Effect of the methylenetetrahydrofolate reductase C677T polymorphism on chemosensitivity of colon and breast cancer cell to 5-fluorouracil and methotrexate

Journal of the National Cancer Institute

Volumn 96, Issue 2, 2004, Pages 134-144

  Sohn, Kyoung Jin ^a   Croxford, Ruth ^c   Yates, Zoe ^d   Lucock, Mark ^e   Kim, Young In ^a,b,f  

^a UNIVERSITY OF TORONTO   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

^c SUNNYBROOK RESEARCH INSTITUTE   (Canada)

^d UNIVERSITY OF LEEDS   (United Kingdom)

^e UNIVERSITY OF NEWCASTLE   (Australia)

^f ST MICHAEL'S HOSPITAL   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); COMPLEMENTARY DNA; CYTOSINE; FLUOROURACIL; FOLIC ACID; METHOTREXATE; SULFORHODAMINE B; THYMIDYLATE SYNTHASE; TYROSINE;

ANIMAL CELL; ANIMAL EXPERIMENT; ARTICLE; BREAST CANCER; CANCER CELL CULTURE; CELL COMPOSITION; CELL GROWTH; CELLULAR DISTRIBUTION; CHEMOSENSITIVITY; COLON CANCER; CONCENTRATION (PARAMETERS); CONTROLLED STUDY; CYTOTOXICITY; DRUG MECHANISM; ENZYME ACTIVITY; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC TRANSFECTION; GROWTH RATE; HEAT SENSITIVITY; HUMAN; HUMAN CELL; HYPOTHESIS; IN VITRO STUDY; IN VIVO STUDY; MODULATION; MOUSE; NONHUMAN; NUDE MOUSE; PHARMACOGENETICS; PRIORITY JOURNAL; PROTEIN EXPRESSION; SINGLE NUCLEOTIDE POLYMORPHISM; TUMOR GROWTH; TUMOR XENOGRAFT; WILD TYPE;

EID: 1042292043     PISSN: 00278874     EISSN: None     Source Type: Journal    
DOI: 10.1093/jnci/djh015     Document Type: Article

References (43)

