Allelic Frequency of DPYD Genetic Variants in Patients With Cancer in Spain : The PhotoDPYD Study
© The Author(s) 2023. Published by Oxford University Press..
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.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2023 |
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| Erschienen: |
2023 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:28 |
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| Enthalten in: |
The oncologist - 28(2023), 5 vom: 08. Mai, Seite e304-e308 |
| Sprache: |
Englisch |
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| Links: |
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| Themen: |
Dihydrouracil Dehydrogenase (NADP) |
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| Anmerkungen: |
Date Completed 24.08.2023 Date Revised 24.08.2023 published: Print Citation Status MEDLINE |
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| doi: |
10.1093/oncolo/oyad077 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| 245 | 1 | 0 | |a Allelic Frequency of DPYD Genetic Variants in Patients With Cancer in Spain |b The PhotoDPYD Study |
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| 500 | |a published: Print | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a © The Author(s) 2023. Published by Oxford University Press. | ||
| 520 | |a 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 | ||
| 520 | |a 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 | ||
| 520 | |a 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 | ||
| 520 | |a 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 | ||
| 650 | 4 | |a Journal Article | |
| 650 | 7 | |a Dihydrouracil Dehydrogenase (NADP) |2 NLM | |
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| 700 | 0 | |a RedDPYD Research Group with the Spanish Society of Hospital Pharmacy (SEFH) |e verfasserin |4 aut | |
| 700 | 1 | |a Abdel-Kader Martin, Laila |e investigator |4 oth | |
| 700 | 1 | |a Agustín, María José |e investigator |4 oth | |
| 700 | 1 | |a Alcacera López, Mª Aranzazu |e investigator |4 oth | |
| 700 | 1 | |a Alonso Castañé, Maria Dolores |e investigator |4 oth | |
| 700 | 1 | |a Álvarez Martín, Tamara |e investigator |4 oth | |
| 700 | 1 | |a Beloqui, Juan José |e investigator |4 oth | |
| 700 | 1 | |a Bernal Noguera, Sara |e investigator |4 oth | |
| 700 | 1 | |a Burgos San José, Amparo |e investigator |4 oth | |
| 700 | 1 | |a Cachafeiro Pin, Ana Isabel |e investigator |4 oth | |
| 700 | 1 | |a Castellote Belles, Laura |e investigator |4 oth | |
| 700 | 1 | |a Conde-Estévez, David |e investigator |4 oth | |
| 700 | 1 | |a Corrales Paz, Marina |e investigator |4 oth | |
| 700 | 1 | |a Díez García, Marc |e investigator |4 oth | |
| 700 | 1 | |a Do Pazo Oubiña, Fernando |e investigator |4 oth | |
| 700 | 1 | |a Fernández Fradejas, Jorge |e investigator |4 oth | |
| 700 | 1 | |a Frias Ruíz, Pau |e investigator |4 oth | |
| 700 | 1 | |a García González, Xandra |e investigator |4 oth | |
| 700 | 1 | |a Gilabert Sotoca, Marta |e investigator |4 oth | |
| 700 | 1 | |a González Suárez, Silvia |e investigator |4 oth | |
| 700 | 1 | |a Heredia, Diana |e investigator |4 oth | |
| 700 | 1 | |a Hernández Guío, Ana |e investigator |4 oth | |
| 700 | 1 | |a Herranz Muñoz, Clara |e investigator |4 oth | |
| 700 | 1 | |a Ibáñez Collado, Cristina |e investigator |4 oth | |
| 700 | 1 | |a Jiménez Pichardo, Lucía |e investigator |4 oth | |
| 700 | 1 | |a López Aspiroz, Elena |e investigator |4 oth | |
| 700 | 1 | |a López Ferández, Luis |e investigator |4 oth | |
| 700 | 1 | |a Luque Jiménez, María |e investigator |4 oth | |
| 700 | 1 | |a Martínez Bautista, María José |e investigator |4 oth | |
| 700 | 1 | |a Megías Vericat, Juan Eduardo |e investigator |4 oth | |
| 700 | 1 | |a Melgarejo Ortuño, Alejandra |e investigator |4 oth | |
| 700 | 1 | |a Monge, Inés |e investigator |4 oth | |
| 700 | 1 | |a Morales Barrios, Alberto |e investigator |4 oth | |
| 700 | 1 | |a Moreno, María |e investigator |4 oth | |
| 700 | 1 | |a Mourani Padrón, Ivette |e investigator |4 oth | |
| 700 | 1 | |a Pampín Sánchez, Ruben |e investigator |4 oth | |
| 700 | 1 | |a Planas Giner, Albert |e investigator |4 oth | |
| 700 | 1 | |a Porta Oltra, Begoña |e investigator |4 oth | |
| 700 | 1 | |a Prado Mel, Elena |e investigator |4 oth | |
| 700 | 1 | |a Ramos Díaz, Ruth |e investigator |4 oth | |
| 700 | 1 | |a Riestra Ayora, Ana |e investigator |4 oth | |
| 700 | 1 | |a Rodríguez Moreta, Claudia |e investigator |4 oth | |
| 700 | 1 | |a Santiago Pérez, Alejandro |e investigator |4 oth | |
| 700 | 1 | |a Tamayo Bermejo, Rocío |e investigator |4 oth | |
| 700 | 1 | |a Vuelta Arce, María |e investigator |4 oth | |
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