메뉴 건너뛰기




Volumn 16, Issue 9, 2007, Pages 1753-1759

Influence of methylenetetrahydrofolate reductase gene polymorphisms C677T and A1298C on age-associated risk for colorectal cancer in a Caucasian Lynch syndrome population

Author keywords

[No Author keywords available]

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2);

EID: 34548863628     PISSN: 10559965     EISSN: None     Source Type: Journal    
DOI: 10.1158/1055-9965.EPI-07-0384     Document Type: Article
Times cited : (19)

References (50)
  • 2
    • 24144493180 scopus 로고    scopus 로고
    • Evolution of the nomenclature for the hereditary colorectal cancer syndromes
    • Boland CR. Evolution of the nomenclature for the hereditary colorectal cancer syndromes. Fam Cancer 2005;4:211-8.
    • (2005) Fam Cancer , vol.4 , pp. 211-218
    • Boland, C.R.1
  • 3
    • 33749067855 scopus 로고    scopus 로고
    • Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome: A systematic review
    • Lindor NM, Petersen GM, Hadley DW, et al. Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome: a systematic review. JAMA 2006;296:1507-17.
    • (2006) JAMA , vol.296 , pp. 1507-1517
    • Lindor, N.M.1    Petersen, G.M.2    Hadley, D.W.3
  • 4
    • 0026088343 scopus 로고
    • Tumor spectrum in cancer family syndrome (hereditary nonpolyposis colorectal cancer)
    • Mecklin JP, Jarvinen HJ. Tumor spectrum in cancer family syndrome (hereditary nonpolyposis colorectal cancer). Cancer 1991;68:1109-12.
    • (1991) Cancer , vol.68 , pp. 1109-1112
    • Mecklin, J.P.1    Jarvinen, H.J.2
  • 5
    • 0035054387 scopus 로고    scopus 로고
    • Deficient DNA mismatch repair: A common etiologic factor for colon cancer
    • Peltomaki P. Deficient DNA mismatch repair: a common etiologic factor for colon cancer. Hum Mol Genet 2001;10:735-40.
    • (2001) Hum Mol Genet , vol.10 , pp. 735-740
    • Peltomaki, P.1
  • 6
    • 0032555020 scopus 로고    scopus 로고
    • Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease
    • Aaltonen LA, Salovaara R, Kristo P, et al. Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease. N Engl J Med 1998;338:1481-7.
    • (1998) N Engl J Med , vol.338 , pp. 1481-1487
    • Aaltonen, L.A.1    Salovaara, R.2    Kristo, P.3
  • 7
    • 0034799747 scopus 로고    scopus 로고
    • The colon cancer burden of genetically defined hereditary nonpolyposis colon cancer
    • Samowitz WS, Curtin K, Lin HH, et al. The colon cancer burden of genetically defined hereditary nonpolyposis colon cancer. Gastroenterology 2001;121:830-8.
    • (2001) Gastroenterology , vol.121 , pp. 830-838
    • Samowitz, W.S.1    Curtin, K.2    Lin, H.H.3
  • 8
    • 0036328028 scopus 로고    scopus 로고
    • Folate status: Effects on pathways of colorectal carcinogenesis
    • Choi SW, Mason JB. Folate status: effects on pathways of colorectal carcinogenesis. J Nutr 2002;132:2413-8S.
    • (2002) J Nutr , vol.132
    • Choi, S.W.1    Mason, J.B.2
  • 9
    • 0030979178 scopus 로고    scopus 로고
    • Folate deficiency causes uracil misincorporation into human DNA and chromosome breakage: Implications for cancer and neuronal damage
    • Blount BC, Mack MM, Wehr CM, et al. Folate deficiency causes uracil misincorporation into human DNA and chromosome breakage: implications for cancer and neuronal damage. Proc Natl Acad Sci USA 1997;94:3290-5.
