Allelic Frequency of DPYD Genetic Variants in Patients with Cancer in Spain : The PhotoDPYD Study
Miarons, Marta (Hospital Universitari Vall d'Hebron)
Manzaneque Gordón, A. (Hospital Mútua de Terrassa)
Riera, Pau (Institut d'Investigació Biomèdica Sant Pau)
Nicolás, F.G. (Hospital Universitario de Canarias (La Laguna))
Universitat Autònoma de Barcelona

Data:	2023
Resum:	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. 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. 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. 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.
Drets:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, sempre que no sigui amb finalitats comercials, i sempre que es reconegui l'autoria de l'obra original.
Llengua:	Anglès
Document:	Article ; recerca ; Versió publicada
Matèria:	Cross-Sectional Studies ; Dihydrouracil Dehydrogenase (NADP) ; Fluorouracil ; Genotype ; Humans ; Neoplasms ; Polymorphism, Genetic ; Spain
Publicat a:	The Oncologist, Vol. 28 Núm. 5 (may 2023) , p. E304-E308, ISSN 1549-490X

DOI: 10.1093/oncolo/oyad077
PMID: 37014829

5 p, 2.5 MB

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