A haplotype of the methylenetetrahydrofolate reductase gene predicts poor tumor response in rectal cancer patients receiving preoperative chemoradiation

Minsky, 1992, Combined modality therapy of rectal cancer: decreased acute toxicity with the preoperative approach, J Clin Oncol, 10, 1218, 10.1200/JCO.1992.10.8.1218

Chan, 1997, ‘Sandwich’ preoperative and postoperative combined chemotherapy and radiation in tethered and fixed rectal cancer: impact of treatment intensity on local control and survival, Int J Radiat Oncol Biol Phys, 37, 629, 10.1016/S0360-3016(96)00603-7

Mohiuddin, 2000, Preoperative chemoradiation in fixed distal rectal cancer: dose time factors for pathological complete response, Int J Radiat Oncol Biol Phys, 46, 883, 10.1016/S0360-3016(99)00486-1

Pucciarelli, 2000, Preoperative combined radiotherapy and chemotherapy for middle and lower rectal cancer: preliminary results, Ann Surg Oncol, 7, 38, 10.1007/s10434-000-0038-5

Theodoropoulos, 2002, T-level downstaging and complete pathologic response after preoperative chemoradiation for advanced rectal cancer result in decreased recurrence and improved disease-free survival, Dis Colon Rectum, 45, 895, 10.1007/s10350-004-6325-7

Relling, 2001, Pharmacogenetics and cancer therapy, Nat Rev Cancer, 1, 99, 10.1038/35101056

Nagasubramanian, 2003, Pharmacogenetics in cancer treatment, Ann Rev Med, 54, 437, 10.1146/annurev.med.54.101601.152352

Ulrich, 2003, Cancer pharmacogenetics: polymorphisms, pathways and beyond, Nat Rev Cancer, 3, 912, 10.1038/nrc1233

Pullarkat, 2001, Thymidylate synthase gene polymorphism determines response and toxicity of 5-FU chemotherapy, Pharmacogenomics J, 1, 65, 10.1038/sj.tpj.6500012

Villafranca, 2001, Polymorphisms of the repeated sequences in the enhancer region of the thymidylate synthase gene promoter may predict downstaging after preoperative chemoradiation in rectal cancer, J Clin Oncol, 19, 1779, 10.1200/JCO.2001.19.6.1779

Mandola, 2003, A novel single nucleotide polymorphism within the 50 tandem repeat polymorphism of the thymidylate synthase gene abolishes USF-1 binding and alters transcriptional activity, Cancer Res, 63, 2898

Marcuello, 2004, Single nucleotide polymorphism in the 5′ tandem repeat sequences of thymidylate synthase gene predicts for response to fluorouracil-based chemotherapy in advanced colorectal cancer patients, Int J Cancer, 112, 733, 10.1002/ijc.20487

Cohen, 2003, Methylenetetrahydrofolate reductase polymorphism in advanced colorectal cancer: a novel genomic predictor of clinical response to fluoropyrimidine-based chemotherapy, Clin Cancer Res, 9, 1611

Etienne, 2004, Methylenetetrahydrofolate reductase gene polymorphisms and response to fluorouracil-based treatment in advanced colorectal cancer patients, Pharmacogenetics, 14, 785, 10.1097/00008571-200412000-00001

Jakobsen, 2005, Thymidylate synthase and methylenetetrahydrofolate reductase gene polymorphism in normal tissue as predictors of fluorouracil sensitivity, J Clin Oncol, 23, 1365, 10.1200/JCO.2005.06.219

Horie, 1995, 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, 20, 191, 10.1247/csf.20.191

Johnston, 1995, Thymidylate synthase gene and protein expression correlate and are associated with response to 5-fluorouracil in human colorectal and gastric tumors, Cancer Res, 55, 1407

Salonga, 2000, Colorectal tumors responding to 5-fluorouracil have low gene expression levels of dihydropyrimidine dehydrogenase, thymidylate synthase, and thymidine phosphorylase, Clin Cancer Res, 6, 1322

Santi, 1974, Mechanism of interaction of thymidylate synthetase with 5-fluorodeoxyuridylate, Biochemistry, 13, 471, 10.1021/bi00700a012

Fodinger, 2000, Molecular biology of 5,10-methylenetetrahydrofolate reductase, J Nephrol, 13, 20

Longley, 2003, 5-fluorouracil: mechanisms of action and clinical strategies, Nat Rev Cancer, 3, 330, 10.1038/nrc1074

Sohn, 2004, Effect of the methylenetetrahydrofolate reductase C677T polymorphism on chemosensitivity of colon and breast cancer cells to 5-fluorouracil and methotrexate, J Natl Cancer Inst, 96, 134, 10.1093/jnci/djh015

Mummidi, 2000, Evolution of human and non-human primate CC chemokine receptor 5 gene and mRNA. Potential roles for haplotype and mRNA diversity, differential haplotype-specific transcriptional activity, and altered transcription factor binding to polymorphic nucleotides in the pathogenesis of HIV-1 and simian immunodeficiency virus, J Biol Chem, 275, 18946, 10.1074/jbc.M000169200