    • (1997) Proc Natl Acad Sci USA , vol.94 , pp. 3290-3295
    • Blount, B.C.1    Mack, M.M.2    Wehr, C.M.3
  • 10
    • 0024514647 scopus 로고
    • Allelotype of colorectal carcinomas
    • Vogelstein B, Fearon ER, Kern SE, et al. Allelotype of colorectal carcinomas. Science 1989;244:207-11.
    • (1989) Science , vol.244 , pp. 207-211
    • Vogelstein, B.1    Fearon, E.R.2    Kern, S.E.3
  • 11
    • 0029049553 scopus 로고
    • A candidate genetic risk factor for vascular disease: A common mutation in methylenetetrahydrofolate reductase
    • Frosst P, Blom HJ, Milos R, et al. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet 1995;10:111-3.
    • (1995) Nat Genet , vol.10 , pp. 111-113
    • Frosst, P.1    Blom, H.J.2    Milos, R.3
  • 12
    • 0031971515 scopus 로고    scopus 로고
    • A second common mutation in the methylenetetrahydrofolate reductase gene: An additional risk factor for neural-tube defects?
    • 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 1998;62:1044-51.
    • (1998) Am J Hum Genet , vol.62 , pp. 1044-1051
    • van der Put, N.M.1    Gabreels, F.2    Stevens, E.M.3
  • 13
    • 0036016321 scopus 로고    scopus 로고
    • Linkage disequilibrium between the 677C>T and 1298A>C polymorphisms in human methylenetetrahydrofolate reductase gene and their contributions to risk of colorectal cancer
    • Chen J, Ma J, Stampfer MJ, Palomeque C, Selhub J, Hunter DJ. Linkage disequilibrium between the 677C>T and 1298A>C polymorphisms in human methylenetetrahydrofolate reductase gene and their contributions to risk of colorectal cancer. Pharmacogenetics 2002;12:339-42.
    • (2002) Pharmacogenetics , vol.12 , pp. 339-342
    • Chen, J.1    Ma, J.2    Stampfer, M.J.3    Palomeque, C.4    Selhub, J.5    Hunter, D.J.6
  • 14
    • 0029855024 scopus 로고    scopus 로고
    • A methylenetetrahydrofolate reductase polymorphism and the risk of colorectal cancer
    • Chen J, Giovannucci E, Kelsey K, et al. A methylenetetrahydrofolate reductase polymorphism and the risk of colorectal cancer. Cancer Res 1996;56:4862-4.
    • (1996) Cancer Res , vol.56 , pp. 4862-4864
    • Chen, J.1    Giovannucci, E.2    Kelsey, K.3
  • 16
    • 0036907435 scopus 로고    scopus 로고
    • 5,10-Methylenetetrahydrofolate reductase codon 677 and 1298 polymorphisms and colon cancer in African Americans and whites
    • Keku T, Millikan R, Worley K, et al. 5,10-Methylenetetrahydrofolate reductase codon 677 and 1298 polymorphisms and colon cancer in African Americans and whites. Cancer Epidemiol Biomarkers Prev 2002;11:1611-21.
    • (2002) Cancer Epidemiol Biomarkers Prev , vol.11 , pp. 1611-1621
    • Keku, T.1    Millikan, R.2    Worley, K.3
  • 19
    • 33846018546 scopus 로고    scopus 로고
    • Nonsynonymous polymorphisms in genes in the one-carbon metabolism pathway and associations with colorectal cancer
    • Koushik A, Kraft P, Fuchs CS, et al. Nonsynonymous polymorphisms in genes in the one-carbon metabolism pathway and associations with colorectal cancer. Cancer Epidemiol Biomarkers Prev 2006;15:2408-17.
    • (2006) Cancer Epidemiol Biomarkers Prev , vol.15 , pp. 2408-2417
    • Koushik, A.1    Kraft, P.2    Fuchs, C.S.3
  • 21
    • 0032799527 scopus 로고    scopus 로고
    • The 677C > T mutation in 5,10- methylenetetrahydrofolate reductase and colorectal cancer risk
    • Park KS, Mok JW, Kim JC. The 677C > T mutation in 5,10- methylenetetrahydrofolate reductase and colorectal cancer risk. Genet Test 1999;3:233-6.
