About: Contribution of dihydropyrimidinase gene alterations to the development of serious toxicity in fluoropyrimidine-treated cancer patients.

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About: Contribution of dihydropyrimidinase gene alterations to the development of serious toxicity in fluoropyrimidine-treated cancer patients. Goto Sponge NotDistinct Permalink

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	Decreased 5-fluorouracil catabolism has been considered a major factor contributing to fluoropyrimidine (FP)-related toxicity. Alterations in the dihydropyrimidine dehydrogenase gene coding for the first and rate-limiting enzyme of FP catabolic pathway could explain toxicity in only a limited proportion of FP-treated patients. The importance of gene variants in dihydropyrimidinase (DPYS) coding for subsequent catabolic enzyme of FP degradation is not fully understood. We detected nine DPYS variants including four located in non-coding sequence (c.-1T>C, IVS1+34C>G, IVS1-58T>C, and novel IVS4+11G>T), four silent (c.15G>A, c.216C>T, and novel c.105C>T and c.324C>A), and one novel missense variant c.1441C>T (p.R481W). All novel alterations were detected once only in patients without toxicity. The c.-1T>C and IVS1-58T>C variants were found to modify the risk of toxicity. Decreased 5-fluorouracil catabolism has been considered a major factor contributing to fluoropyrimidine (FP)-related toxicity. Alterations in the dihydropyrimidine dehydrogenase gene coding for the first and rate-limiting enzyme of FP catabolic pathway could explain toxicity in only a limited proportion of FP-treated patients. The importance of gene variants in dihydropyrimidinase (DPYS) coding for subsequent catabolic enzyme of FP degradation is not fully understood. We detected nine DPYS variants including four located in non-coding sequence (c.-1T>C, IVS1+34C>G, IVS1-58T>C, and novel IVS4+11G>T), four silent (c.15G>A, c.216C>T, and novel c.105C>T and c.324C>A), and one novel missense variant c.1441C>T (p.R481W). All novel alterations were detected once only in patients without toxicity. The c.-1T>C and IVS1-58T>C variants were found to modify the risk of toxicity. (en)
Title	Contribution of dihydropyrimidinase gene alterations to the development of serious toxicity in fluoropyrimidine-treated cancer patients. Contribution of dihydropyrimidinase gene alterations to the development of serious toxicity in fluoropyrimidine-treated cancer patients. (en)
skos:prefLabel	Contribution of dihydropyrimidinase gene alterations to the development of serious toxicity in fluoropyrimidine-treated cancer patients. Contribution of dihydropyrimidinase gene alterations to the development of serious toxicity in fluoropyrimidine-treated cancer patients. (en)
skos:notation	RIV/00216208:11110/10:7544!RIV11-MZ0-11110___
http://linked.open...avai/riv/aktivita	P Z
http://linked.open...avai/riv/aktivity	P(1A8708), Z(MSM0021620808)
http://linked.open...iv/cisloPeriodika	4
http://linked.open...vai/riv/dodaniDat	2011
http://linked.open...aciTvurceVysledku	Kleibl, Zdeněk Novotný, Jan Fidlerová, Julie Kleiblová, Petra Bílek, Matěj
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Univerzita Karlova v Praze / 1. lékařská fakulta
http://linked.open...dnocenehoVysledku	252005
http://linked.open...ai/riv/idVysledku	RIV/00216208:11110/10:7544
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	Dihydropyrimidinase gene (DPYS); 5-Fluorouracil; Toxicity; Denaturing high-performance liquid chromatography (en)
http://linked.open.../riv/klicoveSlovo	5-Fluorouracil Toxicity Denaturing high-performance liquid chromatography Dihydropyrimidinase gene (DPYS)
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[D2C2150519F3]
http://linked.open...i/riv/nazevZdroje	Cancer Chemotherapy and Pharmacology
http://linked.open...in/vavai/riv/obor	EB
http://linked.open...ichTvurcuVysledku	5 (xsd:int)
http://linked.open...cetTvurcuVysledku	7 (xsd:int)
http://linked.open...vavai/riv/projekt	ANALYSIS OF GENETIC AND EPIGENETIC EVENTS RESPONSIBLE FOR DEVELOPMENT OF SEVERE AND LETHAL TOXICITY FOLLOWING FLUOROPYRIMIDINES TREATMENT IN ONCOLOGY PATIENTS
http://linked.open...UplatneniVysledku	2010
http://linked.open...v/svazekPeriodika	65
http://linked.open...iv/tvurceVysledku	Kleibl, Zdeněk Kormunda, Stanislav Novotný, Jan Fidlerová, Julie Kleiblová, Petra Formánková, Zuzana Bílek, Matěj
http://linked.open...ain/vavai/riv/wos	000273786500005
http://linked.open...n/vavai/riv/zamer	Molekulárně biologické, genetické a epigenetické aspekty vzniku a rozvoje modelových tumorů dospělého věku. Význam pro epidemiologii, časnou diagnostiku a léčbu
issn	0344-5704
number of pages	9 (xsd:int)
http://localhost/t...ganizacniJednotka	11110
is http://linked.open...avai/riv/vysledek of	Contribution of dihydropyrimidinase gene alterations to the development of serious toxicity in fluoropyrimidine-treated cancer patients. Contribution of dihydropyrimidinase gene alterations to the development of serious toxicity in fluoropyrimidine-treated cancer patients. Contribution of dihydropyrimidinase gene alterations to the development of serious toxicity in fluoropyrimidine-treated cancer patients.

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