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Research Article

Dihydropyrimidine Dehydrogenase Gene Variation and Severe 5-Fluorouracil Toxicity: A Haplotype Assessment

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Pages 931-944 | Published online: 17 Jun 2009

Bibliography

  • Ezzeldin H , DiasioRB: Dihydropyrimidine dehydrogenase deficiency, a pharmacogenetic syndrome associated with potentially life-threatening toxicity following 5-fluorouracil administration.Clin. Colorectal Cancer4 , 181–189 (2004).
  • Levy E , PiedboisP, BuyseM et al.: Toxicity of fluorouracil in patients with advanced colorectal cancer: Effect of administration schedule and prognostic factors.J. Clin. Oncol.16 , 3537–3541 (1998).
  • Ezzeldin HH , DiasioRB: Predicting fluorouracil toxicity: can we finally do it?J. Clin. Oncol.26 , 2080–2082 (2008).
  • Soong R , DiasioRB: Advances and challenges in fluoropyrimidine pharmacogenomics and pharmacogenetics.Pharmacogenomics6 , 835–847 (2005).
  • Lim W -T, McLeod HL: Should screening for DPD deficiency be mandatory before 5-FU exposure? Onkologie27 , 531–533 (2004).
  • Morel A , Boisdron-CelleM, FeyL et al.: Clinical relevance of different dihydropyrimidine dehydrogenase gene single nucleotide polymorphisms on 5-fluorouracil tolerance.Mol. Cancer Ther.5 , 2895–2904 (2006).
  • Schwab M , ZangerUM, MarxC 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.26 , 2131–2138 (2008).
  • Pagani F , BaralleFE: Genomic variants in exons and introns: identifying the splicing spoilers.Nat. Rev. Genet.5 , 389–396 (2004).
  • Wang G -S, Cooper TA: Splicing in disease: disruption of the splicing code and the decoding machinery. Nat. Rev. Genet.8 , 749–761 (2007).
  • Horn MP , Mäder-HeinemannG, Andrey-ZürcherG, LargiadèrCR: Mutation screening of the medium-chain acyl-CoA dehydrogenase (MCAD) and the ornithine transcarbamylase (OTC) genes by multiplex PCR.Clin. Chem. Lab. Med.47 , 56–59 (2009).
  • Excoffier L , LavalG, SchneiderS: Arlequin ver. 3.0: an integrated software package for population genetics data analysis.Evol. Bioinform. Online1 , 47–50 (2005).
  • Lewontin RC : The interaction of selection and linkage. I. General considerations; heterotic models.Genetics49 , 49–67 (1964).
  • Hill WG : Estimation of linkage disequilibrium in randomly mating populations.Heredity33 , 229–239 (1974).
  • Rousset F : GENEPOP‘007: a complete re-implementation of the GENEPOP software for Windows and Linux.Mol. Ecol. Resour.8 , 103–106 (2008).
  • Excoffier L , EstoupA, Cornuet J-M: Gametic phase estimation over large genomic regions using an adaptive window approach. Hum. Genomics1 , 7–19 (2003).
  • Benjamini Y , HochbergY: Controlling the false discovery rate – a practical and powerful approach to multiple testing.J. R. Stat. Soc. Ser. B.57 , 289–300 (1995).
  • Seck K , RiemerS, KatesR et al.: Analysis of the DPYD gene implicated in 5-fluorouracil catabolism in a cohort of Caucasian individuals.Clin. Cancer Res.11 , 5886–5892 (2005).
  • Ezzeldin H , OkamotoY, JohnsonMR, DiasioRB: A high-throughput denaturing high-performance liquid chromatography method for the identification of variant alleles associated with dihydropyrimidine dehydrogenase deficiency.Anal. Biochem.306 , 63–73 (2002).
  • Zuccato E , BurattiE, StuaniC, BaralleFE, PaganiF: An intronic polypyrimidine-rich element downstream of the donor site modulates cystic fibrosis transmembrane conductance regulator exon 9 alternative splicing.J. Biol. Chem.279 , 16980–16988 (2004).
  • Hegde S , LenoxLE, LariviereA et al.: An intronic sequence mutated in flexed-tail mice regulates splicing of Smad5.Mamm. Genome18 , 852–860 (2007).
  • Estivill X , BancellsC, Ramos C; Consortium BCMA: Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. Hum. Mutat.10 , 135–154 (1997).
  • van Kuilenburg ABP , MeinsmaR, ZoetekouwL, GennipAHV: High prevalence of the IVS14+ 1G>A mutation in the dihydropyrimidine dehydrogenase gene of patients with severe 5-fluorouracil-associated toxicity.Pharmacogenetics12 , 555–558 (2002).
  • Magné N , Etienne-Grimaldi M-C, Cals L et al.: Dihydropyrimidine dehydrogenase activity and the IVS14+1G>A mutation in patients developing 5FU-related toxicity. Br. J. Clin. Pharmacol.64 , 237–240 (2007).
  • Collie-Duguid ES , JohnstonSJ, PowrieRH et al.: Cloning and initial characterization of the human DPYD gene promoter.Biochem. Biophys. Res. Commun.271 , 28–35 (2000).
  • Johnson MR , WangK, DiasioRB: Profound dihydropyrimidine dehydrogenase deficiency resulting from a novel compound heterozygote genotype.Clin. Cancer Res.8 , 768–774 (2002).
  • Ezzeldin HH , LeeAM, MattisonLK, DiasioRB: Methylation of the DPYD promoter: an alternative mechanism for dihydropyrimidine dehydrogenase deficiency in cancer patients.Clin. Cancer Res.11 , 8699–8705 (2005).
  • Amstutz U , FareseS, AebiS, LargiadèrCR: Hypermethlyation of the DPYD promoter region is not a major pedictor of severe toxicity in 5-fluorouracil based chemotherapy.J. Exp. Clin. Cancer Res.27 , 54 (2008).
  • Ciccolini J , MercierC, EvrardA et al.: A rapid and inexpensive method for anticipating severe toxicity to fluorouracil and fluorouracil-based chemotherapy.Ther. Drug Monit.28 , 678–685 (2006).

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