    • (1999) Genet Test , vol.3 , pp. 233-236
    • Park, K.S.1    Mok, J.W.2    Kim, J.C.3
  • 22
    • 0035785560 scopus 로고    scopus 로고
    • The methylenetetrahydrofolate reductase (MTHFR) gene in colorectal cancer: Role in tumor development and significance of allelic loss in tumor progression
    • Ryan BM, Molloy AM, McManus R, et al. The methylenetetrahydrofolate reductase (MTHFR) gene in colorectal cancer: role in tumor development and significance of allelic loss in tumor progression. Int J Gastrointest Cancer 2001;30:105-11.
    • (2001) Int J Gastrointest Cancer , vol.30 , pp. 105-111
    • Ryan, B.M.1    Molloy, A.M.2    McManus, R.3
  • 23
    • 0036848540 scopus 로고    scopus 로고
    • A pharmacogenetic study to investigate the role of dietary carcinogens in the etiology of colorectal cancer
    • Sachse C, Smith G, Wilkie MJ, et al. A pharmacogenetic study to investigate the role of dietary carcinogens in the etiology of colorectal cancer. Carcinogenesis 2002;23:1839-49.
    • (2002) Carcinogenesis , vol.23 , pp. 1839-1849
    • Sachse, C.1    Smith, G.2    Wilkie, M.J.3
  • 24
    • 0036278536 scopus 로고    scopus 로고
    • A polymorphism in the methylenetetrahydrofolate reductase gene predisposes to colorectal cancers with microsatellite instability
    • Shannon B, Gnanasampanthan S, Beilby J, Iacopetta B. A polymorphism in the methylenetetrahydrofolate reductase gene predisposes to colorectal cancers with microsatellite instability. Gut 2002;50:520-4.
    • (2002) Gut , vol.50 , pp. 520-524
    • Shannon, B.1    Gnanasampanthan, S.2    Beilby, J.3    Iacopetta, B.4
  • 25
    • 0037444389 scopus 로고    scopus 로고
    • A common variant of the methylenetetrahydrofolate reductase gene (1p36) is associated with an increased risk of cancer
    • Heijmans BT, Boer JM, Suchiman HE, et al. A common variant of the methylenetetrahydrofolate reductase gene (1p36) is associated with an increased risk of cancer. Cancer Res 2003;63:1249-53.
    • (2003) Cancer Res , vol.63 , pp. 1249-1253
    • Heijmans, B.T.1    Boer, J.M.2    Suchiman, H.E.3
  • 26
    • 0344642951 scopus 로고    scopus 로고
    • Methylenetetrahydrofolate reductase polymorphisms and risk of sporadic and hereditary colorectal cancer with or without microsatellite instability
    • Plaschke J, Schwanebeck U, Pistorius S, Saeger HD, Schackert HK. Methylenetetrahydrofolate reductase polymorphisms and risk of sporadic and hereditary colorectal cancer with or without microsatellite instability. Cancer Lett 2003;191:179-85.
    • (2003) Cancer Lett , vol.191 , pp. 179-185
    • Plaschke, J.1    Schwanebeck, U.2    Pistorius, S.3    Saeger, H.D.4    Schackert, H.K.5
  • 27
    • 0038523843 scopus 로고    scopus 로고
    • Pufulete M, Al Ghnaniem R, Leather AJ, et al. Folate status, genomic DNA hypomethylation, and risk of colorectal adenoma and cancer: a case control study. Gastroenterology 2003;124:1240-8.
    • Pufulete M, Al Ghnaniem R, Leather AJ, et al. Folate status, genomic DNA hypomethylation, and risk of colorectal adenoma and cancer: a case control study. Gastroenterology 2003;124:1240-8.
  • 28
    • 0037312526 scopus 로고    scopus 로고
    • Methylenetetrahydrofolate reductase 677 C!T polymorphism and risk of proximal colon cancer in north Italy
    • Toffoli G, Gafa R, Russo A, et al. Methylenetetrahydrofolate reductase 677 C!T polymorphism and risk of proximal colon cancer in north Italy. Clin Cancer Res 2003;9:743-8.
