Allelic frequency of DPYD genetic variants in patients with cancer in Spain: The PhotoDPYD study

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  • dc.contributor.author Miarons, Marta
  • dc.contributor.author Manzaneque Gordón, Alba
  • dc.contributor.author Riera Armengol, Pau
  • dc.contributor.author Gutiérrez Nicolás, Fernando
  • dc.contributor.author RedDPYD Research Group of the Spanish Society of Hospital Pharmacy (SEFH)
  • dc.date.accessioned 2024-06-03T06:30:31Z
  • dc.date.available 2024-06-03T06:30:31Z
  • dc.date.issued 2023
  • dc.description.abstract 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.
  • dc.format.mimetype application/pdf
  • dc.identifier.citation Miarons M, Manzaneque Gordón A, Riera P, Gutiérrez Nicolás F; RedDPYD Research Group with the Spanish Society of Hospital Pharmacy (SEFH). Allelic frequency of DPYD genetic variants in patients with cancer in Spain: The PhotoDPYD study. Oncologist. 2023 May 8;28(5):e304-8. DOI: 10.1093/oncolo/oyad077
  • dc.identifier.doi http://dx.doi.org/10.1093/oncolo/oyad077
  • dc.identifier.issn 1083-7159
  • dc.identifier.uri http://hdl.handle.net/10230/60329
  • dc.language.iso eng
  • dc.publisher Oxford University Press
  • dc.relation.ispartof Oncologist. 2023 May 8;28(5):e304-8
  • dc.rights © The Author(s) 2023. Published by Oxford University Press. This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial License (https://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com.
  • dc.rights.accessRights info:eu-repo/semantics/openAccess
  • dc.rights.uri http://creativecommons.org/licenses/by-nc/4.0/
  • dc.subject.other Càncer
  • dc.title Allelic frequency of DPYD genetic variants in patients with cancer in Spain: The PhotoDPYD study
  • dc.type info:eu-repo/semantics/article
  • dc.type.version info:eu-repo/semantics/publishedVersion

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