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Review

Pharmacogenetics of cytotoxic drugs

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Pages 301-308 | Published online: 10 Jan 2014

References

  • Gibson GG, Skett P Introduction to Drug-Metabolism (Second Edition). Blackie, London, UK, (1994).
  • Ingelman-Sundberg M, Oscarson M, McLellan RA. Polymorphic human cytochrome P450 enzymes: an opportunity for individualized drug treatment. Trends Pharmacol Sci. 20, 342–349 (1999). This review contains up-to-date background material on the pharmacogenetics of cytochromes P450.
  • Felix CA, Walker AH, Lange BJ et al. Association of CYP3A4 genotype with treatment-related leukemia. Proc. Natl Acad. Sci. USA 95,13176–13181 (1998).
  • Ball SE, Scatina JA, Kao J et al. Population distribution and effects on drug metabolism of a genetic variant in the 5-promotor region of CYP3A4. Gun. Pharmacol Tiler. 66,288-294 (1999).
  • Kuehl P, Zhang J, Lin Y et al Sequence diversity in CYP3A promoters and characterization of the genetic basis of polymorphic CYP3A5 expression. Nature Genet. 27,383–391 (2001).
  • Boddy AV, Yule SM. Metabolism and pharmacokinetics of oxazaphosphorines. Clin. Pharmacokinet. 38, 291–304 (2000).
  • •Up-to-date review on metabolism of oxazaphosphorines.
  • Roy P, Yu LJ, Crespi CL, Waxman DJ. Development of a substrate-activity based approach to identify the major human liver P450 catalysts of cyclophosphamide and ifosfamide activation based on cDNA-expressed activities and liver microsomal P450 profiles. Drug Metab. Dispos. 27, 655–666 (1999).
  • Huang ZQ, Roy P, Waxman DJ. Role of human liver microsomal CYP3A4 and CYP2B6 in catalyzing N-dechloroethylation of cyclophosphamide and ifosfamide. Biochem. Pharmacol 59, 961–972 (2000).
  • Code EL, Crespi CL, Penman BW, Gonzalez FJ, Chang TKH, Waxman DJ. Human cytochrome P4502B6 - Interindividual hepatic expression, substrate specificity and role in procarcinogen activation. Drug- Metab. Dispos. 25, 985–993 (1997).
  • Ariyoshi N, Miyazaki M, Toide K, Sawamura Y, Kamataki T A single nucleotide polymorphism of CYP2B6 found in Japanese enhances catalytic activity by autoactivation. Biochem. Biophys. Res. Commun. 281, 1256–1260 (2001).
  • Lang T, Klein K, Fischer J et al Extensive genetic polymorphism in the human CYP2B6 gene with impact on expression and function in human liver. Pharmacogenetirs 11, 399–415 (2001).
  • Miners JO, Birkett DJ. Cytochrome P4502C9: an enzyme of major importance in human drug metabolism. BE j Clin. Pharmacol 45, 525–538 (1998).
  • Chang TKH, Yu L, Goldstein JA, Waxman DJ. Identification of the polymorphically expressed CYP2C19 and the wild-type CYP2C9-11e359 allele as low-Km catalysts of cyclophosphamide and ifosfamide activation. Pharmacogenetics 7,211–221 (1997).
  • Sonnichsen DS, Liu Q, Schuetz EG, Schuetz JD, Pappo A, Relling MV. Variability in human cytochrome P450 paclitaxel metabolism. j Phalmacol Exper. Tberap. 275, 566–575 (1995).
  • Dai D. Allelic frequencies of human CYP2C8 and genetic linkage among different ethnic populations. EASE B J. 15, A575—A575 (2001).
  • Rees HC, McSorley LC, Daly AK. A novel polymorphism in the cytochrome P450 CYP2C8. /SSXProc. 14,72 (1999).
  • Gonzalez FJ, Fernandez-Salguero P Diagnostic-analysis, clinical importance and molecular-basis of dihydropyrimidine dehydrogenase-deficiency. Trends Phalmacol Sc]. 16,325–327 (1995).
  • Collie-Duguid ESR, Etienne MC, Milano G, McLeod HL. Known variant DPYD alleles do not explain DPD deficiency in cancer patients. Pharmacogenetics 10,217–223 (2000).
