Methylenetetrahydrofolate reductase (MTHFR) variants and fluorouracil-based treatments in colorectal cancer

Pharmacogenomics

Volumn 8, Issue 11, 2007, Pages 1561-1566

  Etienne Grimaldi, Marie Christine ^a   Francoual, Mireille ^a   Formento, Jean Louis ^a   Milano, Gérard ^a  

^a CENTRE ANTOINE LACASSAGNE   (France)

Author keywords

Fluoropyrimidine; Folates; Gene polymorphism; Methylenetetrahydrofolate reductase; Pharmacogenetics

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); ADENINE; BEVACIZUMAB; CETUXIMAB; CYTOSINE; FLUOROPYRIMIDINE DERIVATIVE; FLUOROURACIL; FOLINIC ACID; IRINOTECAN; OXALIPLATIN; TEGAFUR; THYMINE; URACIL;

ANTINEOPLASTIC ACTIVITY; CANCER SURVIVAL; CHEMOTHERAPY INDUCED EMESIS; CLINICAL TRIAL; COLORECTAL CANCER; CONCENTRATION RESPONSE; DIARRHEA; DRUG SENSITIVITY; ENZYME ACTIVITY; ENZYME INHIBITION; GENETIC VARIABILITY; GENOTYPE; HUMAN; MUCOSA INFLAMMATION; NAUSEA; NEUTROPENIA; PROTEIN SYNTHESIS INHIBITION; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM;

ANTIMETABOLITES, ANTINEOPLASTIC; BIOTRANSFORMATION; CLINICAL TRIALS AS TOPIC; COLORECTAL NEOPLASMS; FLUOROURACIL; HUMANS; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); TETRAHYDROFOLATES; VARIATION (GENETICS);

EID: 37349058652     PISSN: 14622416     EISSN: 17448042     Source Type: Journal    
DOI: 10.2217/14622416.8.11.1561     Document Type: Review

References (40)

