Genetic Insights and Pharmacogenomic Approaches in Cancer Treatment

A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Cancer Biology and Oncology".

Deadline for manuscript submissions: 31 March 2026 | Viewed by 551

Special Issue Editor


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Guest Editor
Department of Medicine, Universidad Europea de Madrid, 28670 Madrid, Spain
Interests: pharmacogenetics; genetic basis; cancer treatments

Special Issue Information

Dear Colleagues,

This Special Issue is focused on “Genetic Insights and Pharmacogenomic Approaches in Cancer Treatment”. Pharmacogenomic approaches have emerged as a powerful tool in cancer treatment, allowing for the optimization of drug therapies based on an individual's genetic makeup. The study of both pharmacology and genomics will predict how a patient will respond to specific medications, helping to maximize treatment efficacy while minimizing adverse effects. In cancer care, pharmacogenomics can guide the selection of chemotherapy drugs, determine appropriate dosages, and identify patients who are likely to experience severe side effects from certain treatments. This personalized approach not only improves patient outcomes but also reduces healthcare costs by avoiding ineffective or potentially harmful treatments. Additionally, pharmacogenomic research is continually uncovering new drug targets and biomarkers, accelerating the development of innovative cancer therapies and bringing us closer to the goal of precision medicine in oncology.

Pharmacogenomics has made significant progress over the last 20 years and is increasingly used in personalized cancer medicine. As the field continues to evolve, the multidisciplinary model of genetic cancer risk assessment and management will serve as a foundation for integrating personalized genomic information into cancer medicine. This Special Issue aims to publish papers related to the genetic basis for interindividual differences in drug response, efficacy, survival, and toxicity in cancer treatments and in providing better and faster diagnosis and prognosis. Both germline and acquired genetic variation are very important to be considered as predictors of response to chemotherapy and targeted therapies and to contribute towards personalized medicine.

Dr. Ana Fernández-Santander
Guest Editor

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Keywords

  • pharmacogenetics
  • genetic basis
  • cancer treatments

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Published Papers (1 paper)

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Research

16 pages, 255 KB  
Article
Tumour SNPs Associated with Immune-Related Hepatitis in Patients with Melanoma Receiving Immune Checkpoint Inhibitors
by Jose María Rodríguez-Piñas, Alicia Romero-Lorca, Maria Gaibar, Apolonia Novillo, Margarita Rubio, Diego Malón, Beatriz Antón-Pascual, Francisca Inmaculada Camacho, Mercedes Cavanagh, David Ricardo Luján, Ana Manuela Martín, Radia Khedaoui, Diana Moreno, Fernando Pinedo, Macarena Boiza, Silvia García-Adrián, Patricia Gómez, David Marrupe and Ana Fernández-Santander
Biomedicines 2025, 13(10), 2351; https://doi.org/10.3390/biomedicines13102351 - 25 Sep 2025
Viewed by 288
Abstract
Background and Aims: Immune checkpoint inhibitors (ICIs) have significantly improved survival rates for patients with metastatic melanoma. However, these treatments can lead to immune-related adverse events (irAEs), including hepatitis. This exploratory study sought to identify tumour single-nucleotide polymorphisms (SNPs) associated with the risk [...] Read more.
Background and Aims: Immune checkpoint inhibitors (ICIs) have significantly improved survival rates for patients with metastatic melanoma. However, these treatments can lead to immune-related adverse events (irAEs), including hepatitis. This exploratory study sought to identify tumour single-nucleotide polymorphisms (SNPs) associated with the risk of ICI-induced hepatitis in melanoma patients. Methods: The study cohort comprised 69 patients with malignant melanoma treated with ICIs at several hospitals in Madrid, Spain. DNA was extracted from formalin-fixed paraffin-embedded tumour biopsies and SNP genotyping was conducted using a MassARRAY platform. Results: Significant associations were found between hepatitis risk and 4 of the 20 SNPs examined. A possible risk effect was shown for the variant GABRP SNP alleles rs11743438 and rs11743735. Among patients homozygous for these variant alleles (v/v), significantly higher proportions developed hepatitis, 75% and 71.4%, respectively, compared to 32.8% and 21.4, respectively, not developing hepatitis (p = 0.046; p = 0.013). However, in the same genotype group comparisons, the RGMA SNP rs4778080 seemed to have a protective effect, as 100% of patients who developed hepatitis were not in the v/v group for this allele (p = 0.043). Additionally, in genotype group comparisons wt/wt versus wt/v + v/v, the PACRG SNP rs55733913 was also associated with a higher risk of ICI-induced hepatitis: 66.7% of patients with hepatitis versus 22.8% without hepatitis in genotype group wt/v + v/v (p = 0.041). Conclusions: This exploratory study identifies candidate tumour SNPs as possible biomarkers to predict the risk of ICI-induced hepatitis, warranting their validation in larger patient cohorts. Full article
(This article belongs to the Special Issue Genetic Insights and Pharmacogenomic Approaches in Cancer Treatment)
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