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Relevance of the c.557A>G variant for the implementation of DPYD pharmacogenetics in populations with Afro-Latin American ancestry

Abstract:

Fluoropyrimidines are chemotherapy treatments widely used in chemotherapeutic regimens for different types of cancer. Adverse effects produced by dihydropyrimidine dehydrogenase (DPD) enzyme deficiency due to single nucleotide variants (SNVs) in the limiting enzyme of fluoropyrimidine catabolism occur with a high frequency in the world population; however, clinical recommendation guidelines focus mainly on variants of DPD gene (DPYD), which are highly prevalent in European populations. The aim of this review is to identify clinically relevant DPYD variants considering ethnic origin in order to develop population-specific genotyping panels for Afro-Latin Americans. Current recommendations from clinical guidelines and scientific literature in populations of African origin, including Dominican, have been reviewed. Based on the high reported frequency, the inclusion of the c.557A>G variant (which leads to a decrease in DPD enzyme activity) in populations of Afro-Latin American ancestry is proposed.