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Updated: Jul 3, 2026

Multi-Gene Single Nucleotide Polymorphism Detection in Gastric Cancer Based on Ion Semiconductor Sequencing Platform
Published on: May 10, 2024
[Pharmacogenetics and tumor sensitivity of antineoplastic agents. Application to colorectal cancer]
1Laboratoire d'oncopharmacologie, Centre régional de lutte contre le cancer de Nice Antoine-Lacassagne, 06189 Nice Cedex 02. gerard.milano@nice.fnclcc.fr
Abstract:
There are gene polymorphisms which can impact on the pharmacodynamics of anticancer agents used in the treatment of colorectal cancer. It is the case for thymidylate synthase, for methylenetetrahydrofolate reductase and for UGT 1A1. Polymorphisms of UGT 1A1 are considered as potential indicators of a risk of toxicity treatment by irinotecan. Clinical trials are in progress so as to validate the clinical usefulness of these germinal genetic analyses so as to select treatments/doses adapted to individual profiles.
Insights
Gene variations influence how anticancer drugs work for colorectal cancer. Specifically, UGT 1A1 gene polymorphisms may predict irinotecan treatment toxicity, guiding personalized medicine approaches.
Area of Science:
- Pharmacogenomics
- Oncology
- Genetics
Context:
- Colorectal cancer treatment involves various anticancer agents.
- Gene polymorphisms in key enzymes like thymidylate synthase, methylenetetrahydrofolate reductase, and UGT 1A1 can affect drug efficacy and toxicity.
- UGT 1A1 gene variations are particularly implicated in irinotecan treatment outcomes.
Purpose:
- To explore the impact of gene polymorphisms on the pharmacodynamics of colorectal cancer treatments.
- To identify UGT 1A1 polymorphisms as potential biomarkers for irinotecan-induced toxicity.
- To highlight the ongoing clinical validation of germline genetic testing for personalized cancer therapy selection.
Summary:
- Gene polymorphisms significantly influence the pharmacodynamics of anticancer drugs used in colorectal cancer therapy.
- Specific polymorphisms in thymidylate synthase, methylenetetrahydrofolate reductase, and UGT 1A1 are relevant.
- UGT 1A1 polymorphisms are recognized as potential indicators of irinotecan treatment toxicity risk.
Impact:
- Germline genetic analyses are being clinically validated to personalize cancer treatment selection and dosage.
- This research supports the development of precision medicine in oncology.
- Identifying genetic predispositions to drug toxicity can improve patient safety and treatment effectiveness.
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