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Updated: Aug 23, 2026

Multi-Gene Single Nucleotide Polymorphism Detection in Gastric Cancer Based on Ion Semiconductor Sequencing Platform
Published on: May 10, 2024
[Pharmacogenetics and pharmacogenomics of cancers]
1Institut Bergonié et université Victor-Segalen, 229, cours de l'Argonne, 33076 Bordeaux, France. robert@bergonie.org
Abstract:
Sequencing the human genome brings new tools for the individualisation of cancer chemotherapy, firstly thanks to the identification of polymorphisms of genes involved in anticancer drug metabolism or activity (Pharmacogenetics), and secondly thanks to the determination of tumour gene expression profiles and their relationship to chemosensitivity and chemoresistance (Pharmacogenomics). A few functional polymorphisms have been known for a long time (thiopurine methyltransferase, glutathion S-transferases), but several new ones have been identified recently, at the level of the genes encoding drug targets (thymidylate synthase), at the level of DNA repair enzymes (XPD) or at the level of transport proteins (MDR1). On the other hand, the research of correlations between gene expression profiles and chemosensitivity has been performed on the in vitro models of the National Cancer Institute and may allow crucial improvements in the identification of patients who would best take advantage of a specific chemotherapy. Clinical trials, first on a retrospective basis, then on a prospective one, are implemented to validate this approach.
Insights
Human genome sequencing advances personalized cancer chemotherapy through pharmacogenetics and pharmacogenomics. Identifying gene variations and expression profiles helps tailor treatments for better patient outcomes.
Area of Science:
- Genomic Medicine
- Cancer Therapeutics
- Molecular Biology
Context:
- The advent of human genome sequencing provides novel avenues for personalizing cancer chemotherapy.
- Pharmacogenetics focuses on gene variations affecting drug metabolism and activity.
- Pharmacogenomics investigates tumor gene expression profiles linked to drug response.
Purpose:
- To explore how pharmacogenetics and pharmacogenomics can individualize cancer treatment strategies.
- To identify genetic markers and gene expression patterns that predict chemosensitivity or chemoresistance.
Summary:
- Functional polymorphisms in genes like thiopurine methyltransferase and glutathion S-transferases are established.
- Recent discoveries include polymorphisms in drug target genes (thymidylate synthase), DNA repair enzymes (XPD), and transport proteins (MDR1).
- Correlations between gene expression profiles and chemosensitivity, studied using in vitro models, show promise for patient stratification.
Impact:
- Facilitates the identification of patients most likely to benefit from specific chemotherapies.
- Enables the development of more targeted and effective cancer treatment regimens.
- Clinical trials are underway to validate these pharmacogenomic approaches for routine clinical application.
Related Concept Videos
Pharmacogenetics and Pharmacogenomics: Overview
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Pharmacogenomics: Identification of New Drug Targets
Pharmacogenetics of Drug Metabolism: Overview
Principles of Pharmacogenetics: Types of Genetic Variants
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase