Pharmacogenomics of fluorouracil-based chemotherapy toxicity

Bibliography

• JAMeyerhardt, RJMayer. Systemic therapy for colorectal cancer. N Engl J Med 2005;352:476–87
   PubMed Web of Science ®Google Scholar
• RBDiasio, BEHarris. Clinical pharmacology of 5-fluorouracil. Clin Pharmacokinet 1989;16:215-37
   PubMed Web of Science ®Google Scholar
• HLMcLeod, JYu. Cancer pharmacogenomics: SNPs, chips, and the individual patient. Cancer Invest 2003;21:630-40
   PubMed Web of Science ®Google Scholar
• The Meta-Analysis Group in Cancer. Toxicity of fluorouracil in patients with advanced colorectal cancer: effect of administration schedule and prognostic factors. J Clin Oncol 1998;16(11):3537-41
   PubMed Web of Science ®Google Scholar
• TTamura, AKuwahara, KKadoyama, et al. Effects of bolus injection of 5-fluorouracil on steady-state plasma concentrations of 5-fluorouracil in Japanese patients with advanced colorectal cancer. Int J Med Sci 2011;8(5):406-12
   PubMed Web of Science ®Google Scholar
• GDHeggie, JPSOmmadossi, DSCross, et al. Clinical pharmacokinetics of 5-fluorouracil and its metabolites inplasma, urine, and bile. Cancer Res 1987;47:2203-6
   PubMed Web of Science ®Google Scholar
• GMilano, HLMcleod. Can dihydropyrimidine dehydrogenase impact 5-fluorouracil-based treatment? Eur J Cancer 2000;36(1):37-40
   PubMed Web of Science ®Google Scholar
• LKMattison, RSoong, RBDiasio. Implications of dihydropyrimidine dehydrogenase on 5-fluorouracil pharmacogenetics and pharmacogenomics. Pharmacogenomics 2002;3(4):485-92
   PubMed Web of Science ®Google Scholar
• CGLeichman, HJLenz, LLeichman, et al. Quantitation of intratumoral thymidylate synthase expression predicts for disseminated colorectal cancer response and resistance to protracted-infusion fluorouracil and weekly leucovorin. J Clin Oncol 1997;15:3223-9
   PubMed Web of Science ®Google Scholar
• CAschele, DDebernardis, SCasazza, et al. Immunohistochemical quantitation of thymidylate synthase expression in colorectal cancer metastases predicts for clinical outcome to fluorouracil-based chemotherapy. J Clin Oncol 1999;17:1760-70
   PubMed Web of Science ®Google Scholar
• WBParker, YCCheng. Metabolism and mechanism of action of 5-fluorouracil. Pharmacol Ther 1990;48:381-95
   PubMed Web of Science ®Google Scholar
• JLGrem. 5-Fluorouracil: forty-plus and still ticking. A review of its preclinical and clinical development. Invest New Drugs 2000;18:299-313
   PubMed Web of Science ®Google Scholar
• PVDanenberg. Thymidylate synthetase – a target enzyme in cancer therapy. Biochim Biophys Acta 1977;473:73-92
   PubMed Web of Science ®Google Scholar
• DBLongley, DPHarkin, PGJohnston. 5-fluorouracil: mechanisms of action and clinical strategies. Nat Rev Cancer 2003;3:330-8
   PubMed Web of Science ®Google Scholar
• WIchikawa, HUetake, YShirota, et al. Both gene expression for orotate phosphoribosyl-transferase and its ratio to dihydropyrimidine dehydrogenase influence outcome following fluoropyrimidine-based chemotherapy for metastatic colorectal cancer. Br J Cancer 2003;89:1486-92
   PubMed Web of Science ®Google Scholar
• JGMaring, ABPvan Kuilenburg, JHaasjes, et al. Reduced 5-FU clearance in a patients with low DPD activity due to heterozygosity for a mutant allele of the DPYD gene. Br J Cancer 2002;86:1028-33
   PubMed Web of Science ®Google Scholar
• RBDiasio, TLBeavers, JTCarpenter, et al. Familial deficiency of dihydropyrimidine dehydrogenase. Biochemical basis for familial pyrimidinemia and severe 5-fluorouracil-induced toxicity. J Clin Invest 1988;81:47-51
   PubMed Web of Science ®Google Scholar
• UAmstutz, TKFroehlich, CRLargiader. Dihydropyrimidine dehydrogenase gene as a major predictor of severe 5-fluorouracil toxicity. Pharmacogenomics 2010;10(2):89-92
   Google Scholar
• CGYang, JCiccolini, ABlesius, et al. DPD-based adaptive dosing of 5-FU in patients with head and neck cancer: impact on treatment efficacy and toxicity. Cancer Chemother Pharmacol 2011;67:49-56
   PubMed Web of Science ®Google Scholar
• CMercier, JCiccolini. Profiling dihydropyrimidine dehydrogenase deficiency in patients with cancer undergoing 5-fluorout⟈racil/capecitabine therapy. Clin Colorectal Cancer 2006;6(4):288-96
   PubMed Web of Science ®Google Scholar
• MCEtienne, JLLagrange, ODassonville, et al. Population study of dihydropyrimidine dehydrogenase in cancer-patients. J Clin Oncol 1994;12(11):2248-53
   PubMed Web of Science ®Google Scholar
• ZLu, RWZhang, RBDiasio. Dihydropyrimidine dehydrogenase-activity in human peripheral-blood mononuclear-cells and liver – population characteristics, newly identified deficient patients, and clinical implication in 5-fluorouracil chemotherapy. Cancer Res 1993;53(22):5433-8
   PubMed Web of Science ®Google Scholar
• JABakkeren, RADe Abreu, RCSengers, et al. Elevated urine, blood and cerebrospinal fluid levels of uracil and thymine in a child with dihydrothymine dehydrogenase deficiency. Clin Chem Acta 1984;140(3):247-56
   PubMed Web of Science ®Google Scholar
• RBerger, SAStoker-De Vries, SKWadman, et al. Dihydropyrimidine dehydrogenase deficiency leading to thymine-uraciluria. An inborn error of pyrimidine metabolism. Clin Chem Acta 1984;141(2-3):227-34
   PubMed Web of Science ®Google Scholar
• ABvan Kuilenburg, PVreken, NGAbeling, et al. Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency. Hum Genet 1999;104(1):1-9
   PubMed Web of Science ®Google Scholar
• MRaida, PSchwabe, PHausler, et al. Prevalence of a common point mutation in the dihydropyrimidine dehydrogenase (DPD) gene within the 5’-splice donor site of intron 14 in patients with severe 5-fluorouracil (5-FU)-related toxicity compared with controls. Clin Cancer Res 2001;7(9):2832-9
   PubMed Web of Science ®Google Scholar
• HEzzeldin, RDiasio. Dihydropyrimidine dehydrogenase deficiency, a pharmacogenetic syndrome associated with potentially life-threatening toxicity following 5-fluorouracil administration. Clin Colorectal Cancer 2004;4:181-9
   PubMedGoogle Scholar
• JSantini, GMilano, AThyss, et al. 5-FU therapeutic monitoring with dose adjustment leads to an improved therapeutic index in head and neck-cancer. Br J Cancer 1989;59(2):287-90
   PubMed Web of Science ®Google Scholar
• SConnolly, PScott, DCochrane, RHarte. A case report of 5-fluorouracil-induced coronary artery vasospasm. Ulster Med J 2010;79(3):135-6
   PubMedGoogle Scholar
• MMosseri, HJFingert, LVarticovski, et al. In vitro evidence that myocardial ischemia resulting from 5-fluorouracil chemotherapy is due to protein kinase C-mediated vasoconstriction of vascular smooth muscle. Cancer Res 1993;53(13):3028-33
   PubMed Web of Science ®Google Scholar
• MWSaif, MCGarcon, GRodriguez, TRodriguez. Bolus 5-fluorouracil as an alternative in patients with cardiotoxicity associated with infusion 5-fluorouracil and capecitabine: a case series. In Vivo 2013;27(4):531-4
   PubMed Web of Science ®Google Scholar
• XWei, GElizondo, ASapone, et al. Characterization of the human dihydropyrimidine dehydrogenase gene. Genomics 1998;51(3):391-400
   PubMed Web of Science ®Google Scholar
• STSherry, MHWard. Kholodov M et al. dbDNP: the NCBI database of genetic variation. Nucleic Acids Res 2001;29(1):308-11
   PubMed Web of Science ®Google Scholar
• XXWei, HLMcleod, JMcmurrough, et al. Molecular basis of the human dihydropyrimidine dehydrogenase deficiency and 5-fluorouracil toxicity. J Clin Invest 1996;98(3):610-15
   PubMed Web of Science ®Google Scholar
• UAmstutz, SFarese, SAebi, et al. Dihydropyrimidine dehydrogenase gene variation and severe 5-fluorouracil toxicity: a haplotype assessment. Pharmacogenomics 2009;10:931-44
   PubMed Web of Science ®Google Scholar
• PVreken, ABPVankuilenburg, RMeinsma, et al. A point mutation in an invariant splice donor site leads to exon skipping in two unrelated Dutch patients with dihydropyrimidine dehydrogenase deficiency. J Inherit Metab Dis 1996;19(5):645-54
