Page 51 - Personalised medicine of fluoropyrimidines using DPYD pharmacogenetics Carin Lunenburg
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To conclude, we propose using the gene activity score for the translation of DPYD genotype into a numeric value that can be easily used to describe DPD phenotype and to advise an individualized dose adjustment for the use of fluoropyrimidines.
Future perspective
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DPYD gene activity score
We expect that in the future more knowledge will be gained regarding relevant SNPs in DPYD other than the ones described in this article. Currently there are 13 to 19 SNPs expected to result in DPD deficiency. In addition, SNPs in other genes involved in fluoropyrimidine metabolism or mRNA could influence the DPD enzyme activity and could thus in the future be added to the activity score. The design of the gene activity score makes it possible to add other DYPD SNPs while maintaining a uniform method for describing DPD activity using a score table and for deriving individualized dose adjustments.
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