The Application of Pharmacogenetics in Toxicity Prevention and Drug Effect Improvement

A special issue of Pharmaceuticals (ISSN 1424-8247). This special issue belongs to the section "Pharmacology".

Deadline for manuscript submissions: 31 July 2025 | Viewed by 1004

Special Issue Editor


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Guest Editor
Faculty of Pharmacy and Nutrition, Universidad Católica de Murcia (UCAM), campus los Jerónimos 177, Murcia, Spain
Interests: pharmacology; autism; sleep problems; clinical trials; biomolecules; medication errors; medication adherence

Special Issue Information

Dear Colleagues,

Nowadays, the field of pharmacogenomics has seen remarkable progress, and it is expected that further advancements have occurred up to the present moment. Pharmacogenomics, the study of how an individual's genetic makeup influences their response to drugs, has increasingly gained prominence in personalized medicine. Recent developments include the identification of new genetic markers associated with drug metabolism, efficacy, and adverse reactions. The integration of next-generation sequencing technologies has allowed for more comprehensive genomic profiling, enabling healthcare professionals to tailor drug prescriptions based on an individual's genetic profile. Additionally, collaborative efforts between researchers, pharmaceutical companies, and healthcare providers have led to the development of guidelines and databases that facilitate the interpretation of genetic variations in the context of drug response. The ongoing progress in pharmacogenomics holds promise for optimizing drug therapy, minimizing adverse effects, and improving overall patient outcomes.

This Special Issue aims to gather cutting-edge research, innovative methodologies, and insightful perspectives that contribute to the understanding and advancement of pharmacogenetics, strategies for preventing drug toxicity, and methods for enhancing drug efficacy. We believe that your expertise in "Pharmacogenetics" would significantly enrich the content of this Special Issue.

We look forward to receiving your valuable contribution to this Special Issue. Both research article Reviews are welcomed, we aim to be a comprehensive and influential compilation of research in the field.

Dr. Pura Ballester
Guest Editor

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Keywords

  • pharmacogenetics
  • drug toxicity prevention
  • efficacy enhancement
  • pharmaceutical research
  • precision medicine
  • therapeutic optimization

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Published Papers (1 paper)

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Research

43 pages, 380 KiB  
Article
Pharmacogenetics as a Future Tool to Risk-Stratify Breast Cancer Patients According to Chemotoxicity Potential from the Doxorubicin Hydrochloride and Cyclophosphamide (AC) Regimen
by Esraa K. Abdelfattah, Sanaa M. Hosny, Amira B. Kassem, Hebatallah Ahmed Mohamed Moustafa, Amany M. Tawfeik, Marwa N. Abdelhafez, Wael El-Sheshtawy, Bshra A. Alsfouk, Asmaa Saleh and Hoda A. Salem
Pharmaceuticals 2025, 18(4), 539; https://doi.org/10.3390/ph18040539 - 7 Apr 2025
Viewed by 565
Abstract
Background: Studying single-nucleotide polymorphisms (SNPs) in xenobiotic-transporting and metabolizing enzyme genes before administering the doxorubicin hydrochloride and cyclophosphamide (AC) regimen may help optimize breast cancer (BC) treatment for individual patients. Objective: Genotyping specific SNPs on genes encoding for the transport and metabolism [...] Read more.
Background: Studying single-nucleotide polymorphisms (SNPs) in xenobiotic-transporting and metabolizing enzyme genes before administering the doxorubicin hydrochloride and cyclophosphamide (AC) regimen may help optimize breast cancer (BC) treatment for individual patients. Objective: Genotyping specific SNPs on genes encoding for the transport and metabolism of the AC regimen and study their association with its chemotherapeutic toxicity. Method: This prospective cohort study was conducted in two hospitals in Egypt. Before receiving AC therapy, venous blood was collected from female patients with BC for DNA extraction and the genotyping of four SNPs: rs2228100 in ALDH3A1 gene, rs12248560 in CYP2C19 gene, rs1045642 in ABCB1 gene, and rs6907567 in SLC22A16 gene. Patients were then prospectively monitored for hematological, gastrointestinal, and miscellaneous toxicities throughout the treatment cycles. Results: The ALDH3A1 gene polymorphism demonstrated a significant increase in nausea, stomachache, and peripheral neuropathy among patients carrying the GC+CC genotype, compared to those with the GG genotype (p = 0.023, 0.036, and 0.008, respectively). Conversely, patients with the GG genotype exhibited significantly higher fever grades after cycles 1, 2, and 3 of the AC regimen compared to those with the GC+CC genotype (p = 0.009, 0.017, and 0.018, respectively). Additionally, fatigue severity was significantly increased among patients with the GG genotype compared to those with the GC+CC genotype following AC administration (p = 0.008). Conclusions: The SNP variation of ALDH3A1 (rs2228100) gene significantly influenced AC regimen toxicity in female BC patients. Meanwhile, SNPs in CYP2C19 (rs12248560), ABCB1 (rs1045642), and SLC22A16 (rs6907567) genes showed a significant influence on the recurrence rate of certain toxicities. Full article
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