1. Wils J, O'Dwyer P, Labianca R: Adjuvant treatment of colorectal cancer at the turn of the century: European and US perspectives. Ann. Oncol. 12, 13-22 (2001).
2. Danenberg PV, Danenberg KD: Effect of 5,10-methylenetetrahydrofolate on the dissociation of 5-fluoro-2′-deoxyuridylate from thymidilate synthase: evidence for an ordered mechanism. Biochemistry 17, 4018-4024 (1978).
3. Rustum YM, Trave F, Zakrzewski SF et al.: Biochemical and pharmacologic basis for potentiation of 5-fluorouracil action by leucovorin. NCI Monogr. 5, 165-170 (1987).
4. Chéradame S, Etienne MC, Chazal M et al.: Relevance of tumoral folylpolyglutamate synthetase and reduced folates for optimal 5-fluorouracil efficacy: experimental data. Eur. J. Cancer 33, 950-959 (1997).
5. Chéradame S, Etienne MC, Formento P et al: Tumoral-reduced folates and clinical resistance to fluorouracil-based treatment in head and neck cancer patients. J. Clin. Oncol. 15, 2604-2610 (1997).
6. Petrelli N, Herrera L, Rustum Y et al.: A prospective randomized trial of 5-fluorouracil versus 5-flurouracil and high-dose leucovorin versus 5-fluorouracil and methotrexate in previously untreated patients with advanced colorectal carcinoma. J. Clin. Oncol. 5, 1559-1565 (1987).
7. Poon MA, O'Connel MJ, Moertel CG et al.: Biochemical modulation of fluorouracil: evidence of significant improvement of survival and quality of life in patients with advanced colorectal carcinoma. J. Clin. Oncol. 7, 1407-1418 (1989).
8. Doroshow JH, Multhauf P, Leong L et al.: Prospective randomized comparison of fluorouracil versus fluorouracil and high-dose continuous infusion leucovorin calcium for the treatment of advanced measurable colorectal cancer in patients previously unexposed to chemotherapy. J. Clin. Oncol. 8, 491-501 (1990).
9. Piedbois P, Buyse M, Rustum Y. Modulation of fluorouracil by leucovorin in patients with advanced colorectal cancer: evidence in terms of response rate. J. Clin, Oncol. 10, 896-903 (1992).
10. Scott J, Weir D: Folate/vitamin B12 interrelationships. Essays Biochem. 28, 63-72 (1994).
11. Rozen R: Molecular genetics of methylenetetrahydrofolate reductase deficiency. J. Inherit. Metab. Dis. 19, 589-594 (1996).
12. Frosst F, Blom HJ, Milos R et al.: A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase, Nat. Genet. 10, 111-113 (1995).
13. Weisberg I, Tran P, Christensen B, Sibani S, Rozen R: A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreasiz enzyme activity. Mol. Genet. Metab. 64, 169-172 (1998).
14. Van der Put NM, Gabreels F, Stevens EM et al.: A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects? Am. J. Hum. Genet. 62, 1044-1051 (1998).
15. Ueland PM, Hustad S, Schneede J, Refsum H, Voliset SE: Biological and clinical implications of the MTHFRC677T polymorphism. Tread Pharmacol. Sci. 22, 195-201 (2001).
16. Wiemels J, Smith R, Taylor G et al.: ethylenetetrahydrofolate reductase (MTHFR) polymorphisms and risk of molecularly defined subtypes of childhood acute leukemia. Proc. Natl. Acad Sci. USA 98, 4004-4009 (2001).
17. Urano W, Taniguchi A, Yamanaka H et al.: Polymorphisms in the methylenetetrahydrofolate reductase gene were associated with both the efficacy and the toxicity of methotrexate used for the treatment of rheumatoid arthritis, as evidenced by single locus and haplotype analyses. Pharmacogenetics 12, 183-190 (2002).
18. Friso S, Choi SW, Girelli D 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. USA 99, 5606-5611 (2002).
19. Ulrich CM, Kampman E, Bigler J et al.: Colorectal adenomas and the C677T MTHFR polymorphism: evidence for gene - environment interaction? Cancer Epidemiol. Biomarkers Prev. 8, 659-668 (1999).
20. Ma J, Stampfer MJ, Giovannucci E et al.: Methylenetetrahydrofolate reductase polymorphism, dietary interactions, and risk of colorectal cancer. Cancer Res. 57, 1098-1002 (1997).
21. Hubner RA, Lubbe S, Chandler L Houlston RS: MTHFRC677T has differential influence on risk of MSI and MSS colorectal cancer. Hum. Mol. Genet. 16, 1072-1077 (2007).
22. Sohn KJ, Croxford R, Yates Z, Lucock M, Kim YN: Effect of the methylenetetrahydrofolate recluctase C677T polymorphism on chemosensitivity of colon and breast cancer cells to 5-fluorouracil and methotrexate. J. Natl Cancer Inst. 96, 134-144 (2004).
23. Etienne MC, Ilc K, Formento JL et al.: Thymidylate synthase and methylenetetrahydrofolate reductase gene polymorphisms: relationships with 5-fluorouracil sensitivity. Br. J. Cancer 90, 526-534 (2004).
24. Kawakami K, Omura K, Kanehira E, Watanabe G: Methylenetetrahydrofolate reductase polymorphism is associated with folate pool in gastrointestinal cancer tissue. Anticancer Res. 21, 285-289 (2001).
25. Kawakami K, Ruszkiewicz A, Bennett G, Moore J, Watanabe G, Iacopetta B: The folate pool in colorectal cancers is associated with DNA hypermethylation and with a polymorphism in methylenetetrahydrofolate reductase. Clin. Cancer Res. 9, 5860-5865 (2003).
26. Odin E, Wettergren Y, Carlsson G et al.: Expression arW clinical significance of methylenetetrahydrofolate reductase in patients with colorectal cancer. Clin. Colorectal Cancer 5, 344-349 (2006).
27. Cohen V, Panet-Raymond V, Sabbaghian N, Morin I, Batist G, Rozen R: Methylenetetrahydrofolate reductase polymorphism in advanced colorectal cancer: a novel genornic predictor of clinical response to fluoropyrimidine-based chemotherapy. Clin. Cancer Res. 9, 1611-1615 (2003).
28. Etlenne MC, Formento JL, Chazal M et al.: Methylenetetrahydrofolate reductase gene polymorphisms and response to fluorouracil-based treatment in advanced colorectal cancer patients. Pharmacogenetics 14, 785-792 (2004).
29. Terrazzinc, S, Agostini M, Pucciarelli S et al.: A haplotype of the methylenetetrahydrofolate reductase gene predicts poor tumor response in rectal cancer patients receiving preoperative chemoradiation. Pharmacagenet. Genomics 16, 817-824 (2006).
30. Marcuello, E, Altes A, Menoyo A, Rio ED, Baiget M: Methylenetetrahydrofolate reductase gene polymorphisms: genomic predictors of clinical response to fluoropyrimidine-based chemotherapy?. Cancer Chemother. Pharmacol. 57, 835-840 (2006).
31. Ruzzo A, Graziano F, Loupakis F et al.: Pharmacogenetic profiling in patients with advanced colorectal cancer treated with first-line FOLFOX-4 chemotherapy. J. Clin. Oncol. 25, 1247-1254 (2007).
32. Suh KW, Kim JH, Kim DY et al.: Which gene is a dominant predictor of response during FOLFOX chemotherapy for the treatment of metastatic colorectal cancer, the MTHFR or XRCC1 gene? Ann. Surg. Oncol. 13, 1379-1385 (2006).
33. Wisotzkey JD, Toman J, Bell T, Monk JS, Jones D: MTHFR (C677T) polymorphisms and stage III colon cancer: response to therapy. Mol. Diagn. 4, 95-99 (1999).
34. 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. 9, 849-853 (2000).
35. Ruzzo A, Graziano F, Loupakis F et al.: Pharmacogenetic profiling in patients with advanced colorectal cancer treated with first-line FOLFIRI chemotherapy Pharmacogenomics J. (2007) (Epub ahead of print).
36. Lu JW, Gao CM, Wu JZ, Sun XF, Wang L, Feng JF: Relationship of methylenetetrahydrofolate reductase C677T polymorphism and chemosensitivity to 5-fluorouracil in gastric carcinoma. Clin. J. Cancer Res. 23, 958-962 (2004).
37. Veronese ML, Stevenson JP, Sun W et al.: Phase I trial of UFT/ leucovorin and irinotecan in patients with advanced cancer. Eur. J. Cancer 40, 508-514 (2004).
38. Danenberg PV: Pharmacogenomics of thymidylate synthase in cancer treatment. Front. Biosci. 9, 2484-2494 (2004).
39. Mishra PJ, Humeniuk R, Mishra PJ et al.: A miR-24 microRNA binding-site polymorphism in dihydrofolate reductase gene leads to methotrexate resistance. Proc. Natl Acad. Sci. USA 104, 13513-13518 (2007).
40. Ott N, Geddert H, Sarbia M: Polymorphisms in methionine synthase (A2756G) and cystathionine β-synthase (844ins68) and susceptibility to carcinomas of the upper gastrointestinal tract. J. Cancer Res. Clin. Oncol. 29, (2007) DOI: 10.1007/s00432-007-0301-2 (Epub ahead of print).