Allelic Frequency of DPYD Genetic Variants in Patients With Cancer in Spain: The PhotoDPYD Study

Genetic variants; Cancer; Spain

Detalles Bibliográficos
Autores: Miarons, Marta, Manzaneque, Alba, Riera, Pau, Gutiérrez Nicolás, Fernando
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2023
País:España
Institución:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositorio:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:11351/9923
Acceso en línea:https://hdl.handle.net/11351/9923
http://hdl.handle.net/11351/9923
Access Level:acceso abierto
Palabra clave:Càncer - Aspectes genètics
Polimorfisme genètic
DISEASES::Neoplasms
Other subheadings::Other subheadings::Other subheadings::/genetics
PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Polymorphism, Genetic
ENFERMEDADES::neoplasias
Otros calificadores::Otros calificadores::Otros calificadores::/genética
FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::polimorfismo genético
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oai_identifier_str oai:recercat.cat:11351/9923
network_acronym_str ES
network_name_str España
repository_id_str
dc.title.none.fl_str_mv Allelic Frequency of DPYD Genetic Variants in Patients With Cancer in Spain: The PhotoDPYD Study
title Allelic Frequency of DPYD Genetic Variants in Patients With Cancer in Spain: The PhotoDPYD Study
spellingShingle Allelic Frequency of DPYD Genetic Variants in Patients With Cancer in Spain: The PhotoDPYD Study
Miarons, Marta
Càncer - Aspectes genètics
Polimorfisme genètic
DISEASES::Neoplasms
Other subheadings::Other subheadings::Other subheadings::/genetics
PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Polymorphism, Genetic
ENFERMEDADES::neoplasias
Otros calificadores::Otros calificadores::Otros calificadores::/genética
FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::polimorfismo genético
title_short Allelic Frequency of DPYD Genetic Variants in Patients With Cancer in Spain: The PhotoDPYD Study
title_full Allelic Frequency of DPYD Genetic Variants in Patients With Cancer in Spain: The PhotoDPYD Study
title_fullStr Allelic Frequency of DPYD Genetic Variants in Patients With Cancer in Spain: The PhotoDPYD Study
title_full_unstemmed Allelic Frequency of DPYD Genetic Variants in Patients With Cancer in Spain: The PhotoDPYD Study
title_sort Allelic Frequency of DPYD Genetic Variants in Patients With Cancer in Spain: The PhotoDPYD Study
dc.creator.none.fl_str_mv Miarons, Marta
Manzaneque, Alba
Riera, Pau
Gutiérrez Nicolás, Fernando
author Miarons, Marta
author_facet Miarons, Marta
Manzaneque, Alba
Riera, Pau
Gutiérrez Nicolás, Fernando
author_role author
author2 Manzaneque, Alba
Riera, Pau
Gutiérrez Nicolás, Fernando
author2_role author
author
author
dc.contributor.none.fl_str_mv Institut Català de la Salut
[Miarons M] Servei de Farmàcia, Vall d’Hebron Hospital Universitari, Barcelona, Spain. ReDPyD group from the Spanish Society of Hospital Pharmacy (SEFH), Tenerife, Canarias, Spain. [Manzaneque Gordón A] Pharmacy Department, Hospital Mutua de Terrassa, Terrassa, Barcelona, Spain. ReDPyD group from the Spanish Society of Hospital Pharmacy (SEFH), Tenerife, Canarias, Spain. [Riera P] Pharmacy Department, IIB-Sant Pau, Hospital de la Santa Creu i Sant Pau, Carrer Sant Quintí, Barcelona, Spain. U705, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain. ReDPyD group from the Spanish Society of Hospital Pharmacy (SEFH), Tenerife, Canarias, Spain. [Gutiérrez Nicolás F] Pharmacy Department, Research Unit Hospital Universitario de Canarias (CHUC), Tenerife, Canarias, Spain. ReDPyD group from the Spanish Society of Hospital Pharmacy (SEFH), Tenerife, Canarias, Spain
Vall d'Hebron Barcelona Hospital Campus
dc.subject.none.fl_str_mv Càncer - Aspectes genètics
Polimorfisme genètic
DISEASES::Neoplasms
Other subheadings::Other subheadings::Other subheadings::/genetics
PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Polymorphism, Genetic
ENFERMEDADES::neoplasias
Otros calificadores::Otros calificadores::Otros calificadores::/genética
FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::polimorfismo genético
topic Càncer - Aspectes genètics
Polimorfisme genètic
DISEASES::Neoplasms
Other subheadings::Other subheadings::Other subheadings::/genetics
PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Polymorphism, Genetic
ENFERMEDADES::neoplasias
Otros calificadores::Otros calificadores::Otros calificadores::/genética
FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::polimorfismo genético
description Genetic variants; Cancer; Spain
publishDate 2023
dc.date.none.fl_str_mv 2023
2023
2023
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://hdl.handle.net/11351/9923
http://hdl.handle.net/11351/9923
url https://hdl.handle.net/11351/9923
http://hdl.handle.net/11351/9923
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv The Oncologist;28(5)