1. Guyette P, Sumner JS, Milos R, Duncan AM, Rosenblatt DS, Matthews RG, et al. Human methylenetetrahydrofolate reductase: isolation of cDNA mapping and mutation identification [Published erratum appears in Nat Genet 1994;7:551]. Nat Genet 1994;7:195-200.
2. Frosst P, Blom HJ, Milos R, Goyette P, Sheppard CA, Matthews RG, et al. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet 1995;10:111-3.
3. van der Put NM, Steegers-Theunissen RP, Frosst P, Trijbels FJ, Eskes TK, van den Heuvel LP, et al. Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida. Lancet 1995;346:1070-1.
4. Ma J, Stampfer MJ, Hennekens CH, Frosst P, Selhub J, Horsford J, et al. Methylenetetrahydrofolate reductase polymorphism, plasma folate, homocysteine, and risk of myocardial infarction in US physicians. Circulation 1996;94:2410-6.
5. Jacques PF, Bostom AG, Williams RR, Ellison RC, Eckfeldt JH, Rosenberg IH, et al. Relation between folate status, a common mutation in methylenetetrahydrofolate reductase, and plasma homocysteine concentrations. Circulation 1996;93:7-9.
6. Bagley PJ, Selhub J. A common mutation in the methylenetetrahydrofolate reductase gene is associated with an accumulation of formylated tetrahydrofolates in red blood cells. Proc Natl Acad Sci U S A 1998;95:13217-20.
7. Friso S, Choi SW, Girelli D, Mason JB, Dolnikowski GG, Bagley PJ, et al. A common mutation in the 5,10-methylenetetrahydrofolate reductase gene affects genomic DNA methylation through an interaction with folate status. Proc Natl Acad Sci U S A 2002;99:5606-11.
8. Ueland PM, Hustad S, Schneede J, Refsum H, Vollset SE. Biological and clinical implications of the MTHFR C677T polymorphism. Trends Pharmacol Sci 2001;22:195-201.
9. Kuhn JG. Fluorouracil and the new oral fluorinated pyrimidines. Ann Pharmacother 2001;35:217-27.
10. Calvert H. An overview of folate metabolism: features relevant to the action and toxicities of antifolate anticancer agents. Semin Oncol 1999;26: 3-10.
11. von Ahsen N, Oellerich M, Schutz E. A method for homogeneous color-compensated genotyping of factor V (G1691A) and methylenetetrahydrofolate reductase (C677T) mutations using real-time multiplex fluorescence PCR. Clin Biochem 2000;33:535-9.
12. Frohman MA, Dush MK, Martin GR. Rapid production of full-length cDNAs from rare transcripts: amplification using a single gene-specific oligonucleotide primer. Proc Natl Acad Sci U S A 1998;85:8998-9002.
13. Michael SF. Mutagenesis by incorporation of a phosphorylated oligo during PCR amplification. Biotechniques 1994;16:410-2.
14. Goyette P, Christensen B, Rosenblatt DS, Rozen R. Severe and mild mutations in cis for the methylenetetrahydrofolate reductase (MTHFR) gene, and description of five novel mutations in MTHFR. Am J Hum Genet 1996;59:1268-75.
15. Rosenblatt DS, Erbe RW. Methylenetetrahydrofolate reductase in cultured human cells. II. Genetic and biochemical studies of methylenetetrahydrofolate reductase deficiency. Pediatr Res 1977;11:1141-3.
16. Lucock MD, Green M, Priestnall M, Daskalakis I, Levene MI, Hartley R. Optimisation of chromatographic conditions for the determination of folates in foods and biological tissues for nutritional and clinical work. Food Chem 1995;53:329-38.
17. Lucock M, Yates Z, Hall K, Leeming R, Rylance G, MacDonald A, et al. The impact of phenylketonuria on folate metabolism. Mol Genet Metab 2002;76:305-12.
18. Skehan P, Storeng R, Scudiero D, Monks A, McMahon J, Vistica D, et al. New colorimetric cytotoxicity assay for anticancer-drug screening. J Natl Cancer Inst 1990;82:1107-12.
19. Keepers YP, Pizac, PE, Peters GJ, van Ark-Otte J, Winograd B, Pinedo HM. Comparison of the sulforhodamine B protein and tetrazolium (MTT) assays for in vitro chemosensitivity testing. Eur J Cancer 1991;27:897-900.
20. Peters GJ, Wets M, Keepers YP, Oskam R, van Ark-Otte J, Noordhuis P, et al. Transformation of mouse fibroblasts with the oncogenes H-ras OR trk is associated with pronounced changes in drug sensitivity and metabolism. Int J Cancer 1993;54:450-5.
21. Bras-Goncalves RA, Pocard M, Formento JL, Poirson-Bichat F, De Pinieux G, Pandrea I, et al. Synergistic efficacy of 3n-butyrate and 5-fluorouracil in human colorectal cancer xenografts via modulation of DNA synthesis. Gastroenterology 2001;120:874-88.
22. Bras-Goncalves RA, Rosty C, Laurent-Puig P, Soulie P, Dutrillaux B, Poupon MF. Sensitivity to CPT-11 of xenografted human colorectal cancers as a function of microsatellite instability and p53 status. Br J Cancer 2000;82:913-23.
23. Peters GJ, Laurensse E, Leyva A, Pinedo HM. Purine nucleosides as cell-specific modulators of 5-fluorouracil metabolism and cytotoxicity. Eur J Cancer Clin Oncol 1987;23:1869-81.
