Objective: To investigate the correlation of peripheral DPYD gene polymorphism with 5-fluorouracil (5-FU) susceptibility and side effect in patients with colon cancer.

Methods: The total DNA of peripheral mononuclear cells was extracted in 100 cases of colon cancer patients. Quantitative PCR was conducted to measure DPYD gene 14G1A, A1627G, T85C 3 loci polymorphism, and analyze the correlation of 5-FU susceptibility, side effects with DPYD gene polymorphism.

Results: Mutations were detected at position 14G1A (mutation rate 14%), A1627G (mutation rate 11%), and T85C (mutation rate 17%). The effective rate of 3 loci of wild type was significantly higher than that of mutant type (P < 0.05). With respect to side effects such as myelosuppression, hand-foot syndrome, diarrhea, and gastrointestinal reactions, the incidence in mutation type was significantly higher than that in the wild type (P < 0.05).

Conclusion: DPYD gene polymorphism plays a guiding role in predicting efficacy and toxicity of 5-FU, which can be used as an important reference index of 5-FU individualized administration scheme.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4307567PMC

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