Results We analysed 638 requests for DPYD gene determination, mean age was 62.65 卤 12.58 years, and 52.98% were men. Thirty-two (5,0%) had some mutation in the DPYD gene. Four (0,6%) patients were heterozygous for the loss-of-function variant c.1905 + 1G> A and one (0,16%) ...
Mutation 1 Gene: DPYD*4 WT AA Change: p.S534N DNA Change: NM_000110.4:c.1601G>A Chr position (GRCh38): chr1:97515865 G>A Allelic Frequency: 0% Zygosity: Wlid Type Mutation 2 Gene: DPYD*9 WT AA Change: p.C29R ...
Discovery of novel mutations in the dihydropyrimidine dehydrogenase gene associated with toxicity of fluoropyrimidines and viewpoint on preemptive pharmacogenetic screening in patients Article Open access 02 September 2015 A systematic review and meta-analysis of toxicity and treatment outcomes with pharma...
A mutation at codon 974 of the dihydropyrimidine dehydrogenase (DPD) gene was previously described in a cancer patient with undetectable DPD enzyme activit... S,A,Ridge,... - 《British Journal of Cancer》 被引量: 23发表: 1997年 A novel large intragenic DPYD deletion causing dihydropyrimidine...
A mutation at codon 974 of the dihydropyrimidine dehydrogenase (DPD) gene was previously described in a cancer patient with undetectable DPD enzyme activity who experienced severe toxicity when treated with 5-fluorouracil. We have studied the frequency of this mutation in 29 Scottish subjects with lo...
A high-throughput mutation analysis of the coding region and the flanking intronic regions of the DPYD gene were performed by DHPLC. Twelve different variant alleles were found in 106 healthy Tunisian volunteers (212 chromosomes). Eighty-six alleles were identical with the reference sequence and were...
[6]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[J].Clin Cancer Res,2001,7:2832-2839...
To date, a direct correlation between DPYD gene mutation and decreased 5-FU clearance has only been suggested but never been proven. In this study, we provide the first detailed analysis of 5-FU pharmacoki- netics in a patient with low DPD-activity due to heterozygosity for a mutant allele...
High-resolution melting analysis of the common c.1905+1G>A mutation causing dihydropyrimidine dehydrogenase deficiency and lethal 5-fluorouracil toxicity Front Genet, 3 (2013), p. 312 Google Scholar 13 U. Amstutz, T.K. Froehlich, C.R. Largiadèr Dihydropyrimidine dehydrogenase gene as a major ...
(CDx) to identify patients who may benefit from treatment with the targeted therapies listed in the Companion Diagnostic Indications table in accordance with the approved therapeutic product labeling. Additionally, xT CDx is intended to provide tumor mutation profiling to be used by qualified health ...