24. Draper NR, Smith H. Applied regression analysis. 2nd ed. New York (NY): John Wiley & Sons; 1981. p. 47-51.
25. Nagasubramanian R, Innocenti F, Ratain MJ. Pharmacogenetics in cancer treatment. Annu Rev Med 2003;54:437-52.
26. Kemeny N, Lokich JJ, Anderson N, Ahlgren JD. Recent advances in the treatment of advanced colorectal cancer. Cancer 1993;71:9-18.
27. Johnston PG, Fisher ER, Rockette HE, Fisher B, Wolmark N, Drake JC, et al. The role of thymidylate synthase expression in prognosis and outcome of adjuvant chemotherapy in patients with rectal cancer. J Clin Oncol 1994;12:2640-7.
28. Yamachika T, Nakanishi H, Inada K, Tsukamoto T, Kato T, Fukushima M, et al. A new prognostic factor for collorectal carcinoma, thymidylate synthase, and its therapeutic significance. Cancer 1998;82:70-7.
29. Takenoue T, Nagawa H, Matsuda K, Fujii S, Nita ME, Hatano K, et al. Relation between thymidylate synthase expression and survival in colon carcinoma, and determination of appropriate application of 5-fluorouracil by immunohistochemical method. Ann Surg Oncol 2000;7:193-8.
30. Edler D, Glimelius B, Hallstrom M, Jakobsen A, Johnston PG, Magnusson I, et al. Thymidylate synthase expression in colorectal cancer: a prognostic and predictive marker of benefit from adjuvant fluorouracil-based chemotherapy. J Clin Oncol 2002;20:1721-8.
31. Beck A, Etienne MC, Cheradame S, Fischel JL, Formento P, Renee N, et al. A role for dihydropyrimidine dehydrogenase and thymidylate synthase in tumour sensitivity to fluorouracil. Eur J Cancer 1994;30A:1517-22.
32. Johnston PG, Drake JC, Trepel J, Allegra CJ. Immunological quantitation of thymidylate synthase using the monoclonal antibody TS 106 in 5-fluorouracil-sensitive and -resistant human cancer cell lines. Cancer Res 1992;52:4306-12.
33. van Triest B, Pinedo HM, van Hensbergen Y, Smid K, Telleman F, Schoenmakers PS, et al. Thymidylate synthase level as the main predictive parameter for sensitivity to 5-fluorouracil, but not for folate-based thymidylate synthase inhibitors, in 13 nonselected colon cancer cell lines. Clin Cancer Res 1999;5:643-54.
34. Ulrich CM, Yasui Y, Storb R, Schubert MM, Wagner JL, Bigler J, et al. Pharmacogenetics of methotrexate: toxicity among marrow transplantation patients varies with the methylenetetrahydrofolate reductase C677T polymorphism. Blood 2001;98:231-4.
35. Chiusolo P, Reddiconto G, Casorelli I, Laurenti L, Sora F, Mele L, et al. Preponderance of methylenetetrahydrofolate reductase C677T homozygosity among leukemia patients intolerant to methotrexate. Ann Oncol 2002; 13:1915-9.
36. Toffoli G, Russo A, Innocenti F, Corona G, Tumolo S, Sartor F, et al. Effect of methylenetetrahydrofolate reductase 677C->T polymorphism on toxicity and homocysteine plasma level after chronic methotrexate treatment of ovarian cancer patients. Int J Cancer 2003;103:294-9.
37. Toffoli G, Veronesi A, Boiocchi M, Crivellari D. MTHFR gene polymorphism and severe toxicity during adjuvant treatment of early breast cancer with cyclophosphamide, methotrexate, and fluorouracil (CMF). Ann Oncol 2000;11:373-4.
38. Cohen V, Panet-Raymond V, Sabbaghian N, Morin I, Batist G, Rozen R. Methylenetetrahydrofolate reductase polymorphism in advanced colorectal cancer: a novel genomic predictor of clinical response to fluoropyrimidine-based chemotherapy. Clin Cancer Res 2003;9:1611-5.
39. Nelen WL, Blom HJ, Thomas CM, Steegers EA, Boers GH, Eskes TK. Methylenetetrahydrofolate reductase polymorphism affects the change in homocysteine and folate concentrations resulting from low dose folic acid supplementation in women with unexplained recurrent miscarriages. J Nutr 1998;128:1336-41.
40. Molloy AM, Daly S, Mills JL, Kirke PN, Whitehead AS, Ramsbottom D, et al. Thermolabile variant of 5,10-methylenetetrahydrofolate reductase with low red-cell folates: implications for folate intake recommendations. Lancet 1997;349:1591-3.
41. Stern LL, Mason JB, Selhub J, Choi SW. 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 2000;9:849-53.
42. Lucock MD, Yates Z. A differential role for folate in developmental disorders, vascular disease and other clinical conditions: the importance of folate status and genotype. In: Massaro EJ, editor. Folate and human development. Totowa NJ: Human Press; 2001. p. 263-98.
43. Chen Z, Karaplis AC, Ackerman SL, Pogribny IP, Melnyk S, Lussier-Cacan S, et al. Mice deficient in methylenetetrahydrofolate reductase exhibit hyperhomocysteinemia and decreased methylation capacity, with neuropathology and aortic lipid deposition. Hum Mol Genet 2001;10:433-43.