   PubMed Web of Science ®Google Scholar
• ABPvan Kuilenburg, RMeisma, LZoetekouw, et al. High prevalence of the IVS14+1G>A mutation in the dihydropyrimidine dehydrogenase gene of patients with severe 5-fluorouracil-associated toxicity. Pharmacogenetics 2002;12(7):555-8
   PubMedGoogle Scholar
• AMorel, MBoisdroCelle, LFey, et al. Clinical relevance of different dihydropyrimidine dehydrogenase gene single nucleotide polymorphisms on 5-fluorouracil tolerance. Mol Cancer Ther 2006;5(11):2895-904
   PubMed Web of Science ®Google Scholar
• MSchwab, UMZanger, CMarx, et al. Role of genetic and nongenetic factors for fluorouracil treatment-related severe toxicity: a prospective clinical trial by the German 5-FU toxicity study group. J Clin Oncol 2008;26(13):2131-8
   PubMed Web of Science ®Google Scholar
• LKMattison, MRJohnson, RBDiasio. A comparative analysis of translated dihydropyrimidine dehydrogenase cDNA, conservation of functional domains and relevance to genetic polymorphisms. Pharmacogenetics 2002;12(2):133-44
   PubMedGoogle Scholar
• ABvan Kuilenburg, DDobritzsch, RMeinsma, et al. Novel disease-causing mutations in the dihydropyrimidine dehydrogenase gene interpreted by analysis of the three-dimensional protein structure. Biochem J 2002;364:157-63
   PubMed Web of Science ®Google Scholar
• MRJohnson, KWang, RBDiasio, et al. Profound dihydropyrimidine dehydrogenase deficiency resulting from a novel compound heterozygote genotype. Clin Cancer Res 2002;8(3):769-74
   Google Scholar
• HEzzeldin, MRJohnson, YOkamoto, et al. Denaturing high performance liquid chromatography analysis of the DPYD gene in patients with lethal 5-fluorouracil toxicity. Clin Cancer Res 2003;9(8):3021-8
   PubMed Web of Science ®Google Scholar
• KECaudle, CFThorn, TEKlein, et al. Clinical pharmacogenetics implementation consortium guidelines for dehydropyrimidine dehydrogenase genotype and fluoropyrimidine dosing. Clin Pharmacol Ther 2013;94:640-5
   PubMed Web of Science ®Google Scholar
• EGross, BBusse, MRiemenschneider, et al. Strong association of a common dihydropyrimidine dehydrogenase gene polymorphism with fluoropyrimidine-related toxicity in cancer patients. PLoS ONE 2008;3(12):e4003
   PubMed Web of Science ®Google Scholar
• SMGressett, BLStanford, FHardwicke. Management of hand-foot syndrome induced by capecitabine. J Oncol Pharm Pract 2006;12:131-41
   PubMedGoogle Scholar
• ECGarmelin, EMDanquechin-Dorval, YDumesnil, et al. Relationship between 5-fluorouracil dose-intensity and therapeutic response in patients with advanced colorectal cancer receiving 5-FU containing infusional therapy. Cancer 1996;77:441-51
   PubMed Web of Science ®Google Scholar
• LKTeh, SHamzah, HHashim, et al. Potential of dihydropyrimidine dehydrogenase genotypes in personalizing 5-fluorouracil therapy among colorectal cancer patients. The Drug Monit 2013;35(5):624-30
   PubMed Web of Science ®Google Scholar
• AMLee, QShi, EPavey, et al. DPYD variants as predictors of 5-fluorouracil toxicity in adjuvant colon cancer treatment (NCCTG N0147). Clin Cancer Res 2014;106(12):dju298
   Google Scholar
• ABvan Kuilenburg, JMeijer, ANMul, et al. Intragenic deletions and a deep intronic mutation affecting pre-mRNA splicing in the dihydropyrimidine dehydrogenase gene as novel mechanisms causing 5-fluorouracil toxicity. Hum Genet 2010;128:529-38
   PubMed Web of Science ®Google Scholar
• TKFroehlich, UAmstutz, SAebi, et al. Clinical importance of risk variants in the dihydropyrimidine dehydrogenase gene for the presiction of early-onset fluoropyrimidine toxicity. Int J Cancer 2015;136(3):730-9
   PubMed Web of Science ®Google Scholar
• BVogelstein, ERFearon, SEKern, et al. Allelptype of colorectal carcinoma. Science 1989;244:207-11
   PubMed Web of Science ®Google Scholar
• NHorie, HAiba, KOguro, et al. 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;20:191-7
   PubMed Web of Science ®Google Scholar
