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Statements

Subject Item
n2:RIV%2F00216208%3A11110%2F09%3A4545%21RIV10-MZ0-11110___
rdf:type
n16:Vysledek skos:Concept
dcterms:description
Alterations in dihydropyrimidine dehydrogenase gene (DPYD) coding for the key enzyme (DPD) of fluoropyrimidines (FPs) catabolism contribute to the development of serious FPs-related toxicity. We performed mutation analysis of DPYD based on cDNA sequencing in 76 predominantly colorectal cancer patients treated by FPs with early development of high (grade 3-4) hematological and/or gastrointestinal toxicity. Six previously described [85T>C (C29R), 496A>G (M166V), 775A>G (K259E), 1601G>A (S534N), 1627A>G (I543V), IVS14+1G>A, 2194G>A (V732I)] and two novel [187A>G (K63E) and 1050 G>A (R357H)] non-synonymous DPYD variants were found in 56/76 (73.7%) high-toxicity patients. Subsequently, these alterations were analyzed in 48 patients with excellent long-term tolerance of FPs and in 243 controls and were detected in 37/48 (77.1%) and 166/243 (68.3%) cases, respectively. Analysis of these alterations as risk factors for development of toxicity in pooled FPs-treated population demonstrated that C29R negatively Alterations in dihydropyrimidine dehydrogenase gene (DPYD) coding for the key enzyme (DPD) of fluoropyrimidines (FPs) catabolism contribute to the development of serious FPs-related toxicity. We performed mutation analysis of DPYD based on cDNA sequencing in 76 predominantly colorectal cancer patients treated by FPs with early development of high (grade 3-4) hematological and/or gastrointestinal toxicity. Six previously described [85T>C (C29R), 496A>G (M166V), 775A>G (K259E), 1601G>A (S534N), 1627A>G (I543V), IVS14+1G>A, 2194G>A (V732I)] and two novel [187A>G (K63E) and 1050 G>A (R357H)] non-synonymous DPYD variants were found in 56/76 (73.7%) high-toxicity patients. Subsequently, these alterations were analyzed in 48 patients with excellent long-term tolerance of FPs and in 243 controls and were detected in 37/48 (77.1%) and 166/243 (68.3%) cases, respectively. Analysis of these alterations as risk factors for development of toxicity in pooled FPs-treated population demonstrated that C29R negatively
dcterms:title
Influence of dihydropyrimidine dehydrogenase gene (DPYD) coding sequence variants on the development of fluoropyrimidine-related toxicity in patients with high-grade toxicity and patients with excellent tolerance of fluoropyrimidine-based chemotherapy Influence of dihydropyrimidine dehydrogenase gene (DPYD) coding sequence variants on the development of fluoropyrimidine-related toxicity in patients with high-grade toxicity and patients with excellent tolerance of fluoropyrimidine-based chemotherapy
skos:prefLabel
Influence of dihydropyrimidine dehydrogenase gene (DPYD) coding sequence variants on the development of fluoropyrimidine-related toxicity in patients with high-grade toxicity and patients with excellent tolerance of fluoropyrimidine-based chemotherapy Influence of dihydropyrimidine dehydrogenase gene (DPYD) coding sequence variants on the development of fluoropyrimidine-related toxicity in patients with high-grade toxicity and patients with excellent tolerance of fluoropyrimidine-based chemotherapy
skos:notation
RIV/00216208:11110/09:4545!RIV10-MZ0-11110___
n3:aktivita
n10:P
n3:aktivity
P(1A8708)
n3:cisloPeriodika
4
n3:dodaniDat
n11:2010
n3:domaciTvurceVysledku
n5:7306539 n5:1456695 n5:5825156 n5:3407306 n5:2973278 n5:7228848
n3:druhVysledku
n6:J
n3:duvernostUdaju
n18:S
n3:entitaPredkladatele
n9:predkladatel
n3:idSjednocenehoVysledku
319193
n3:idVysledku
RIV/00216208:11110/09:4545
n3:jazykVysledku
n14:eng
n3:klicovaSlova
5FU; DPYD; toxicity; cancer; sequence variants; SNPs
n3:klicoveSlovo
n8:sequence%20variants n8:cancer n8:toxicity n8:SNPs n8:DPYD n8:5FU
n3:kodStatuVydavatele
SK - Slovenská republika
n3:kontrolniKodProRIV
[91DB28B765B0]
n3:nazevZdroje
Neoplasma
n3:obor
n12:EB
n3:pocetDomacichTvurcuVysledku
6
n3:pocetTvurcuVysledku
8
n3:projekt
n15:1A8708
n3:rokUplatneniVysledku
n11:2009
n3:svazekPeriodika
56
n3:tvurceVysledku
Novotný, Jan Fidlerová, Julie Boušková, Kristina Kleiblová, Petra Bílek, Matěj Kormunda, Stanislav Kleibl, Zdeněk Ševčík, Jan
n3:wos
000271991100005
s:issn
0028-2685
s:numberOfPages
14
n7:organizacniJednotka
11110