Background: Dihydropyrimidine dehydrogenase (DPD) is a crucial enzyme in the catabolism of 5-fluorouracil (5-FU), a drug that is frequently used in cancer therapy. Patients with deficient DPD activity are at risk of developing severe 5-FU–associated toxicity. One possible cause of deficiency is genetic polymorphisms in the DPD gene, such as IVS14+1G>A. Aim: The present study was conducted to screen for the IVS14+1G>A polymorphism in cancer patients receiving 5-FU and a control group. Methods: A total of 40 cancer patients (30 colorectal cancer (CRC) and 10 breast cancer patients) were enrolled in this study. One hundred healthy controls were also tested using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). DNA sequence analysis was carried out to confirm the presence of the IVSI14+1G>A polymorphism. Results: Only one CRC patient showed heterozygous IVS14+1G>A polymorphism in the DPD gene. Conclusion: The results of this study demonstrated a very low frequency of the IVS14+1G>A polymorphism among Jordanian patients with colorectal and breast cancer.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6373818 | PMC |
| http://dx.doi.org/10.22034/APJCP.2017.18.6.1651 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Dihydropyrimidine Dehydrogenase Polymorphism c.2194G>A Screening Is a Useful Tool for Decreasing Gastrointestinal and Hematological Adverse Drug Reaction Risk in Fluoropyrimidine-Treated Patients.
Curr Issues Mol Biol
September 2024
Department of Chemical, Biological, Pharmaceutical and Environmental Sciences, University of Messina, Viale Ferdinando Stagno D'Alcontres, 31, 98166 Messina, Italy.
Although the risk of fluoropyrimidine toxicity may be decreased by identifying poor metabolizers with a preemptive dihydropyrimidine dehydrogenase () test, following international standards, many patients with wild-type (WT) genotypes for classic variations may still exhibit adverse drug reactions (ADRs). Therefore, the safety of fluoropyrimidine therapy could be improved by identifying new polymorphisms associated with ADRs. This study was carried out to assess whether testing for the underestimated c.
View Article and Find Full Text PDFRapid detection of the irinotecan-related UGT1A1 & 5-fluorouracil related DPYD polymorphism by asymmetric polymerase chain reaction melting curve analysis.
Clin Chim Acta
July 2024
Center for Precision Medicine, The First Affiliated Hospital of Xiamen University, School of Medicine, Xiamen University, Xiamen, 361003, China; Department of Laboratory Medicine, The First Affiliated Hospital of Xiamen University, School of Medicine, Xiamen University, Xiamen, 361003, China; Xiamen Cell Therapy Research Center, The First Affiliated Hospital of Xiamen University, School of Medicine, Xiamen University, Xiamen, 361003, China. Electronic address:
Article Synopsis
- - A new polymerase chain reaction (PCR) melting curve analysis method has been developed to identify common DPYD and UGT1A1 gene variants before starting 5-fluorouracil and irinotecan therapy, which helps prevent severe drug side effects.
- - The method was tested on 28 patients and proved to be more accurate than existing methods like Multiplex qPCR, with very low variability in results and a high level of sensitivity.
- - The study concludes that this PCR melting curve analysis is an effective and economical approach for genotyping, making it a valuable tool for safer cancer treatment options.
Pharmacogenetic Variants Can Influence Optical Medication Use.
Endocr Metab Immune Disord Drug Targets
December 2023
Newborn Screening, Metabolic and Genetics Unit, Department of Human Genetics, National Institute of Health Dr Ricardo Jorge, 4000-055 Porto, Portugal.
Introduction: Single Nucleotide Polymorphisms (SNPs) are used as drug susceptibility biomarkers in metabolic diseases. Alterations in the gene encoding triggers the enzyme flavin monooxygenase 3 (FMO3), involved in the Sulindac metabolization, which also is responsible for the inherited metabolic disorder. Trimethylaminuria (TMAu, OMIM: 602079).
View Article and Find Full Text PDFDihydropyrimidine dehydrogenase (DPYD) gene c.1627A>G A/G and G/G genotypes are risk factors for lymph node metastasis and distant metastasis of colorectal cancer.
J Clin Lab Anal
November 2021
Guangdong Provincial Key Laboratory of Precision Medicine and Clinical Translational Research of Hakka Population, Meizhou People's Hospital (Huangtang Hospital), Meizhou Academy of Medical Sciences, Meizhou, China.
Background: Dihydropyrimidine dehydrogenase (DPD) acts as the key enzyme catabolizing pyrimidines, and may affect the tumor progression. DPYD gene mutations affect DPD activity. The relationship between DPYD IVS14+1G>A, c.
View Article and Find Full Text PDFComprehensive pharmacogenetic analysis of DPYD, UGT, CDA, and ABCB1 polymorphisms in pancreatic cancer patients receiving mFOLFIRINOX or gemcitabine plus nab-paclitaxel.
Pharmacogenomics J
April 2021
Unit of Clinical Pharmacology and Pharmacogenetics, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
Modified FOLFIRINOX (mFOLFIRINOX) and gemcitabine + nab-paclitaxel (GemNab) regimens represent a standard treatment in advanced pancreatic cancer (aPC). DPYD and UGT1A1 variants are relevant predictors of fluoropyrimidine and irinotecan-associated adverse events (AEs). Furthermore, data about the associations between polymorphisms in ABCB and CDA genes and GemNab-related toxicities are still controversial.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!