Value of gene polymorphisms as markers of 5-FU therapy response in stage III colon carcinoma: a pilot study
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Updated: Jun 10, 2026

Multi-Gene Single Nucleotide Polymorphism Detection in Gastric Cancer Based on Ion Semiconductor Sequencing Platform
Published on: May 10, 2024
Arantza Fariña-Sarasqueta1, Gesina van Lijnschoten, Harm J T Rutten
1Department of Molecular Diagnostics, PAMM Laboratory of Pathology, Michelangelolaan 2, 5623 EJ Eindhoven, The Netherlands.
Purpose:
The role of pharmacogenetics in chemotherapy response in colon carcinoma is controversial. We studied the value of known SNPs in genes involved in 5-FU metabolism as biomarkers of chemotherapy response in patients with stage III colon carcinoma.
Methods:
DNA was isolated from normal colonic tissue of 60 patients with stage III colon carcinoma treated adjuvantly with 5-FU combined with leucovorin. The tested SNPs were validated SNPs on the OPRT, TYMS and DPYD genes and a synonymous SNP on the TYMP gene. Real-time PCR, sequencing and RFLP were used for genotyping.
Results:
None of the studied genotypes was associated with any of the tumor or patient characteristics. Moreover, none of the genotypes studied had effect on patient survival.
Conclusion:
In conclusion, the tested SNPs are not biomarkers of chemotherapy response in our stage III colon cancer patients group.
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