Related Experiment Video
Updated: Jun 27, 2026

Multi-Gene Single Nucleotide Polymorphism Detection in Gastric Cancer Based on Ion Semiconductor Sequencing Platform
Published on: May 10, 2024
Single-Nucleotide Polymorphisms in Capecitabine Bioactivation Genes and Their Contribution to Breast Cancer Therapy
Andrea Fernández1, Yasmín Cura-Cuevas2,3, Susana Rojo-Tolosa1,2,4,5
1Pharmacy Service, Pharmacogenetics Unit, Hospital Universitario Virgen de las Nieves, 18014 Granada, Spain.
Certain genetic variations in CES1 and CDA genes may predict capecitabine treatment effectiveness in breast cancer patients, impacting progression-free survival. Further research is needed for clinical application.
Area of Science:
- Pharmacogenomics
- Oncology
- Molecular Biology
Background:
- Breast cancer (BC) is a leading cause of cancer mortality globally.
- Capecitabine is a common treatment for advanced BC, but response varies significantly between individuals.
- Understanding genetic factors influencing capecitabine efficacy is crucial for personalized treatment.
Purpose of the Study:
- To investigate the association between single-nucleotide polymorphisms (SNPs) in capecitabine bioactivation genes and progression-free survival (PFS) in BC patients.
- To identify potential genetic biomarkers for predicting capecitabine response.
Main Methods:
- An ambispective cohort study involving 85 Caucasian BC patients.
- Analysis of four SNPs in the CES1, CDA, and TYMP genes using real-time PCR with TaqMan® probes.
Main Results:
- The GA genotype of CES1 rs71647871 was significantly associated with shorter PFS (p = 0.010; HR = 7.46).
- The TT genotype of CDA rs602950 was also significantly associated with shorter PFS (p = 0.009; HR = 3.50).
Conclusions:
- CES1 rs71647871 and CDA rs602950 genotypes may serve as predictive biomarkers for capecitabine effectiveness in BC.
- Larger cohort studies are recommended to validate these findings for clinical practice.
Related Concept Videos
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
Pharmacogenetics of Phase II Enzymes: N-acetyltransferase, Thiopurine S-methyltransferase, UDP-glucuronosyltransferase
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Combination Therapies and Personalized Medicine
The combination of the drug acetazolamide and sulforaphane is a good example of combination therapy to treat cancer. The cells in the interior of a large tumor often die due to the hypoxic and...
Pharmacogenomics: Identification of New Drug Targets
Pharmacogenetics of Drug Metabolism: Overview
