Detection of the presence of polymorphisms in the DPYD gene in patients with colorectal and non-colorectal digestive tumors.

Abstract

e15530 Background: Recently the European Medicines Agency (EMA) and the Spanish Medicines Agency (AEMPS) recommend performing a phenotypic and/or genotypic test before starting treatment with fluoropyrimidines The objective of this work has been to analyze the detection of polymorphisms in the DPYD gene in order to predict toxicity to fluoropyrimidines in our study population. Methods: Prospective study of 6 months duration in which patients diagnosed with CRC and non-CRC digestive tumors with an age range of 18-99 years have been included. The technique is performed on a sample of DNA extracted from lymphocytes in peripheral blood in an EDTA tube, performing a specific fluorescent allele amplification study (AMRS), which detects point mutations, insertions or deletions of DNA. Results: During the study period, 260 patients have been included, of whom 16 mutations have been detected, all in heterozygosity. Conclusions: Various variants of DPYD have been reported to cause the absence or reduction of dihydropyrimidine dehydrogenase (DPP) activity. Through this technique we avoid the risk of serious toxicity with the administration of these drugs.[Table: see text]