    • (2003) Clin Cancer Res , vol.9 , pp. 743-748
    • Toffoli, G.1    Gafa, R.2    Russo, A.3
  • 29
    • 7744244730 scopus 로고    scopus 로고
    • Methylenetetrahydrofolate reductase polymorphism, alcohol intake, and risks of colon and rectal cancers in Korea
    • Kim DH, Ahn YO, Lee BH, Tsuji E, Kiyohara C, Kono S. Methylenetetrahydrofolate reductase polymorphism, alcohol intake, and risks of colon and rectal cancers in Korea. Cancer Lett 2004;216:199-205.
    • (2004) Cancer Lett , vol.216 , pp. 199-205
    • Kim, D.H.1    Ahn, Y.O.2    Lee, B.H.3    Tsuji, E.4    Kiyohara, C.5    Kono, S.6
  • 30
    • 11144236628 scopus 로고    scopus 로고
    • Colorectal cancer and the methylenetetrahydrofolate reductase 677C→ T and methionine synthase 2756A→ G polymorphisms: A study of 2,168 case-control pairs from the JANUS cohort
    • Ulvik A, Vollset SE, Hansen S, Gislefoss R, Jellum E, Ueland PM. Colorectal cancer and the methylenetetrahydrofolate reductase 677C→ T and methionine synthase 2756A→ G polymorphisms: a study of 2,168 case-control pairs from the JANUS cohort. Cancer Epidemiol Biomarkers Prev 2004;13:2175-80.
    • (2004) Cancer Epidemiol Biomarkers Prev , vol.13 , pp. 2175-2180
    • Ulvik, A.1    Vollset, S.E.2    Hansen, S.3    Gislefoss, R.4    Jellum, E.5    Ueland, P.M.6
  • 31
    • 19944366586 scopus 로고    scopus 로고
    • Methylenetetrahydrofolate reductase C677T and A1298C polymorphisms and colorectal cancer: The Fukuoka Colorectal Cancer Study
    • Yin G, Kono S, Toyomura K, et al. Methylenetetrahydrofolate reductase C677T and A1298C polymorphisms and colorectal cancer: the Fukuoka Colorectal Cancer Study. Cancer Sci 2004;95:908-13.
    • (2004) Cancer Sci , vol.95 , pp. 908-913
    • Yin, G.1    Kono, S.2    Toyomura, K.3
  • 32
    • 17144420868 scopus 로고    scopus 로고
    • Diets, polymorphisms of methylenetetrahydrofolate reductase, and the susceptibility of colon cancer and rectal cancer
    • Jiang Q, Chen K, Ma X, et al. Diets, polymorphisms of methylenetetrahydrofolate reductase, and the susceptibility of colon cancer and rectal cancer. Cancer Detect Prev 2005;29:146-54.
    • (2005) Cancer Detect Prev , vol.29 , pp. 146-154
    • Jiang, Q.1    Chen, K.2    Ma, X.3
  • 33
    • 27944455699 scopus 로고    scopus 로고
    • One-carbon metabolism related gene polymorphisms interact with alcohol drinking to influence the risk of colorectal cancer in Japan
    • Matsuo K, Ito H, Wakai K, et al. One-carbon metabolism related gene polymorphisms interact with alcohol drinking to influence the risk of colorectal cancer in Japan. Carcinogenesis 2005;26:2164-71.
    • (2005) Carcinogenesis , vol.26 , pp. 2164-2171
    • Matsuo, K.1    Ito, H.2    Wakai, K.3
  • 34
    • 30344440353 scopus 로고    scopus 로고
    • Folate, vitamin B6, vitamin B12, and vitamin B2 intake, genetic polymorphisms of related enzymes, and risk of colorectal cancer in a hospital-based case-control study in Japan
    • Otani T, Iwasaki M, Hanaoka T, et al. Folate, vitamin B6, vitamin B12, and vitamin B2 intake, genetic polymorphisms of related enzymes, and risk of colorectal cancer in a hospital-based case-control study in Japan. Nutr Cancer 2005;53:42-50.
