Impact of the MTHFR C677T polymorphism on colorectal cancer in a population with low genetic variability

International Journal of Colorectal Disease

Volumn 28, Issue 9, 2013, Pages 1187-1193

  Delgado Plasencia, Luciano ^a   Medina Arana, Vicente ^a   Bravo Gutiérrez, Alberto ^a   Pérez Palma, Julián ^a   Álvarez Argüelles, Hugo ^a   Salido Ruiz, Eduardo ^a   Fernández Peralta, Antonia M ^b   González Aguilera, Juan J ^b  

^a HOSPITAL UNIVERSITARIO DE CANARIAS   (Spain)

^b UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

Author keywords

5 FU based chemotherapy; Colorectal cancer risk; MTHFR C677T polymorphism; Survival

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); FLUOROURACIL; FOLIC ACID; GENOMIC DNA;

ADULT; AGED; ARTICLE; CANCER COMBINATION CHEMOTHERAPY; CANCER PREVENTION; CANCER PROGNOSIS; CANCER SURVIVAL; CLINICAL ARTICLE; COLORECTAL CANCER; COMPARATIVE STUDY; CONTROLLED STUDY; DIETARY INTAKE; DNA POLYMORPHISM; FEMALE; GENE FREQUENCY; GENE SEQUENCE; GENETIC DRIFT; GENETIC LINKAGE; GENETIC VARIABILITY; GENOTYPE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; MALE; METHYLENETETRAHYDROFOLATE REDUCTASE GENE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RETROSPECTIVE STUDY; SPAIN; SURVIVAL RATE;

AMINO ACID SUBSTITUTION; COLORECTAL NEOPLASMS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; KAPLAN-MEIER ESTIMATE; MALE; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS;

EID: 84883307743     PISSN: 01791958     EISSN: 14321262     Source Type: Journal    
DOI: 10.1007/s00384-013-1644-6     Document Type: Article

References (48)

