Page 18 - Personalised medicine of fluoropyrimidines using DPYD pharmacogenetics Carin Lunenburg

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dehydrogenase activities in human tissues using 5-fluorouracil as a substrate. Anticancer Res.
1986;6(4):781-784.
19. Grem JL, Yee LK, Venzon DJ, Takimoto CH, Allegra CJ. Inter- and intraindividual variation in
dihydropyrimidine dehydrogenase activity in peripheral blood mononuclear cells. Cancer
Chemother Pharmacol. 1997;40(2):117-125.
20. Harris BE, Song R, Soong SJ, Diasio RB. Relationship between dihydropyrimidine dehydrogenase
activity and plasma 5-fluorouracil levels with evidence for circadian variation of enzyme activity and plasma drug levels in cancer patients receiving 5-fluorouracil by protracted continuous infusion. Cancer Res. 1990;50(1):197-201.
21. Van Kuilenburg ABP, Meinsma R, Zoetekouw L, Van Gennip AH. Increased risk of grade IV neutropenia after administration of 5-fluorouracil due to a dihydropyrimidine dehydrogenase deficiency: high prevalence of the IVS14+1g>a mutation. Int J Cancer. 2002;101(3):253-258.
22. Milano G, Etienne MC, Pierrefite V, Barberi-Heyob M, Deporte-Fety R, Renee N. Dihydropyrimidine dehydrogenase deficiency and fluorouracil-related toxicity. Br J Cancer. 1999;79(3-4):627-630.
23. Etienne MC, Lagrange JL, Dassonville O, et al. Population study of dihydropyrimidine dehydrogenase in cancer patients. J Clin Oncol. 1994;12(11):2248-2253.
24. Lu Z, Zhang R, Diasio RB. 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):5433-5438.
25. Mattison LK, Fourie J, Desmond RA, Modak A, Saif MW, Diasio RB. Increased prevalence of dihydropyrimidine dehydrogenase deficiency in African-Americans compared with Caucasians. Clinical Cancer Research. 2006;12(18):5491-5495.
26. Diasio RB, Beavers TL, Carpenter JT. Familial deficiency of dihydropyrimidine dehydrogenase. Biochemical basis for familial pyrimidinemia and severe 5-fluorouracil-induced toxicity. J Clin Invest. 1988;81(1):47-51.
27. Johnson MR, Diasio RB. Importance of dihydropyrimidine dehydrogenase (DPD) deficiency in patients exhibiting toxicity following treatment with 5-fluorouracil. Adv Enzyme Regul. 2001;41:151-157.
28. van Kuilenburg AB, 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. 2000;6(12):4705-4712.
29. McLeod HL, Collie-Duguid ESR, Vreken P, et al. Nomenclature for human DPYD alleles. Pharmacogenetics. 1998;8(6):455-459.
30. NCBI. National Center for Biotechnology Information. DPYD dihydropyrimidine dehydrogenase [Homo sapiens (human)]. Gene 2017; https://www.ncbi.nlm.nih.gov/gene/1806. Accessed October 31st, 2017.
31. Toffoli G, Giodini L, Buonadonna A, et al. Clinical validity of a DPYD-based pharmacogenetic test to predict severe toxicity to fluoropyrimidines. Int J Cancer. 2015;137(12):2971-2980.
32. Offer SM, Fossum CC, Wegner NJ, Stuflesser AJ, Butterfield GL, Diasio RB. Comparative functional analysis of DPYD variants of potential clinical relevance to dihydropyrimidine dehydrogenase activity. Cancer Res. 2014;74(9):2545-2554.
33. NCBI. National Center for Biotechnology Information. dbSNP Short Genetic Variations - DPYD. Gene 2018; https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=1806. Accessed June 7th
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