetic epidemiology contribute to understanding environmental determinants of disease? Int. J. Epidemiol., 32, 1-22.
31. Sanjoaquin, M.A., Allen, N., Couto, E., Roddam, A.W. and Key, T.J. (2005) Folate intake and colorectal cancer risk: A meta-analytical approach. Int. J. Cancer, 113, 825-828.
32. Van Guelpen, B., Hultdin, J., Johansson, I., Hallmans, G., Stenling, R., Riboli, E., Winkvist, A. and Palmqvist, R. (2006) Low folate levels may protect against colorectal cancer. Gut, 55, 1461-1466.
33. Clarizia, A.D., Bastos-Rodrigues, L., Pena, H.B., Anacleto, C., Rossi, B., Soares, F.A., Lopes, A., Rocha, J.C., Caballero, O., Camargo, A. et al. (2006) Relationship of the methylenetetrahydrofolate reductase C677T polymorphism with microsatellite instability and promoter hypermethylation in sporadic colorectal cancer. Genet. Mol. Res., 5, 315-322.
34. Chang, S.C., Lin, P.C., Lin, J.K., Yang, S.H., Wang, H.S. and Fen-Yau Li, A. (2006) Role of MTHFR polymorphisms and folate levels in different phenotypes of sporadic colorectal cancers. Int. J. Colorectal. Dis [Epub ahead of print].
35. Toffoli, G., Gafa, R., Russo, A., Lanza, G., Dolcetti, R., Sartor, F., Libra, M., Viel, A. and Boiocchi, M. (2003) Methylenetetrahydrofolate reductase 677 C→T polymorphism and risk of proximal colon cancer in north Italy. Clin. Cancer Res., 9, 743-748.
36. Plaschke, J., Schwanebeck, U., Pistorius, S., Saeger, H.D. and Schackert, H.K. (2003) Methylenetetrahydrofolate reductasic polymorphisms and risk of sporadic and hereditary colorectal cancer with or without microsatellite instability. Cancer Lett., 191, 179-185.
37. National Study of Colorectal Cancer Genetics Trial, http://www.ncm.org.uk/portfolio/data.asp?ID=1269 (Last accessed January 2006).
38. Perucho, M. (1999) Correspondence re: C.R. Boland et al., 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., 58, 1998, 5248-5257; 59, 249-256.