  • van Kuilenburg ABP, Haasjes J, Richel DJ et al Clinical implications of dihydropyrimidine dehydrogenase (DPD) deficiency in patients with severe 5-fluorouracil-associated toxicity: Identification of new mutations in the DPD gene. Clin. Cancer Res. 6,4705-4712 (2000).
  • Wormhoudt LW, Commandeur JNM, Vermeulen NPE. Genetic polymorphisms of human N-acetyltransferase, cytochrome P450, glutathione-S-transferase and epoxide hydrolase enzymes: Relevance to xenobiotic metabolism and toxicity. Grit. Rev. Toxicol 29,59–124 (1999).
  • Hall AG, Autzen P, Caftan AR et al Expression of µ-class glutathione-S-transferase correlates with event-free survival in childhood acute lymphoblastic leukemia. Cancer Res. 54,5251–5254 (1994).
  • Davies SM, Robison LL, Buckley JD et al. Glutathione S-transferase polymorphisms and outcome of chemotherapy in childhood acute myeloid leukemia. j Clin. Oncol 19,1279–1287 (2001).
  • Kearns PR, Hall AG. Glutathione and the response of malignant cells to chemotherapy. Drug- Discovery Tod. 3,113–121 (1998).
  • Zimniak P, Nanduri B, Pikula S etal. Naturally-occurring human glutathione-S-transferase GSTP1-1 isoforms with isoleucine and valine in position-104 differ in enzymatic-properties. Eur. j Biochem. 224,893-899 (1994).
  • Weinshilboum R. Methyltransferase pharmacogenetics. Pharmacol Therap. 43, 77–90 (1989).
  • Collie-Duguid ESR, Pritchard SC, Powrie RII eta]. The frequency and distribution ofthiopurine methyltransferase alleles in Caucasian and Asian populations. Phalmacogenetics9, 37–42 (1999).
  • Lennard L, Gibson BES, Nicole T, Lilleyman JS. Congenital thiopurine methyltransferase deficiency and 6-mercaptopurine toxicity during treatment for acute lymphoblastic leukemia. Arch. Dis. Child. 69,577-579 (1993).
  • Krynetski EY, Schuetz JD, Galpin AJ, Pui CH, Relling MV, Evans WE. A single point mutation leading to loss of catalytic activity in human thiopurine 5-methyltransferase. Proc. Natl Acad. Sci. USA 92,949–953 (1995).
  • Szumlanski C, Otterness D, Her C etal. Thiopurine methyltransferase pharmacogenetics: Human gene cloning and characterization of a common polymorphism. DNA Cell Biol. 15,17–30 (1996).
  • McLeod HL, Krynetski EY, Relling MV, Evans WE. Genetic polymorphism of thiopurine methyltransferase and its clinical relevance for childhood acute lymphoblastic leukemia. Leukemia 14, 567–572 (2000).
  • Relling MV, Hancock ML, Rivera GK et al. Mercaptopurine therapy intolerance and heterozygosity at the thiopurine 5-methyltransferase gene locus. j Natl Cancer Inst. 91,2001-2008 (1999).
  • •Recent paper that clearly demonstrates the importance of TPMT genotype in response to 6-mercaptoptuine treatment.
  • Evans WE, Hon YY, Bomgaars L etal. Preponderance of thiopurine 5-methyltransferase deficiency and heterozygosity among patients intolerant to mercaptopurine or azathioprine. j Clin. Oncol 19,2293–2301 (2001).
  • Relling MV, Rubnitz JE, Rivera GK et al High incidence of secondary brain tumours after radiotherapy and antimetabolites. Lancet354, 34–39 (1999).
  • Iyer L, King CD, Whitington PP et al. Genetic predisposition to the metabolism of irinotecan (CPT-11) - Role of uridine diphosphate glucuronosyltransferase isoform 1A1 in the glucuronidation of its active metabolite (SN-38) in human liver microsomes. j Clin. Invest. 101,847-854 (1998).
  • Monaghan G, Ryan M, Seddon R, Hume R, Burchell B. Genetic variation in bilirubin UDP-glucuronosyltransferase gene promoter and Gilbert's syndrome. Lancet347, 578–581 (1996).
