Functional polymorphisms of folate metabolism and response to chemotherapy for colorectal cancer, a systematic review and meta-analysis

Pharmacogenetics and Genomics

Volumn 22, Issue 4, 2012, Pages 290-304

  Jennings, Barbara Anne ^a   Kwok, Chun Shing ^a   Willis, Gavin ^b   Matthews, Victoria ^b   Wawruch, Pawel ^b   Loke, Yoon Kong ^a  

^a UNIVERSITY OF EAST ANGLIA   (United Kingdom)

^b NORFOLK AND NORWICH UNIVERSITY HOSPITAL   (United Kingdom)

Author keywords

5 fluorouracil; colorectal cancer; genotype; MTHFR; TYMS

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); CAPECITABINE; CARMOFUR; DIHYDROFOLATE REDUCTASE; DOXIFLURIDINE; FLUOROURACIL; IRINOTECAN; OXALIPLATIN; RALTITREXED; TEGAFUR; THYMIDYLATE SYNTHASE;

5' UNTRANSLATED REGION; ARTICLE; CANCER CHEMOTHERAPY; CANCER PATIENT; CANCER RECURRENCE; CANCER RELAPSE; CANCER SURVIVAL; CLINICAL TRIAL (TOPIC); COLORECTAL CANCER; DATA SYNTHESIS; DIARRHEA; ENZYME POLYMORPHISM; FOLATE METABOLISM; GENETIC ANALYSIS; GENETIC PREDISPOSITION; GENOTYPE; HUMAN; INFORMATION PROCESSING; META ANALYSIS; NEUTROPENIA; PRIORITY JOURNAL; PROTEIN EXPRESSION; RANDOMIZED CONTROLLED TRIAL (TOPIC); RISK FACTOR; STATISTICAL SIGNIFICANCE; STUDY DESIGN; SYSTEMATIC REVIEW; TREATMENT OUTCOME; TREATMENT RESPONSE;

EID: 84859105520     PISSN: 17446872     EISSN: 17446880     Source Type: Journal    
DOI: 10.1097/FPC.0b013e328351875d     Document Type: Article

References (62)