    • (2005) Nutr Cancer , vol.53 , pp. 42-50
    • Otani, T.1    Iwasaki, M.2    Hanaoka, T.3
  • 35
    • 31544481440 scopus 로고    scopus 로고
    • Associations between 5,10-methylenetetrahydrofolate reductase codon 677 and 1298 genetic polymorphisms and environmental factors with reference to susceptibility to colorectal cancer: A case-control study in an Indian population
    • Wang J, Gajalakshmi V, Jiang J, et al. Associations between 5,10-methylenetetrahydrofolate reductase codon 677 and 1298 genetic polymorphisms and environmental factors with reference to susceptibility to colorectal cancer: a case-control study in an Indian population. Int J Cancer 2006;118:991-7.
    • (2006) Int J Cancer , vol.118 , pp. 991-997
    • Wang, J.1    Gajalakshmi, V.2    Jiang, J.3
  • 36
    • 0033788778 scopus 로고    scopus 로고
    • Associations between family history of cancer and genes coding for metabolizing enzymes (United States)
    • Slattery ML, Edwards SL, Samowitz W, Potter J. Associations between family history of cancer and genes coding for metabolizing enzymes (United States). Cancer Causes Control 2000;11:799-803.
    • (2000) Cancer Causes Control , vol.11 , pp. 799-803
    • Slattery, M.L.1    Edwards, S.L.2    Samowitz, W.3    Potter, J.4
  • 38
    • 0035866370 scopus 로고    scopus 로고
    • Age-associated risk of cancer among individuals with N-acetyltransferase 2 (NAT2) mutations and mutations in DNA mismatch repair genes
    • Frazier ML, O'Donnell FT, Kong S, et al. Age-associated risk of cancer among individuals with N-acetyltransferase 2 (NAT2) mutations and mutations in DNA mismatch repair genes. Cancer Res 2001;61:1269-71.
    • (2001) Cancer Res , vol.61 , pp. 1269-1271
    • Frazier, M.L.1    O'Donnell, F.T.2    Kong, S.3
  • 39
    • 34247236775 scopus 로고    scopus 로고
    • Association between Aurora-A kinase polymorphisms and age of onset of hereditary nonpolyposis colorectal cancer in a Caucasian population
    • Chen J, Sen S, Amos CI, et al. Association between Aurora-A kinase polymorphisms and age of onset of hereditary nonpolyposis colorectal cancer in a Caucasian population. Mol Carcinog 2007.
    • (2007) Mol Carcinog
    • Chen, J.1    Sen, S.2    Amos, C.I.3
  • 40
    • 3042641333 scopus 로고    scopus 로고
    • 2LD, GENECOUNTING, and HAP: Computer programs for linkage disequilibrium analysis
    • Zhao JH. 2LD, GENECOUNTING, and HAP: computer programs for linkage disequilibrium analysis. Bioinformatics 2004;20:1325-6.
    • (2004) Bioinformatics , vol.20 , pp. 1325-1326
    • Zhao, J.H.1
  • 41
    • 77649195991 scopus 로고    scopus 로고
    • SNP500Cancer [database on the Internet, MD, National Cancer Institute Cancer Genome Anatomy Project, cited 2007 May 30] Available from
    • SNP500Cancer [database on the Internet]. Bethesda (MD): National Cancer Institute Cancer Genome Anatomy Project. [cited 2007 May 30] Available from: http://snp500cancer.nci.nih.gov/.
    • Bethesda
  • 42
    • 34548841114 scopus 로고    scopus 로고
    • Database of single nucleotide polymorphisms (dbSNP) [database on the Internet]. Bethesda (MD): National Center for Biotechnology Information, National Library of Medicine. (dbSNP Build ID: {build ID}). [cited 2007 May 30]. Available from: http://www.ncbi.nlm.nih.gov/SNP/.
