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DPD variants

Pharmacogenetic Biomarker

DPD variants

Selected Variants (Mutant Allele, Enzyme Activity)

DPYD*2A (1905+1G>A, none);

DPYD*13 (1679T>G, ↓↓);

DPYD rs67376798 (2846A>T, ↓↓)

Allele Frequency

These non-functional variants are present in 0.1–1% of whites (eg, French Caucasians)

Drugs

5-fluorouracil (5-FU), capecitabine (Xeloda)

Clinical Relevance

Fluoropyrimidines (ie, 5-fluorouracil, capecitabine) are metabolized by dihydropyrimidine dehydrogenase (DPD) enzyme, encoded by the DPYD gene. To avoid severe or even fatal drug toxicity, an alternative drug should be selected for patients who are homozygous for DPYD non-functional variants (*2A, *13, or rs67376798). Consider a 50% reduction in starting dose for heterozygous patients who have low DPD activity (30–70% of normal).

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Citation

McPhee, Stephen J., et al. "DPD Variants." Guide to Diagnostic Tests, 7th ed., McGraw-Hill Education, 2017. Emergency Central, emergency.unboundmedicine.com/emergency/view/GDT/619551/all/DPD_variants.
McPhee SJ, Lu CM, Nicoll D. DPD variants. Guide to Diagnostic Tests. 7th ed. McGraw-Hill Education; 2017. https://emergency.unboundmedicine.com/emergency/view/GDT/619551/all/DPD_variants. Accessed April 22, 2019.
McPhee, S. J., Lu, C. M., & Nicoll, D. (2017). DPD variants. In Guide to Diagnostic Tests. Available from https://emergency.unboundmedicine.com/emergency/view/GDT/619551/all/DPD_variants
McPhee SJ, Lu CM, Nicoll D. DPD Variants [Internet]. In: Guide to Diagnostic Tests. McGraw-Hill Education; 2017. [cited 2019 April 22]. Available from: https://emergency.unboundmedicine.com/emergency/view/GDT/619551/all/DPD_variants.
* Article titles in AMA citation format should be in sentence-case
TY - ELEC T1 - DPD variants ID - 619551 A1 - McPhee,Stephen J, AU - Lu,Chuanyi Mark, AU - Nicoll,Diana, BT - Guide to Diagnostic Tests UR - https://emergency.unboundmedicine.com/emergency/view/GDT/619551/all/DPD_variants PB - McGraw-Hill Education ET - 7 DB - Emergency Central DP - Unbound Medicine ER -