• CMUlrich, JBigler, CMVelicer, et al. Searching expressed sequence tag databases: discovery and confirmation of a common polymorphism in the thymidylate synthase gene. Cancer Epidemiol Biomark Prev 2000;9:1381-5
   PubMed Web of Science ®Google Scholar
• STPullarkat, JStoehlmacher, VGhaderi, et al. Thymidylate synthase gene polymorphism determines response and toxicity of 5-FU chemotherapy. Pharmacogenomics J 2001;1:65-70
   PubMedGoogle Scholar
• TLecomte, JMFerraz, FZinzindohooue, et al. Thymidylate synthase gene polymorphism predicts toxicity in colorectal cancer patients receiving 5-fluorouracil-based chemotherapy. Clin Cancer Res 2004;10:5880-8
   PubMed Web of Science ®Google Scholar
• EDoctor, MCuatrecases, MMartinez-Iniesta, et al. Tumor thymidylate synthase 1494del6 genotype as a prognostic factor in colorectal cancer patients receiving fluorouracil-based adjuvant treatment. J Clin Oncol 2006;24:1603-11
   PubMed Web of Science ®Google Scholar
• DJPark, JStoehlmacher, WZhang, et al. Thymidylate synthase gene polymorphism predicts response to capecitabine in advanced colorectal cancer. Int J Colorectal Dis 2002;17:46-9
   PubMed Web of Science ®Google Scholar
• AJakobsen, JNNielsen, NGyldenkerne, et al. Thymidylate synthase and methylenetetrahydrofolate reductase gene polymorphism in normal tissue as predictors of fluorouracil sensitivity. J Clin Oncol 2005;23:1365-9
   PubMed Web of Science ®Google Scholar
• KRobien, ABoynton, CMUlrich. Pharmacogenetics of folate-related drug targets in cancer treatment. Pharmacogenomics 2005;6:673-89
   PubMed Web of Science ®Google Scholar
• VCohen, VPanet-Raymond, NSabbaghian, et al. Methylenetetrahydrofolate reductase polymorphism in advanced colorectal cancer: a novel genomic predictor of clinical response to fluoropyrimidine-based chemotherapy. Clin Cancer Res 2003;9:1611-15
   PubMed Web of Science ®Google Scholar
• MCEtienne, JLFormento, MChazal, et al. Methylenetetrahydrofolate reductase gene polymorphisms and response to fluorouracil-based treatment in advanced colorectal cancer patients. Pharmacogenetics 2004;14:785-92
   PubMedGoogle Scholar
• SAfzal, MGusella, BVainer, et al. Combinations of polymorphisms in genes involved in the 5-fluorouracil metabolism pathway are associated with gastrointestinal toxicity in chemotherapy-treated colorectal cancer patients. Clin Cancer Res 2011;17(11):3822-9
   PubMed Web of Science ®Google Scholar
• FThomas, AAMostsinger-Reif, JMHoskins, et al. Methylenetetra-hydrofolate reductase genetic polymorphisms and toxicity to 5-FU-based chemoradiation in rectal cancer. Br J Cancer 2011;105:1654-62
   PubMed Web of Science ®Google Scholar
• CMUlrich, CRankin, ATToriola, et al. Polymorphisms in folate-metabolizing enzymes and response to 5-fluorouracil among patients with stage II or III rectal cancer 8INT-0144; SWOG 9304). Cancer 2014;120:3329-37
   PubMed Web of Science ®Google Scholar
• MCEtienne-Grimaldi, GMalino, FMaindrault-Goebel, et al. Methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms and FOLFOX response in colorectal cancer patients. Br J Clin Pharmacol 2010;69(1):58-66
   PubMed Web of Science ®Google Scholar
• DRosmarin, CPalles, DChurch, et al. Genetic markers of toxicity from capecitabine and other fluorouracil-based regimens: investigation in the QUASAR2 study, systemic review, and meta-analysis. J Clin Oncol 2014;32(10):1031-9
   PubMed Web of Science ®Google Scholar
• WIchikawa, TTakahashi, KSuto, et al. Orotate phosphoribosyltransferase gene polymorphism predicts toxicity in patients treated with bolus 5-fluorouracil regimens. Clin Cancer Res 2006;12(13):3928-34
   PubMed Web of Science ®Google Scholar
• ATsunoda, KNakano, MWatanabe, et al. Associations of various gene polymorphisms with toxicity in colorectal cancer patients receiving oral uracil and tegafur plus leucovorin: a prospective study. Ann Oncol 2011;22:355-61
   PubMed Web of Science ®Google Scholar
