Diversity of oncopharmacogenetic profile within Spanish population.

IF 1.7 3区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Pharmacogenetics and genomics Pub Date : 2024-07-01 Epub Date: 2024-03-18 DOI:10.1097/FPC.0000000000000530

Irene Ferrer Bolufer, Ximo Galiana Vallés, Silvia Izquierdo Álvarez, Ana Serrano Mira, Carola Guzmán Luján, María José Safont Aguilera, Ricardo González Tarancón, Matilde Bolaños Naranjo, Pilar Carrasco Salas, María Santamaría González, Raquel Rodríguez-López

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引用次数: 0

Abstract

Consensus guidelines for genotype-guided fluoropyrimidine dosing based on variation in the dihydropyrimidine dehydrogenase (DPYD) gene before treatment have been firmly established. The prior pharmacogenetic report avoids the serious toxicity that inevitably occurred in a non-negligible percentage of the treated patients. The precise description of the allelic distribution of the variants of interest in our reference populations is information of great interest for the management of the prescription of these antineoplastic drugs. We characterized the allelic distribution of the UGT1A1*28 variant (rs3064744), as well as the DPYD*2A (rs3918290) variant, c.1679T>G (rs55886062), c.2846A>T (rs67376798) and c.1129-5923C>G (rs75017182; HapB3) in series of 5251 patients who are going to receive treatment with irinotecan and fluoropyrimidines, representative of Valencian, Aragonese and Western Andalusian populations.

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西班牙人口中肿瘤药物遗传特征的多样性。

根据二氢嘧啶脱氢酶（DPYD）基因的变异在治疗前进行基因型指导氟嘧啶用药的共识指南已经牢固确立。事先的药物遗传学报告避免了在不可忽视的比例的治疗患者中不可避免地出现的严重毒性。准确描述参考人群中相关变体的等位基因分布情况，对于管理这些抗肿瘤药物的处方具有重要意义。我们对 UGT1A1*28 变体（rs3064744）、DPYD*2A（rs3918290）变体、c.1679T>G（rs55886062）、c.2846A>T（rs67376798）和 c.1129-5923C>G (rs75017182; HapB3)，这些患者来自巴伦西亚、阿拉贡和西安达卢西亚人群。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Pharmacogenetics and genomics 医学-生物工程与应用微生物

CiteScore

3.20

自引率

3.80%

发文量

审稿时长

3 months

期刊介绍： Pharmacogenetics and Genomics is devoted to the rapid publication of research papers, brief review articles and short communications on genetic determinants in response to drugs and other chemicals in humans and animals. The Journal brings together papers from the entire spectrum of biomedical research and science, including biochemistry, bioinformatics, clinical pharmacology, clinical pharmacy, epidemiology, genetics, genomics, molecular biology, pharmacology, pharmaceutical sciences, and toxicology. Under a single cover, the Journal provides a forum for all aspects of the genetics and genomics of host response to exogenous chemicals: from the gene to the clinic.