Heterozygosity for a point mutation in an invariant splice donor site of dihydropyrimidine dehydrogenase and severe 5-fluorouracil related toxicity

Advances in Experimental Medicine and Biology

Volumn 431, Issue , 1998, Pages 293-298

  Van Kuilenburg, André B P ^a   Vreken, Peter ^a   Beex, Louk V A M ^b   Meinsma, Rutger ^a   Van Lenthe, Henk ^a   De Abreu, Ronney A ^b   Van Gennip, Albert H ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

DIHYDROPYRIMIDINE DEHYDROGENASE; FLUOROURACIL; PAMIDRONIC ACID; TAMOXIFEN;

ADULT; BLOOD TOXICITY; BREAST CANCER; CANCER CHEMOTHERAPY; CARDIOTOXICITY; CASE REPORT; CONFERENCE PAPER; CONTROLLED STUDY; ENZYME DEFICIENCY; FEMALE; GASTROINTESTINAL TOXICITY; HETEROZYGOSITY; HUMAN; HUMAN CELL; INTRAVENOUS DRUG ADMINISTRATION; POINT MUTATION; PRIORITY JOURNAL;

EID: 0031836751     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-1-4615-5381-6_58     Document Type: Article

References (9)

1. Diasio, R.B., Beavers, T.L. and Carpenter, J.T. (1988) Familial Deficiency of Dihydropyrimidine Dehydrogenase. Biochemical Basis for Familial Pyrimidinemia and Severe 5-Fluorouracil-induced Toxicity. J. Clin. Invest. 81, 47-51.
2. Lu, Z., Zhang, R. and Diasio, R.B. (1993) 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. 53, 5433-5438.
3. Fernandez-Salguero, P., Gonzalez, F.J., Etienne, M.C., Milano, G. and Kimura, S. (1995) Correlation between catalytic activity and protein content for the polymorphically expressed dihydropyrimidine dehydrogenase in human lymphocytes. Biochem. Pharmacol. 50, 1015-1020.
4. Van Kuilenburg, A.B.P., Van Lenthe, H. and Van Gennip, A.H. (1996) Identification and Tissue- Specific Expression of a NADH-Dependent Activity of Dihydropyrimidine Dehydrogenase in Man. Anticancer Res. 16, 389-394.
5. Meinsma, R., Fernandez-Salguero, P., Van Kuilenburg, A.B.P., Van Gennip, A.H. and Gonzalez, F.J. (1995) Human Polymorphism in Drug Metabolism: Mutation in the Dihydropyrimidine Dehydrogenase Gene Results in Exon Skipping and Thymine Uraciluria. DMA Cell Biol. 14, 1-6.
6. Vreken, P., Van Kuilenburg, A.B.P., Meinsma, R., Smit, G.P.A., Bakker, H.D., De Abreu, R.A. and Van Gennip AH. (1996) A point mutation in an invariant splice donor site leads to exon skipping in two unrelated Dutch patients with dihydropyrimidine dehydrogenase deficiency. J. Inher. Metab. Dis. 19, 645-654.
7. Perlin, E. and Ahlgren, J.D. (1991) Pigmentary Effects from the Protracted Infusion of 5-Fluorouracil. Int. J. Dermatol. 30, 43-44.
8. Freeman, N.J. and Costanza, M.E. (1988) 5-Fluorouracil-Associated Cardiotoxicity. Cancer 61, 36-45.
9. Keefe, D.L., Roistacher, N. and Pierri, M.K. (1993) Clinical Cardiotoxicity of 5-Fluorouracil. J. Clin. Pharmacol. 33, 1060-1070.