1. 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; 10:111-113.
2. Weisberg I, Tran P, Christensen B, Sibani S, Rozen R. A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity. Mol Genet Metab 1998; 64:169-172. (Pubitemid 28453294)
3. Horie N, Aiba H, Oguro K, Hojo H, Takeishi K. Functional analysis and DNA polymorphism of the tandemly repeated sequences in the 5′-terminal regulatory region of the human gene for thymidylate synthase. Cell Struct Funct 1995; 20:191-197.
4. Kaneda S, Takeishi K, Ayusawa D, Shimizu K, Seno T, Altman S. Role intranslation of a triple tandemly repeated sequence in the 5′- untranslated region of human thymidylate synthase mRNA. Nucleic Acids Res 1987; 15:1259-1270. (Pubitemid 17012904)
5. Kawakami K, Salonga D, Park JM, Danenberg KD, Uetake H, Brabender J, et al. Different lengths of apolymorphic repeat sequence in the thymidylate synthase gene affect translational efficiency but not its gene expression. Clin Cancer Res 2001; 7:4096-4101. (Pubitemid 34044633)
6. Mandola MV, Stoehlmacher J, Muller-Weeks S, Cesarone G, Yu MC, Lenz H-J, Ladner RD. A novel single nucleotide polymorphism within the 5′ tandem repeat polymorphism of the thymidylate synthase gene abolishes USF-1 binding and alters transcriptional activity. Cancer Res 2003; 63:2898-2904. (Pubitemid 36667162)
7. Gellekink H, Blom HJ, van der Linden IJM, den Heijer M. Molecular genetic analysis ofthe human dihydrofolate reductase gene: relation with plasma total homocysteine, serum and red blood cell folate levels. Eur J Hum Genet 2007; 15:103-109. (Pubitemid 44921673)
8. Johnson WG, Scholl TO, Spychala JR, Buyske S, Stenroos ES, Chen X. Common dihydrofolate reductase 19-base pair deletion allele: a novel risk factor for preterm delivery. Am J Clin Nutr 2005; 81:664-668.
9. Johnson WG, Stenroos ES, Spychala JR, Chatkupt S, Ming SX, Buyske S. New 19bp deletion polymorphism in intron-1 of dihydrofolate reductase (DHFR): a risk factor for spina bifida acting in mothers during pregnancy? Am J Med Genet 2004; 124A:339-345. (Pubitemid 38141374)
10. Trinh BN, Ong C-N, Coetzee GA, Yu MC, Laird PW. Thymidylate synthase: anovel genetic determinant of plasma homocysteine and folate levels. Hum Genet 2002; 111:299-302. (Pubitemid 36075054)
11. Park DJ, Stoehlmacher J, Zhang W, Tsao-Wei D, Groshen S, Lenz H-J. Thymidylate synthase gene polymorphism predicts response to capecitabine in advanced colorectal cancer. Int J Colorectal Dis 2002; 17:46-49. (Pubitemid 41398991)
12. Salgado J, Zabalegui N, Gil C, Monreal I, Rodriguez J, Garcia-Foncillas J. Polymorphisms inthe thymidylate synthase and dihydropyrimidine dehydrogenase genes predict response and toxicity to capecitabine-raltitrexed in colorectal cancer. Oncol Rep 2007; 17:325-328.
13. Capitain O, Boisdron-Celle M, Poirier AL, Abadie-Lacourtoisie S, Morel A, Gamelin E. The influence offluorouracil outcome parameters on tolerance and efficacy in patients with advanced colorectal cancer. Pharmacogenomics J 2008; 8:256-267. (Pubitemid 352038305)
14. Marsh S, McKay JA, Cassidy J, McLeod HL. Polymorphism inthe thymidylate synthase promoter enhancer region in colorectal cancer. Int J Oncol 2001; 19:383-386.
15. Iacopetta B, Grieu F, Joseph D, Elsaleh H. A polymorphism inthe enhancer region of the thymidylate synthase promoter influences the survival of colorectal cancer patients treated with 5-fluorouracil. Br J Cancer 2001; 85:827-830. (Pubitemid 33010548)
16. Kawakami K, Watanabe G. Identification and functional analysis of single nucleotide polymorphism in the tandem repeat sequence of thymidylate synthase gene. Cancer Res 2003; 63:6004-6007. (Pubitemid 37187503)
17. Lecomte T, Ferraz J-M, Zinzindohoue F, Loriot M-A, Tregouet D-A, Landi B, et al. Thymidylate synthase gene polymorphism predicts toxicity in colorectal cancer patients receiving 5-fluorouracil-based chemotherapy. Clin Cancer Res 2004; 10:5880-5888. (Pubitemid 39180969)
18. Stoehlmacher J, Park DJ, Zhang W, Yang D, Groshen S, Zahedy S, Lenz HJ. A multivariate analysis ofgenomic polymorphisms: prediction of clinical outcome to 5-FU/oxaliplatin combination chemotherapy in refractory colorectal cancer. Br J Cancer 2004; 91:344-354. (Pubitemid 39037082)
19. Fernandez-Contreras ME, Sanchez-Prudencio S, Sanchez-Hernandez JJ, Garcia de Paredes ML, Gisbert JP, Roda-Navarro P, Gamallo C. Thymidylate synthase expression pattern, expression level and single nucleotide polymorphism are predictors for disease-free survival in patients of colorectal cancer treated with 5-fluorouracil. Int J Oncol 2006; 28:1303-1310.
