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5-fluorouracil

From SNPedia


Chemotherapeutic treatment using 5-fluorouracil may pose increased risk of toxicity to patients with variations in certain genes, including the DPYD and TYMS genes.

For example, carriers of a rs3918290(A) allele are at increased risk for toxicity when treated with 5-fluorouracil.[1]


PGx Table for 5-Fluorouracil (5-FU)
Genotype/Genoset Diplotype Gene Drug Use/Category/Class Medical Field Summary Descriptive Sentence
gs313 Normal metabolizer DPYD Chemotherapeutic Oncology Normal Response Expected You do not appear to carry any DPYD mutations linked to adverse side effects from 5-fluorouracil use.
gs312 Intermediate Metabolizer DPYD Chemotherapeutic Oncology Consider Half-Dose and/or Pharmacokinetic Studies You carry a nonfunctional DPYD allele that increases your risk for a toxicity upon 5-FU administration; consider starting at half-dose and/or doing pharmacokinetic studies.
gs306 Poor Metabolizer DPYD Chemotherapeutic Oncology Avoid 5-FU; use an alternative drug You may be at very high risk for severe toxicity from 5-FU administration; all major drug regulatory agencies recommend you select a non-fluoropyrimidine alternative chemotherapeutic.