Lesueur, 2002, Specific haplotypes of the RET proto-oncogene are over-represented in patients with sporadic papillary thyroid carcinoma, J Med Genet, 39, 260, 10.1136/jmg.39.4.260

Chen, 2002, Linkage disequilibrium between the 677C>T and 1298A>C polymorphisms in human methylenetetrahydrofolate reductase gene and their contributions to risk of colorectal cancer, Pharmacogenetics, 12, 339, 10.1097/00008571-200206000-00011

Shi, 2003, Genotype frequencies and linkage disequilibrium in the CEPH human diversity panel for variants in folate pathway genes MTHFR, MTHFD, MTRR, RFC1, and GCP2, Birth Defects Res A Clin Mol Teratol, 67, 545, 10.1002/bdra.10076

Weisberg, 1998, A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity, Mol Genet Metab, 64, 169, 10.1006/mgme.1998.2714

Friedman, 1999, A common mutation A1298C in human methylenetetrahydrofolate reductase gene: association with plasma total homocysteine and folate concentrations, J Nutr, 129, 1656, 10.1093/jn/129.9.1656

Trotti, 2000, Common toxicity criteria: version 2.0—An improved reference for grading the acute effects of cancer treatment: Impact on radiotherapy, Int J Radiat Oncol Biol Phys, 47, 13, 10.1016/S0360-3016(99)00559-3

Kawakami, 2003, Identification and functional analysis of single nucleotide polymorphism in the tandem repeat sequence of thymidylate synthase gene, Cancer Res, 63, 6004

Fleming, 1997, AJCC American Joint Committee on Cancer. AJCC cancer staging manual. 5th ed, 83

Mandard, 1994, Pathologic assessment of tumor regression after preoperative chemoradiotherapy of esophageal carcinoma. Clinicopathologic correlations, Cancer, 73, 2680, 10.1002/1097-0142(19940601)73:11<2680::AID-CNCR2820731105>3.0.CO;2-C

Excoffier, 2005, Arlequin ver. 3.0: an integrated software package for population genetics data analysis, Evolutionary Bioinformatics Online, 1, 47

Park, 2002, Thymidylate synthase gene polymorphism predicts response to capecitabine in advanced colorectal cancer, Int J Colorectal Dis, 17, 46, 10.1007/s003840100358

Marcuello, 2006, Methylenetetrahydrofolate reductase gene polymorphisms: genomic predictors of clinical response to fluoropyrimidine-based chemotherapy?, Cancer Chemother Pharmacol, 57, 835, 10.1007/s00280-005-0089-1

Sarbia, 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, 10.1038/sj.bjc.6602900

Kawakami, 2003, The folate pool in colorectal cancers is associated with DNA hypermethylation and with a polymorphism in methylenetetrahydrofolate reductase, Clin Cancer Res, 9, 5860

Urano, 2002, 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, 10.1097/00008571-200204000-00002

Ryan, 2001, The methylenetetrahydrofolate reductase (MTHFR) gene in colorectal cancer: role in tumor development and significance of allelic loss in tumor progression, Int J Gastrointest Cancer, 30, 105, 10.1385/IJGC:30:3:105

Aschele, 2002, Thymidylate synthase expression as a predictor of clinical response to fluoropyrimidine-based chemotherapy in advanced colorectal cancer, Cancer Treat Rev, 28, 27, 10.1053/ctrv.2002.0253

Saw, 2003, p53, deleted in colorectal cancer gene, and thymidylate synthase as predictors of histopathologic response and survival in low, locally advanced rectal cancer treated with preoperative adjuvant therapy, Dis Colon Rectum, 46, 192, 10.1007/s10350-004-6524-2

Etienne, 2002, Prognostic value of tumoral thymidylate synthase and p53 in metastatic colorectal cancer patients receiving fluorouracil-based chemotherapy: phenotypic and genotypic analyses, J Clin Oncol, 20, 2832, 10.1200/JCO.2002.09.091

Tsuji, 2003, Polymorphism in the thymidylate synthase promoter enhancer region is not an efficacious marker for tumor sensitivity to 5-fluorouracil-based oral adjuvant chemotherapy in colorectal cancer, Clin Cancer Res, 9, 3700

Vogelstein, 1989, Allelotype of colorectal carcinomas, Science, 244, 207, 10.1126/science.2565047

Zinzindohoue, 2001, Correspondence, J Clin Oncol, 19, 3442, 10.1200/JCO.2001.19.14.3442

Uchida, 2004, Loss of heterozygosity at the thymidylate synthase (TS) locus on chromosome 18 affects tumor response and survival in individuals heterozygous for a 28-bp polymorphism in the TS gene, Clin Cancer Res, 10, 433, 10.1158/1078-0432.CCR-0200-03