20. Hitre E, Budai B, Adleff V, Czegledi F, Horvath Z, Gyergyay F, et al. Influence ofthymidylate synthase gene polymorphisms on the survival of colorectal cancer patients receiving adjuvant 5-fluorouracil. Pharmacogenet Genomics 2005; 15:723-730. (Pubitemid 41345324)
21. Prall F, Ostwald C, Schiffmann L, Barten M. Do thymidylate synthase gene promoter polymorphism and the C/G single nucleotide polymorphism predict effectiveness of adjuvant 5-fluorouracil-based chemotherapy in stage III colonic adenocarcinoma? Oncol Rep 2007; 18:203-209.
22. Ruzzo A, Graziano F, Loupakis F, Rulli E, Canestrari E, Santini D, et al. Pharmacogenetic profiling inpatients with advanced colorectal cancer treated with first-line FOLFOX-4 chemotherapy. J Clin Oncol 2007; 25:1247-1254. (Pubitemid 46640571)
23. Ruzzo A, Graziano F, Loupakis F, Santini D, Catalano V, Bisonni R, et al. Pharmacogenetic profiling inpatients with advanced colorectal cancer treated with first-line FOLFIRI chemotherapy. Pharmacogenomics J 2008; 8:278-288. (Pubitemid 352038307)
24. Huang M-Y, Fang W-Y, Lee S-C, Cheng T-L, Wang J-Y, Lin S-R. ERCC2 2251A >C genetic polymorphism was highly correlated with early relapse in high-risk stage II and stage III colorectal cancer patients: a preliminary study. BMC Cancer 2008; 8:50.
25. Lurje G, Zhang W, Yang D, Groshen S, Hendifar AE, Husain H, et al. Thymidylate synthase haplotype isassociated with tumor recurrence in stage II and stage III colon cancer. Pharmacogenet Genomics 2008; 18:161-168.
26. Sharma R, Hoskins JM, Rivory LP, Zucknick M, London R, Liddle C, Clarke SJ. Thymidylate synthase and methylenetetrahydrofolate reductase gene polymorphisms and toxicity to capecitabine in advanced colorectal cancer patients. Clin Cancer Res 2008; 14:817-825. (Pubitemid 351231165)
27. Gusella M, Frigo AC, Bolzonella C, Marinelli R, Barile C, Bononi A, et al. Predictors ofsurvival and toxicity in patients on adjuvant therapy with 5-fluorouracil for colorectal cancer. Br J Cancer 2009; 100:1549-1557.
28. Spindler KLG, Andersen RF, Jensen LH, Ploen J, Jakobsen A. EGF61A >G polymorphism aspredictive marker of clinical outcome to first-line capecitabine and oxaliplatin in metastatic colorectal cancer. Ann Oncol 2010; 21:535-539.
29. Cohen V, Panet-Raymond V, Sabbaghian N, Morin I, Batist G, Rozen R. Methylenetetrahydrofolate reductase polymorphism inadvanced colorectal cancer: a novel genomic predictor of clinical response to fluoropyrimidine-based chemotherapy. Clin Cancer Res 2003; 9:1611-1615. (Pubitemid 36554583)
30. Jakobsen A, Nielsen JN, Gyldenkerne N, Lindeberg J. Thymidylate synthase and methylenetetrahydrofolate reductase gene polymorphism in normal tissue as predictors of fluorouracil sensitivity. J Clin Oncol 2005; 23:1365-1369.
31. Terrazzino S, Agostini M, Pucciarelli S, Pasetto LM, Friso ML, Ambrosi A, et al. A haplotype ofthe methylenetetrahydrofolate reductase gene predicts poor tumor response in rectal cancer patients receiving preoperative chemoradiation. Pharmacogenet Genomics 2006; 16:817-824. (Pubitemid 44632296)
32. Derwinger K, Wettergren Y, Odin E, Carlsson G, Gustavsson B. A study ofthe MTHFR gene polymorphism C677T in colorectal cancer. Clin Colorectal Cancer 2009; 8:43-48.
33. Etienne M-C, Formento J-L, Chazal M, Francoual M, Magne N, Formento P, et al. Methylenetetrahydrofolate reductase gene polymorphisms and response to fluorouracil-based treatment in advanced colorectal cancer patients. Pharmacogenetics 2004; 14:785-792. (Pubitemid 40054334)
34. 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 2006; 57:835-840.
35. Gusella M, Padrini R. G>C SNP ofthymidylate synthase with respect to colorectal cancer. Pharmacogenomics 2007; 8:985-996. (Pubitemid 47423688)
36. Suh KW, Kim JH, Kim DY, Kim YB, Lee C, Choi S.Which gene is adominant predictor of response during FOLFOX chemotherapy for the treatment of metastatic colorectal cancer, the MTHFR or XRCC1 gene? Ann Surg Oncol 2006; 13:1379-1385.
37. Afzal S, Jensen SA, Vainer B, Vogel U, Matsen JP, Sorensen JB, et al. MTHFR polymorphisms and 5-FU-based adjuvant chemotherapy in colorectal cancer. Ann Oncol 2009; 20:1660-1666.
38. Chua W, Goldstein D, Lee CK, Dhillon H, Michael M, Mitchell P, et al. Molecular markers ofresponse and toxicity to FOLFOX chemotherapy in metastatic colorectal cancer. Br J Cancer 2009; 101:998-1004.
39. Fernandez-Peralta AM, Daimiel L, Nejda N, Iglesias D, Medina Arana V, Gonzalez-Aguilera JJ. Association ofpolymorphisms MTHFR C677T and A1298C with risk of colorectal cancer, genetic and epigenetic characteristic of tumors, and response to chemotherapy. Int J Colorectal Dis 2010; 25:141-151.
