Rapid detection of the DPYD IVS14+1G>A mutation for screening patients to prevent fluorouracil-related toxicity

Molecular Diagnosis and Therapy

Volumn 11, Issue 2, 2007, Pages 105-108

  Bosch, Tessa M ^a,d   Bakker, Remko ^a   Schellens, Jan H M ^b,c   Cats, Annemieke ^b   Smits, Paul H M ^a   Beijnen, Jos H ^a,c  

^a SLOTERVAART HOSPITAL   (Netherlands)

^b ANTONI VAN LEEUWENHOEK HOSPITAL   (Netherlands)

^c UTRECHT UNIVERSITY   (Netherlands)

^d NONE   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

CAPECITABINE; DIHYDROPYRIMIDINE DEHYDROGENASE; FLUOROURACIL;

ARTICLE; CONTROLLED STUDY; DIARRHEA; DNA SEQUENCE; FEBRILE NEUTROPENIA; GENE MUTATION; HIGH THROUGHPUT SCREENING; HUMAN; MAJOR CLINICAL STUDY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCREENING TEST; STOMATITIS;

EID: 34147096510     PISSN: 11771062     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF03256229     Document Type: Article

References (13)

1. Diasio RB, Harris BE. Clinical pharmacology of 5-fluorouracil. Clin Pharmacokinet 1989 Apr; 16 (4): 215-37
2. Daher GC, Harris BE, Diasio RB. Metabolism of pyrimidine analogues and their nucleosides. Pharmacol Ther 1990; 48 (2): 189-222
3. Meinsma R, Fernandez-Salguero P, van Kuilenburg AB, et al. Human polymorphism in drug metabolism: mutation in the dihydropyrimidine dehydrogenase gene results in exon skipping and thymine uracilurea. DNA Cell Biol 1995 Jan; 14 (1): 1-6
4. Mattison LK, Soong R, Diasio RB. Implications of dihydropyrimidine dehydrogenase on 5-fluorouracil pharmacogenetics and pharmacogenomics. Pharmacogenomics 2002 Jul; 3 (4): 485-92
5. McLeod HL, King CR, Marsh S. Application of pharmacogenomics in the individualization of chemotherapy for gastrointestinal malignancies. Clin Colorectal Cancer 2004 Jun; 4 Suppl. 1: S43-7
6. Etienne MC, Lagrange JL, Dassonville O, et al. Population study of dihydropyrimidine dehydrogenase in cancer patients. J Clin Oncol 1994 Nov; 12 (11): 2248-53
7. van Kuilenburg AB. Dihydropyrimidine dehydrogenase and the efficacy and toxicity of 5-fluorouracil. Eur J Cancer 2004 May; 40 (7): 939-50
8. van Kuilenburg AB, Meinsma R, Zoetekouw L, et al. High prevalence of the IVS14+1G>A mutation in the dihydropyrimidine dehydrogenase gene of patients with severe 5-fluorouracil-associated toxicity. Pharmacogenetics 2002 Oct; 12 (7): 555-8
9. Raida M, Schwabe W, Hausler P, et al. Prevalence of a common point mutation in the dihydropyrimidine dehydrogenase (DPD) gene within the 5′-splice donor site of intron 14 in patients with severe 5-fluorouracil (5-FU)-related toxicity compared with controls. Clin Cancer Res 2001 Sep; 7 (9): 2832-9
10. Bosch TM, Doodeman VD, Smits PHM, et al. Pharmacogenetic screening for polymorphisms in drug-metabolising enzymes and drug transporters in a Dutch population. Mol Diagn Ther 2006; 10 (3): 175-85
11. van Kuilenburg AB, Muller EW, Haasjes J, et al. Lethal outcome of a patient with a complete dihydropyrimidine dehydrogenase (DPD) deficiency after administration of 5-fluorouracil: frequency of the common IVS14+1G>A mutation causing DPD deficiency. Clin Cancer Res 2001 May; 7 (5): 1149-53
12. Wei X, Elizondo G, Sapone A, et al. Characterization of the human dihydropyrimidine dehydrogenase gene. Genomics 1998 Aug 1; 51 (3): 391-400
13. van Kuilenburg AB, Vreken P, Abeling NG, et al. Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency. Hum Genet 1999; 104 (1): 1-9