    • Database of single nucleotide polymorphisms (dbSNP) [database on the Internet]. Bethesda (MD): National Center for Biotechnology Information, National Library of Medicine. (dbSNP Build ID: {build ID}). [cited 2007 May 30]. Available from: http://www.ncbi.nlm.nih.gov/SNP/.
  • 43
    • 33846811416 scopus 로고    scopus 로고
    • MTHFR C677T and colorectal cancer risk: A meta-analysis of 25 populations
    • Hubner RA, Houlston RS. MTHFR C677T and colorectal cancer risk: a meta-analysis of 25 populations. Int J Cancer 2007;120:1027-35.
    • (2007) Int J Cancer , vol.120 , pp. 1027-1035
    • Hubner, R.A.1    Houlston, R.S.2
  • 44
    • 33845869785 scopus 로고    scopus 로고
    • Different roles of MTHFR C677T and A1298C polymorphisms in colorectal adenoma and colorectal cancer: A meta-analysis
    • Huang Y, Han S, Li Y, Mao Y, Xie Y. Different roles of MTHFR C677T and A1298C polymorphisms in colorectal adenoma and colorectal cancer: a meta-analysis. J Hum Genet 2007;52:73-85.
    • (2007) J Hum Genet , vol.52 , pp. 73-85
    • Huang, Y.1    Han, S.2    Li, Y.3    Mao, Y.4    Xie, Y.5
  • 45
    • 0032146118 scopus 로고    scopus 로고
    • Hypermethylation of the hMLH1 promoter in colon cancer with microsatellite instability
    • Cunningham JM, Christensen ER, Tester DJ, et al. Hypermethylation of the hMLH1 promoter in colon cancer with microsatellite instability. Cancer Res 1998;58:3455-60.
    • (1998) Cancer Res , vol.58 , pp. 3455-3460
    • Cunningham, J.M.1    Christensen, E.R.2    Tester, D.J.3
  • 46
    • 13144266670 scopus 로고    scopus 로고
    • Incidence and functional consequences of hMLH1 promoter hypermethylation in colorectal carcinoma
    • Herman JG, Umar A, Polyak K, et al. Incidence and functional consequences of hMLH1 promoter hypermethylation in colorectal carcinoma. Proc Natl Acad Sci USA 1998;95:6870-5.
    • (1998) Proc Natl Acad Sci USA , vol.95 , pp. 6870-6875
    • Herman, J.G.1    Umar, A.2    Polyak, K.3
  • 47
    • 1442300286 scopus 로고    scopus 로고
    • Polymorphisms in genes involved in folate metabolismand colorectal neoplasia: A HuGE review
    • Sharp L, Little J. Polymorphisms in genes involved in folate metabolismand colorectal neoplasia: a HuGE review. Am J Epidemiol 2004;159:423-43.
    • (2004) Am J Epidemiol , vol.159 , pp. 423-443
    • Sharp, L.1    Little, J.2
  • 48
    • 34548861240 scopus 로고    scopus 로고
    • InSiGHT mutation database [database on the Internet, cited 2007 May 30, Available from
    • InSiGHT mutation database [database on the Internet]: International Society for Hereditary Gastrointestinal Tumours [cited 2007 May 30]. Available from: http://www.insight-group.org/.
    • International Society for Hereditary Gastrointestinal Tumours
  • 49
    • 23244452266 scopus 로고    scopus 로고
    • Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1
    • Raevaara TE, Korhonen MK, Lohi H, et al. Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1. Gastroenterology 2005;129:537-49.
    • (2005) Gastroenterology , vol.129 , pp. 537-549
    • Raevaara, T.E.1    Korhonen, M.K.2    Lohi, H.3
  • 50
    • 33847794097 scopus 로고    scopus 로고
    • Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics
    • Lagerstedt RK, Liu T, Vandrovcova J, et al. Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics. J Natl Cancer Inst 2007;99:291-9.
    • (2007) J Natl Cancer Inst , vol.99 , pp. 291-299
    • Lagerstedt, R.K.1    Liu, T.2    Vandrovcova, J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.