40. Graziano F, Ruzzo A, Loupakis F, Santini D, Catalano V, Canestrari E, et al. Liver-only metastatic colorectal cancer patients and thymidylate synthase polymorphisms for predicting response to 5-fluorouracil-based chemotherapy. Br J Cancer 2008; 99:716-721.
41. Popat S, Matakidou A, Houlston RS. Thymidylate synthase expression and prognosis in colorectal cancer: a systematic review and meta-analysis. J Clin Oncol 2004; 22:529-536. (Pubitemid 41079782)
42. Zintzaras E, Ziogas DC, Kitsios GD, Papathanasiou AA, Lau J, Raman G. MTHFR gene polymorphisms and response to chemotherapy in colorectal cancer: a meta-analysis. Pharmacogenomics 2009; 10:1285-1294.
43. Biobase. Human genome mutation database. Available at: http://www.biobase-international.com/product/hgmd.
44. Genetic Association Database. Available at: http://geneticassociationdb. nih.gov/.
45. Ioannidis JP, Trikalinos TA. The appropriateness ofasymmetry tests for publication bias in meta-analyses: a large survey. CMAJ 2007; 176:1091-1096. (Pubitemid 46649731)
46. Higgins JPT, Thompson SG, Deeks JJ, Altman DG. Measuring inconsistency inmeta-analyses. BMJ 2003; 327:557-560.
47. Davies HT, Crombie IK, Tavakoli M. When can odds ratios mislead? BMJ 1998; 316:989-991. (Pubitemid 28135151)
48. Ichikawa W, Takahashi T, Suto K, Sasaki Y, Hirayama R. Orotate phosphoribosyltransferase gene polymorphism predicts toxicity in patients treated with bolus 5-fluorouracil regimen. Clin Cancer Res 2006; 12:3928-3934. (Pubitemid 44078077)
49. Fernandez-Contreras ME, Sanchez-Hernandez JJ, Guijarro M, Gisbert JP, Rivas N, Garcia de Paredes ML, et al. Influence ofthymidylate synthase DNA polymorphisms and gender on the clinical evolution of patients with advanced colorectal cancer. Oncol Rep 2009; 23:1393-1400.
50. Pullarkat ST, Stoehlmacher J, Ghaderi V, Xiong YP, Ingles SA, Sherrod A, et al. Thymidylate synthase gene polymorphism determines response and toxicity of 5-FU chemotherapy. Pharmacogenomics J 2001; 1:65-70. (Pubitemid 33757985)
51. Braun MS, Richman SD, Thompson L, Daly CL, Meade AM, Adlard JW, et al. Association ofmolecular markers with toxicity outcomes in a randomized trial of chemotherapy for advanced colorectal cancer: the FOCUS trial. J Clin Oncol 2009; 27:5519-5528.
52. Cho H-J, Park YS, Kang WK, Kim J-W, Lee S-Y. Thymidylate synthase (TYMS) and dihydropyrimidine dehydrogenase (DPYD) polymorphisms in the Korean population for prediction of 5-fluorouracil-associated toxicity. Ther Drug Monit 2007; 29:190-196. (Pubitemid 46716185)
53. Cui YH, Liu TS, Zhuang RY, Gao HJ, Li H. Polymorphism ofthymidylate synthase gene and chemosensitivity of 5-fluorouracil regimen in metastatic gastrointestinal cancer. J Dig Dis 2009; 10:118-123.
54. Etienne-Grimaldi M-C, Formento J-L, Francoual M, Francois E, Formento P, Renee N, et al. K-Ras mutations and treatment outcome in colorectal cancer patients receiving exclusive fluoropyrimidine therapy. Clin Cancer Res 2008; 14:4830-4835.
55. Gosens MJ, Moerland E, Lemmens VP, Rutten HT, Tan-Go I, van den Brule AJ. Thymidylate synthase genotyping ismore predictive for therapy response than immunohistochemistry in patients with colon cancer. Int J Cancer 2008; 123:1941-1949.
56. Wisotzkey JD, Toman J, Bell T, Monk JS, Jones D. MTHFR (C677T) polymorphisms and stage III colon cancer: response to therapy. Mol Diagn 1999; 4:95-99. (Pubitemid 29326129)
57. Zhang W, Press OA, Haiman CA, Yang DY, Gordon MA, Fazzone W, et al. Association ofmethylenetetrahydrofolate reductase gene polymorphisms and sex-specific survival in patients with metastatic colon cancer. J Clin Oncol 2007; 25:3726-3731. (Pubitemid 47372614)
58. Yawata A, Kim SR, Miyajima A, Kubo T, Ishida S, Saito Y, et al. Polymorphic tandem repeat sequences of the thymidylate synthase gene correlates with cellular-based sensitivity to fluoropyrimidine antitumor agents. Cancer Chemother Pharmacol 2005; 56:465-472. (Pubitemid 41549147)
59. de Bock CE, Garg MB, Scott N, Sakoff JA, Scorgie FE, Ackland SP, Lincz LF. Association ofthymidylate synthase enhancer region polymorphisms with thymidylate synthase activity in vivo. Pharmacogenomics J 2011; 11:307-314.
60. NCBI. dbSNP short genetic variations database. Available at: http://www.ncbi.nlm.nih.gov/projects/SNP/.
61. Ioannidis JP, Patsopoulos NA, Rothstein HR. Reasons orexcuses for avoiding meta-analysis in forest plots. BMJ 2008; 336:1413-1415.
62. Golder S, Loke YK, Bland M. Meta-analyses ofadverse effects data derived from randomised controlled trials as compared to observational studies: methodological overview. PLoS Med 2011; 8:e1001026.