Article
Updated DPYD HapB3 haplotype structure and implications for pharmacogenomic testing.
Clinical and translational science - 1 Jan 2024
Turner Amy J, Haidar Cyrine E, Yang Wenjian, Boone Erin C, Offer Steven M, Empey Philip E, Haddad Andrew, Tahir Saba, Scharer Gunter, Broeckel Ulrich, Gaedigk Andrea
Abstract excerpt
The DPYD gene encodes dihydropyrimidine dehydrogenase, the rate-limiting enzyme for the metabolism of fluoropyrimidines 5-fluorouracil and capecitabine. Genetic variants in DPYD have been associated with altered enzyme activity, therefore accurate detection and interpretation is critical to predict metabolizer status for individualized fluoropyrimidine therapy. The most commonly observed deleterious variation is...
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