• FMueller, BBuchel, DKoberle, et al. Gender-specific elimination of continuous-infusional 5-fluorouracil inpatients with gastrointestinal malignancies: results from a prospective population pharmacokinetic study. Cancer Chemother Pharmacol 2013;71:361-70
   PubMed Web of Science ®Google Scholar
• CMPrado, VEBaracos, LJMcCargar, et al. Body composition as an independent determinant of 5-fluorouracil-based chemotherapy toxicity. Clin Cancer Res 2007;13:3264-8
   PubMed Web of Science ®Google Scholar
• PVerhoef, RMeleady, LEDaly, et al. Homocysteine, vitamin status and risk of vascular disease: effects of gender and menopausal status. European COMAC Group. Eur Heart J 1999;20:1234-44
   PubMed Web of Science ®Google Scholar
• ALoganayagam, MArenas-Hernandez, LFairbanks, et al. The contribution of deleterious DPYD gene sequence variants to fluoropyrimidine toxicity in British cancer patients. Cancer Chemother Pharmacol 2010;65(2):403-6
   PubMed Web of Science ®Google Scholar
• TKubota. 5-fluorouracil and dihydropyrimidine dehydrogenase. Int J Clin Oncol 2003;8:127-31
   PubMedGoogle Scholar
• RBFredj, EGross, LChouchen, et al. Mutational spectrum of dihydropyrimidine dehydrogenase gene (DPYD) in the Tunisian population. C R Biol 2007;330:764-9
   PubMed Web of Science ®Google Scholar
• CMWalko, CLindley. Capecitabine: a review. Clin Ther 2005;27(1):23-44
   PubMed Web of Science ®Google Scholar
• IChau, ARNorman, DCunningham, et al. A randomized comparison between 6 months of bolus fluorouracil/leucovorin and 12 weeks of protracted venous infusion fluorouracil as adjuvant treatment in colorectal cancer. Ann Oncol 2005;16:549-57
   PubMed Web of Science ®Google Scholar
• MDeenen, JTol, AMBurylo, et al. Relationship between single nucleotide polymorphisms and haplotypes in DPYD and toxicity and efficacy of capecitabine in advanced colorectal cancer. Clin Cancer Res 2011;17(10):3455-68
   PubMed Web of Science ®Google Scholar
• DRosmarin, CPalles, APagnamenta, et al. A candidate gene study of capecitabine-related toxicity in colorectal cacner identifies new toxicity variants at DPYD and a putative role for ENOSF1 rather than TYMS. Gut 2015;64:111-20
   PubMed Web of Science ®Google Scholar
• NRibelles, JLopez-Siles, ASanchez, et al. A carboxylesterase 2 gene polymorphism as predictor of capeciatabine on response and time to progression. Curr Drug Metab 2008;9(4):336-43
   PubMed Web of Science ®Google Scholar
• MMartin, NMartinez, MRamos, et al. Standard versus continuous administration of capecitabine in metastatic breast cancer (GEICAM/2009-05): a randomized, noninferiority phase II trial with a pharmacogenetic analysis. Oncologist 2015;20:1-2
   PubMedGoogle Scholar
• IPark, JLLee, MHRyu, et al. Efficacy and safety of S-1 monotherapy in patients with advanced biliary tract adenocarcinoma: retrospective analysis of 162 patients. Oncology 2009;76(2):126-32
   PubMed Web of Science ®Google Scholar
• TSasaki, HIsayama, YYashima, et al. S-1 monotherapy in patients with advanced biliary tract cancer. Oncology 2009;77(1):71-4
   PubMed Web of Science ®Google Scholar
• JGMaring, HJGroen, FMWachters, et al. Genetic factors influencing pyrimidine-antagonist chemotherapy. Pharmacogenomics J 2005;5:226-43
   PubMed Web of Science ®Google Scholar
• TEmura, NSuzuki, MYamaguchi, et al. A novel combination antimetabolite, TAS-102, exhibits antitumor activity in FU-resistant human cancer cells through a mechanism involving FTD incorporation in DNA. Int J Oncol 2004;25(3):571-8
   PubMed Web of Science ®Google Scholar
• TYoshino, NMizunuma, KYamazaki, et al. TAS-102 monotherapy for pretreated metastatic colorectal cancer: a double-blind, randomized, placebo-controlled phase 2 trial. Lancet Oncol 2012;13:993-1001
   PubMed Web of Science ®Google Scholar
• SYLee, HLMcLeod. Pharmacogenetic tests in cancer chemotherapy: what physicians should know for clinical application. J Pathol 2011;223:5-27
   Google Scholar