Sistema de Salut de Catalunya
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
2023-06-29T06:24:21Z
2023-06-29T06:24:21Z
2023-05
Genetic variants; Cancer; Spain
Variants genètiques; Càncer; Espanya
Variantes genéticas; Cáncer; España
Introduction 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.
Article
Published version
English
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
Oxford University Press
The Oncologist;28(5)
https://doi.org/10.1093/oncolo/oyad077
Attribution-NonCommercial 4.0 International
http://creativecommons.org/licenses/by-nc/4.0/
Articles científics - HVH [3440]