  • Aono S, Adachi Y, Uyama E eta]. Analysis of Genes for bilirubin udp-glucuronosyltransferase in Gilbert's syndrome. Lancet 345,958–959 (1995).
  • Ando Y, Saka H, Ando M et at. Polymorphisms of UDP- glucuronosyltransferase gene and irinotecan toxicity: A pharmacogenetic analysis. Cancer Res. 60,6921–6926 (2000).
  • O'Brien S, Benvenuto JA, Estey E, Beran M, Felder TB, Keating M. Phase-I clinical investigation of benzisoquinolinedione (amonafide) in adults with refractory or relapsed acute-leukemia. Cancer Res. 51, 935–938 (1991).
  • Innocenti F, Iyer L, Ratain MJ. Pharmacogenetics of anticancer agents: lessons from amonafide and irinotecan. Drug Metab. Dispos. 29,596-600 (2001).
  • Klein I, Sarkadi B, Varadi A. An inventory of the human ABC proteins. Biochim.Biophys. Acta 1461,237–262 (1999).
  • Hoffmeyer S, Burk 0, von Richter 0 et al. Functional polymorphisms of the human multidrug-resistance gene: Multiple sequence variations and correlation of one allele with P-glycoprotein expression and activity in vivo. Proc. Natl Acad. Li. USA 97,3473–3478 (2000).
  • Ito S, Ieiri I, Tanabe M, Suzuki A, Higuchi S, Otsubo K. Polymorphism of the ABC transporter genes, MDR1, MRP1 and MRP2/cMOAT, in healthy Japanese subjects. Pharmacogeneticsll, 175–184 (2001).
  • Golub TR, Slonim DK, Tamayo P et al. Molecular classification of cancer: Class discovery and class prediction by gene expression monitoring. Science 286,531–537 (1999).
  • ••Key reference on use of microarraytechniques for tumor classification.
  • Alizadeh AA. Distinct types of diffuse large B-cell lymphoma identified by gene expression profiling. Nature 403,503–511 (2000).
  • Esteller M, Garcia-Foncillas J, Andion E et al. Inactivation of the DNA-repair gene MGMT and the clinical response of gliomas to alkylating agents. N Engl. Med. 343,1350–1354 (2000).
  • Roses AD. Pharmacogenetics and future drug development and delivery. Lancet355, 1358–1361 (2000).
  • •Review on personalized prescribing.
  • Lai E. Application of SNP technologies in medicine: Lessons learned and future challenges. Genome Res. 11,927–929 (2001).
  • Risch NJ. Searching for genetic determinants in the new millennium. Nature 405,847–856 (2000).
  • Weiss KM, Terwilliger JD. How many diseases does it take to map a gene with SNPs? Nature Genet. 26,151–157 (2000).
  • •Review on potential limitations of SNP mapping.
  • Coulthard SA, Rabello C, Robson J eta] A comparison of molecular and enzyme-based assays for the detection of thiopurine methyltransferase mutations. BE J. .thematol 110,599–604 (2000).
  • Shi MM. Enabling large-scale pharmacogenetic studies by high-throughput mutation detection and genotyping technologies. Clin. Chem. 47, 164–172 (2001).
  • Xie H-G, Kim RB, Wood All, Stein CM. Molecular basis of ethnic differences in drug disposition and response. Ann. Rev Pharmacol Toxicol 41,815–850 (2001).
  • Sata F, Sapone A, Elizondo G et aL CYP3A4 allelic variants with amino acid substitutions in exons 7 and 12: Evidence for an allelic variant with altered catalytic activity. Gun. Phalmacol Ther. 67,48-56 (2000).
  • Hsieh KP, Lin YY, Cheng CL et aL Novel mutations of CYP3A4 in Chinese. Drug Metab. Dispos. 29,268-273 (2001).
  • Eiselt R, Domanski TL, Zibat A et al. Identification and functional characterization of eight CYP3A4 protein variants. Phalmacogenetics 11, 447–458 (2001). Websites
  • http:Hdrnelson.utmem.edui CytochromeP450.html
  • www.imm.ki.se/CYPalleles/
  • •Website giving most up-to-date information on cytoclu-ome P450 allelic variants.

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