High prevalence of the IVS14+1G>A mutation in the dihydropyrimidine dehydrogenase gene of patients with severe 5-fluorouracil-associated toxicity
作者： Andre Van Kuilenburg , Rutger Meinsma , Lida Zoetekouw , Albert Van Gennip
DOI: 10.1097/00008571-200210000-00007
关键词:
摘要: Dihydropyrimidine dehydrogenase (DPD) is the initial and rate-limiting enzyme in catabolism of 5-fluorouracil (5FU) a DPD deficiency increasingly being recognized as an important pharmacogenetic factor aetiology severe 5FU-associated toxicity. In this study, we evaluated
narcis.nl参考文章(16)
Romano Danesi, Filippo De Braud, Stefano Fogli, Antonello Di Paolo, Mario Del Tacca, Pharmacogenetic determinants of anti-cancer drug activity and toxicity Trends in Pharmacological Sciences. ,vol. 22, pp. 420- 426 ,(2001) , 10.1016/S0165-6147(00)01742-9
Jason Lazarou, Bruce H. Pomeranz, Paul N. Corey, Incidence of Adverse Drug Reactions in Hospitalized Patients: A Meta-analysis of Prospective Studies JAMA. ,vol. 279, pp. 1200- 1205 ,(1998) , 10.1001/JAMA.279.15.1200
P. Vreken, A. B. P. Van Kuilenburg, R. Meinsma, G. P. A. Smit, H. D. Bakker, R. A. De Abreu, A. H. van Gennip, A point mutation in an invariant splice donor site leads to exon skipping in two unrelated Dutch patients with dihydropyrimidine dehydrogenase deficiency. Journal of Inherited Metabolic Disease. ,vol. 19, pp. 645- 654 ,(1996) , 10.1007/BF01799841
Xiaoxiong Wei, Guillermo Elizondo, Andrea Sapone, Howard L. McLeod, Hannu Raunio, Pedro Fernandez-Salguero, Frank J. Gonzalez, Characterization of the Human Dihydropyrimidine Dehydrogenase Gene Genomics. ,vol. 51, pp. 391- 400 ,(1998) , 10.1006/GENO.1998.5379
J G Maring, A B P van Kuilenburg, J Haasjes, H Piersma, H J M Groen, D R A Uges, A H Van Gennip, E G E De Vries, Reduced 5-FU clearance in a patient with low DPD activity due to heterozygosity for a mutant allele of the DPYD gene. British Journal of Cancer. ,vol. 86, pp. 1028- 1033 ,(2002) , 10.1038/SJ.BJC.6600208
André B.P. Van Kuilenburg, Rutger Meinsma, Lida Zoetekouw, Albert H. Van Gennip, 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 International Journal of Cancer. ,vol. 101, pp. 253- 258 ,(2002) , 10.1002/IJC.10599
E. S.R. Collie-Duguid, M. C. Etienne, G. Milano, H. L. McLeod, Known variant DPYD alleles do not explain DPD deficiency in cancer patients. Pharmacogenetics. ,vol. 10, pp. 217- 223 ,(2000) , 10.1097/00008571-200004000-00002
R B Diasio, T L Beavers, J T Carpenter, Familial deficiency of dihydropyrimidine dehydrogenase. Biochemical basis for familial pyrimidinemia and severe 5-fluorouracil-induced toxicity. Journal of Clinical Investigation. ,vol. 81, pp. 47- 51 ,(1988) , 10.1172/JCI113308
A. B. P. Van Kuilenburg, P. Vreken, N. G. G. M. Abeling, H. D. Bakker, R. Meinsma, H. Van Lenthe, R. A. De Abreu, J. A. M. Smeitink, H. Kayserili, M. Y. Apak, E. Christensen, I. Holopainen, K. Pulkki, D. Riva, G. Botteon, E. Holme, M. Tulinius, W. J. Kleijer, F. A. Beemer, M. Duran, K. E. Niezen-Koning, G. P. A. Smit, C. Jakobs, L. M. E. Smit, U. Moog, L. J. M. Spaapen, A. H. Van Gennip, Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency. Human Genetics. ,vol. 104, pp. 1- 9 ,(1999) , 10.1007/PL00008711
Susan A. Ridge, Julieann Sludden, Oliver Brown, Leigh Robertson, Xiaoxiong Wei, Andrea Sapone, Pedro M. Fernandez‐Salguero, Frank J. Gonzalez, Peter Vreken, Andre BP Van Kuilenburg, Albert H. Van Gennip, Howard L. McLeod, Dihydropyrimidine dehydrogenase pharmacogenetics in Caucasian subjects British Journal of Clinical Pharmacology. ,vol. 46, pp. 151- 156 ,(1998) , 10.1046/J.1365-2125.1998.00751.X