1. Jemal A, Thun MJ, Ries LA et al (2008) Annual report to the nation on the status of cancer, 1975-2005, featuring trends in lung cancer, tobacco use, and tobacco control. J Natl Cancer Inst 100:1672-1694
2. Ferlay J, Autier P, Boniol M et al (2007) Estimates of cancer incidence and mortality in Europe in 2006. Ann Oncol 18:581-592
3. Ferlay J, Bray F, Pisani P, et al. (2001) Globocan 2000: Cancer incidence, mortality, and prevalence worldwide. Version 1.0. IARC Cancer Base N°.5. Lyon: IARC Press.
4. Shannon B, Gnanasampanthan S, Beilby J et al (2002) A polymorphism in the methylenetetrahydrofolate reductase gene predisposes to colorectal cancers with microsatellite instability. Gut 50:520-524
5. Van Rijnsoever M, Grieu F, Elsaleh H et al (2002) Characterization of colorectal cancers showing hypermethylation at multiple CpG islands. Gut 51:797-802
6. Stern LL, Mason JB, Selhub J et al (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 Biomark Prev 9:849-853
7. Shannon BA, Iacopetta BJ (2001) Methylation of the hMLH1, p16, and MDR1 genes in colorectal carcinoma: associations with clinicopathological features. Cancer Lett 167:91-97
8. Kang SS, Wong PW, Zhou JM et al (1988) Thermolabile methylenetetrahydrofolate reductase in patients with coronary artery disease. Metabolism 37:611-613
9. Bagley PJ, Selhub J (1998) A common mutation in the methylenetetrahydrofolate reductase gene is associated with an accumulation of formylated tetrahydrofolates in red blood cells. Proc Natl Acad Sci USA 95:13217-13220
10. Frosst P, Blom HJ, Milos R et al (1995) A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet 10:111-113
11. Botto LD, Yang Q (2000) 5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: a HuGE review. Am J Epidemiol 151:862-877
12. Van der Put NM, Steegers-Theunissen RP, Frosst P et al (1995) Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida. Lancet 346:1070-1071
13. Van der Put NM, Gabreëls F, Stevens EM, et al (1998) A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects? Am J Hum Genet 62:1044-1051
14. Weisberg IS, Jacques PF, Selhub J et al (2001) The 1298A- > C polymorphism in methylenetetrahydrofolate reductase (MTHFR): in vitro expression and association with homocysteine. Atherosclerosis 156:409-415
15. Wilcken B, Bamforth F, Li Z et al (2003) Geographical and ethnic variation of the 677C > T allele of 5,10 methylenetetrahydrofolate reductase (MTHFR): findings from over 7000 newborns from 16 areas worldwide. J Med Genet 40:619-625
16. Koch MC, Stegmann K, Ziegler A et al (1998) Evaluation of the MTHFR C677T allele and the MTHFR gene locus in a German spina bifida population. Eur J Pediatr 157:487-492
17. Cattaneo M, Tsai MY, Bucciarelli P et al (1997) A common mutation in the methylenetetrahydrofolate reductase gene (C677T) increases the risk for deep-vein thrombosis in patients with mutant factor V (factor V:Q506). Arterioscler Thromb Vasc Biol 17:1662-1666
18. Medina-Arana V, Barrios Y, Fernández-Peralta A et al (2006) New founding mutation in MSH2 associated with hereditary nonpolyposis colorectal cancer syndrome on the Island of Tenerife. Cancer Lett 244:268-273
19. Chen J, Giovannucci E, Kelsey K et al (1996) A methylenetetrahydrofolate reductase polymorphism and the risk of colorectal cancer. Cancer Res 56:4862-4864
20. de la Vega MJ, Santolaria F, González-Reimers E et al (2001) High prevalence of hyperhomocysteinemia in chronic alcoholism: the importance of the thermolabile form of the enzyme methylenetetrahydrofolate reductase (MTHFR). Alcohol 25(2):59-67
21. Sharp L, Little J (2004) Polymorphisms in genes involved in folate metabolism and colorectal neoplasia: a HuGE review. Am J Epidemiol 159:423-443
22. Choi SW, Mason JB (2000) Folate and carcinogenesis: an integrated scheme. J Nutr 130:129-132
23. Calvaresi E, Bryan J (2001) B vitamins, cognition, and aging: a review. J Gerontol B Psychol Sci Soc Sci 56:327-339
24. Blount BC, Mack MM, Wehr CM et al (1997) Folate deficiency causes uracil misincorporation into human DNA and chromosome breakage: implications for cancer and neuronal damage. Proc Natl Acad Sci USA 94:3290-3295
25. Duthie SJ (1999) Folic acid deficiency and cancer: mechanisms of DNA instability. Br Med Bull 55:578-592
26. Fernández-Peralta AM, Daimiel L, Nejda N et al (2009) Association of polymorphisms MTHFR C677T and A1298C with risk of colorectal cancer, genetic and epigenetic characteristic of tumors, and response to chemotherapy. Int J Colorectal Dis 25:141-151
27. Balley LB, Gregory JF (1999) Polymorphism of methylenetetrahydrofolate reductase and other enzymes: metabolic significance, risk and impact on folate requirement. J Nutr 129:919-922
28. Slattery ML, Potter JD, Samowitz W et al (1999) Methylenetetrahydrofolate reductase, diet, and risk of colon cancer. Cancer Epidemiol Biomark Prev 8:513-518
29. Le Marchand L, Wilkens LR, Kolonel LN, et al (2005) The MTHFR C677T polymorphism and colorectal cancer: the multiethnic cohort study. Cancer Epidemiol Biomarkers Prev 14:1198-1203
30. Keku T, Millikan R, Worley K, et al (2002) 5,10-Methylenetetrahydrofolate reductase codon 677 and 1298 polymorphisms and colon cancer in African Americans and whites. Cancer Epidemiol Biomarkers Prev 11:1611-1621
31. Ma J, Stampfer MJ, Giovannucci E et al (1997) Methylenetetrahydrofolate reductase polymorphism, dietary interactions, and risk of colorectal cancer. Cancer Res 57:1098-1102
32. Sachse C, Smith G, Wilkie MJ et al (2002) A pharmacogenetic study to investigate the role of dietary carcinogens in the etiology of colorectal cancer. Carcinogenesis 23:1839-1849
33. Plaschke J, Schwanebeck U, Pistorius S et al (2003) Methylenetetrahydrofolate reductase polymorphisms and risk of sporadic and hereditary colorectal cancer with or without microsatellite instability. Cancer Lett 191:179-185
34. Lima CS, Nascimento H, Bonadia LC et al (2007) Polymorphisms in methylenetetrahydrofolate reductase gene (MTHFR) and the age of onset of sporadic colorectal adenocarcinoma. Int J Colorectal Dis 22:757-763
35. Czernichow S, Noisette N, Blacher J et al (2005) Case for folic acid and vitamin B12 fortification in Europe. Semin Vasc Med 5:156-162
36. Curtin K, Bigler J, Slattery ML et al (2004) MTHFR C677T and A1298C polymorphisms: diet, estrogen, and risk of colon cancer. Cancer Epidemiol Biomark Prev 13:285-292
37. Longley DB, Harkin DP, Johnston PG (2003) 5-Fluorouracil: mechanisms of action and clinical strategies. Nat Rev Cancer 3:330-338
38. Pinedo HM, Peters GF (1988) Fluorouracil: biochemistry and pharmacology. J Clin Oncol 6,1653-1664
39. Iacopetta B (2006) Methyl-group metabolism and the response of CRC to 5-fluorouracil. Crit Rev Oncog 12:115-126
40. Kuhn JG (2001) Fluorouracil and the new oral fluorinated pyrimidines. Ann Pharmacother 35:217-227
41. Scott J, Weir D (1994) Folate/vitamin B12 inter-relationship. Essays Biochem 28:63-72
42. Sarbia M, Stahl M, von Weyhern C et al (2006) The prognostic significance of genetic polymorphisms (methylenetetrahydrofolate reductase C677T, methionine synthase A2756G, thymidilate synthase tandem repeat polymorphism) in multimodally treated oesophageal squamous cell carcinoma. Br J Cancer 94:203-207
43. Cohen V, Panet-Raymond V, Sabbaghian N et al (2003) Methylenetetrahydrofolate reductase polymorphism in advanced colorectal cancer: a novel genomic predictor of clinical response to fluoropyrimidine-based chemotherapy. Clin Cancer Res 9:1611-1615
44. Derwinger K, Wettergren Y, Odin E et al (2009) A study of the MTHFR gene polymorphism C677T in colorectal cancer. Clin Colorectal Cancer 8:43-48
45. Sobrero AF, Aschele C, Bertino JR (1997) Fluorouracil in colorectal cancer - a tale of two drugs: implications for biochemical modulation. J Clin Oncol 15:368-381
46. Huang ZH, Hua D, Li LH (2009) The polymorphisms of TS and MTHFR predict survival of gastric cancer patients treated with fluorouracil-based adjuvant chemotherapy in Chinese population. Cancer Chemother Pharmacol 63:911-918
47. Kawakami K, Omura K, Kanehira E et al (2001) Methylenetetrahydrofolate reductase polymorphism is associated with folate pool in gastrointestinal cancer tissue. Anticancer Res 21:285-289
48. Zintzaras E, Ziogas DC, Kitsios GD et al (2009) MTHFR gene polymorphisms and response to chemotherapy in colorectal cancer: a meta-analysis. Pharmacogenomics 10:1285-1294