https://doi.org/10.1093/oncolo/oyad077
dc.rights.none.fl_str_mv Attribution-NonCommercial 4.0 International
http://creativecommons.org/licenses/by-nc/4.0/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv Attribution-NonCommercial 4.0 International
http://creativecommons.org/licenses/by-nc/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Oxford University Press
publisher.none.fl_str_mv Oxford University Press
dc.source.none.fl_str_mv Scientia
reponame:Recercat. Dipósit de la Recerca de Catalunya
instname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
instname_str Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
reponame_str Recercat. Dipósit de la Recerca de Catalunya
collection Recercat. Dipósit de la Recerca de Catalunya
repository.name.fl_str_mv
repository.mail.fl_str_mv
_version_ 1869412964406132737
spelling Allelic Frequency of DPYD Genetic Variants in Patients With Cancer in Spain: The PhotoDPYD StudyMiarons, MartaManzaneque, AlbaRiera, PauGutiérrez Nicolás, FernandoCàncer - Aspectes genèticsPolimorfisme genèticDISEASES::NeoplasmsOther subheadings::Other subheadings::Other subheadings::/geneticsPHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Polymorphism, GeneticENFERMEDADES::neoplasiasOtros calificadores::Otros calificadores::Otros calificadores::/genéticaFENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::polimorfismo genéticoGenetic variants; Cancer; SpainVariants genètiques; Càncer; EspanyaVariantes genéticas; Cáncer; EspañaIntroduction Identifying polymorphisms in the dihydropyrimidine dehydrogenase (DPYD) gene is gaining importance to be able to predict fluoropyrimidine-associated toxicity. The aim of this project was to describe the frequency of the DPYD variants DPYD*2A (rs3918290); c.1679T>G (rs55886062); c.2846A>T (rs67376798) and c.1129-5923C>G (rs75017182; HapB3) in the Spanish oncological patients. Material and Methods Cross-sectional and multicentric study (PhotoDPYD study) conducted in hospitals located in Spain designed to register the frequency of the most relevant DPYD genetic variants in oncological patients. All oncological patients with DPYD genotype were recruited in the participant hospitals. The measures determined where the presence or not of the 4 DPYD previously described variants. Results Blood samples from 8054 patients with cancer from 40 different hospitals were used to determine the prevalence of the 4 variants located in the DPYD gene. The frequency of carriers of one defective DPYD variant was 4.9%. The most frequently identified variant was c.1129-5923C>G (rs75017182) (HapB3), in 2.9%, followed by c.2846A>T (rs67376798) in 1.4%, c.1905 + 1G>A (rs3918290, DPYD*2A) in 0.7% and c.1679T>G (rs55886062) in 0.2% of the patients. Only 7 patients (0.08%) were carrying the c.1129-5923C>G (rs75017182) (HapB3) variant, 3 (0.04%) the c.1905 + 1G>A (rs3918290, DPYD*2A) and one (0.01%) the DPYD c.2846A>T (rs67376798, p.D949V) variant in homozygosis. Moreover, 0.07% were compound heterozygous patients, 3 carrying the DPYD variants DPYD*2A + c.2846A>T, 2 the DPYD c.1129-5923C>G + c.2846A>T and one the DPYD*2A + c.1129-5923C>G variants. Conclusions Our results demonstrate the relatively high frequency of DPYD genetic variants in the Spanish patient with cancer population, which highlights the relevance of their determination before initiating a fluoropirimidine-containing regimen.Oxford University PressInstitut Català de la Salut[Miarons M] Servei de Farmàcia, Vall d’Hebron Hospital Universitari, Barcelona, Spain. ReDPyD group from the Spanish Society of Hospital Pharmacy (SEFH), Tenerife, Canarias, Spain. [Manzaneque Gordón A] Pharmacy Department, Hospital Mutua de Terrassa, Terrassa, Barcelona, Spain. ReDPyD group from the Spanish Society of Hospital Pharmacy (SEFH), Tenerife, Canarias, Spain. [Riera P] Pharmacy Department, IIB-Sant Pau, Hospital de la Santa Creu i Sant Pau, Carrer Sant Quintí, Barcelona, Spain. U705, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain. ReDPyD group from the Spanish Society of Hospital Pharmacy (SEFH), Tenerife, Canarias, Spain. [Gutiérrez Nicolás F] Pharmacy Department, Research Unit Hospital Universitario de Canarias (CHUC), Tenerife, Canarias, Spain. ReDPyD group from the Spanish Society of Hospital Pharmacy (SEFH), Tenerife, Canarias, SpainVall d'Hebron Barcelona Hospital Campus202320232023info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://hdl.handle.net/11351/9923http://hdl.handle.net/11351/9923Scientiareponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)InglésThe Oncologist;28(5)https://doi.org/10.1093/oncolo/oyad077Attribution-NonCommercial 4.0 Internationalhttp://creativecommons.org/licenses/by-nc/4.0/info:eu-repo/semantics/openAccessoai:recercat.cat:11351/99232026-05-29T05:05:01Z
score 15,81155

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