Characterization of DPYD pharmacogenetic variation in Mexican patients with gastrointestinal malignancies

Allelic Variants of the DPYD Gene in Russian Patients with Cancer: The Results of Exome Sequencing

The frequency and distribution of common, clinically relevant, and rare DPYD variants in a Russian cohort of patients receiving fluoropyrimidine-containing chemotherapy and the observed allele frequencies with European and East Asian reference populations are compared.

Implementation and early outcomes of an in-house DPYD genotyping program for fluoropyrimidine safety.

Analysis of the influence of rs1801265 polymorphism on DPD enzyme activity and contributing factors in the Chinese population.

INTRODUCTION Dihydropyrimidine dehydrogenase (DPD), encoded by DPYD, is essential for 5-fluorouracil (5-FU) metabolism, yet functional variants remain understudied in Chinese populations. METHODS We enrolled 300 healthy Chinese subjects and measured DPD activity as the HPLC-based 5-FU degradation rate in PBMCs. Five...

Population-Specific Pharmacogenetic Variants Associated with Chemotherapy Response in the Bulgarian Population

Several pharmacogenetic variants showed distinct allele frequencies in the Bulgarian cohort and highlight the value of locally derived pharmacogenetic data for precision oncology and pharmacogenetically guided treatment strategies.

Genotype-Phenotype Predictive Gap in Pre-Emptive Screening of DPD Deficiency: Improving Sensitivity

Background/Objectives: toxicity related to treatment with the anti-cancer drugs fluoropyrimidines (FP) is mainly driven by a deficiency in the dihydropyrimidine-dehydrogenase (DPD) enzyme activity. Standardized pharmacogenomic markers in the DPYD gene allow pre-emptive prediction and therapy adjustment in patients test...

Clinically Relevant Pharmacogenomic Variant Frequencies in Kazakh, Russian, and Uzbek Population Groups Residing in Kazakhstan

Simple Summary Central Asian populations remain poorly represented in pharmacogenomic research, limiting the availability of population-specific information for precision medicine. In this study, we analyzed 112 directly genotyped, clinically relevant pharmacogenomic variants in 1301 Kazakh, Russian, and Uzbek individu...