Genetic Tests Identify Risk of Fluoropyrimidine-Induced Toxicity


Answers From the Lab

Certain patients can experience severe and potentially life-threatening reactions to fluoropyrimidines, which are anti-metabolite chemotherapy agents commonly used in cancer treatment. In this test-specific episode of the "Answers From the Lab" podcast, Ann Moyer, M.D., Ph.D., explains how Mayo Clinic Laboratories' unique pharmacogenomics tests identify individuals at risk of these reactions to help determine safe dosage and personalize therapy.

The two tests target the DPYD gene that encodes the dihydropyrimidine dehydrogenase (DPD) enzyme, which metabolizes about 80% of fluoropyrimidines. "Individuals with partial or complete DPD deficiency are at a much higher risk for severe and potentially life-threatening adverse reactions when they are given a standard dose of fluoropyrimidines," Dr. Moyer says. "It's really important to test patients before they get their first dose so adjustments can be made before they suffer from a potentially preventable adverse reaction."

Mayo Clinic Laboratories' first DPYD test (Mayo ID: DPYDQ) targets eight relatively common genetic variants that result in either no or decreased enzyme activity. The second sequencing test (Mayo ID: DPYDZ) covers the entire coding region, splice junctions, and a clinically significant intronic variant of the DPYD gene, as well as rare sequence variants not included in the targeted genotyping assay. Results of both tests are available within 10 days.

Listen to learn more about Mayo Clinic Laboratories' unique DPYD genetic tests.

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Barbara J. Toman

Barbara J. Toman is a Senior Communications Specialist at Mayo Clinic Laboratories. She is also the science writer for Mayo’s Neurosciences Update newsletter, which helps referring physicians to stay informed about Mayo’s treatment and research. Barbara has worked at Mayo Clinic since 2007. She enjoys international travel and cooking.