Massively parallel variant characterization identifies NUDT15 alleles associated with thiopurine toxicity.

doi:10.1073/pnas.1915680117

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Article

Massively parallel variant characterization identifies NUDT15 alleles associated with thiopurine toxicity.

Proceedings of the National Academy of Sciences of the United States of America - 10 Mar 2020

Suiter Chase C, Moriyama Takaya, Matreyek Kenneth A, Yang Wentao, Scaletti Emma Rose, Nishii Rina, Yang Wenjian, Hoshitsuki Keito, Singh Minu, Trehan Amita, Parish Chris, Smith Colton, Li Lie, Bhojwani Deepa, Yuen Liz Y P, Li Chi-Kong, Li Chak-Ho, Yang Yung-Li, Walker Gareth J, Goodhand James R, Kennedy Nicholas A, Klussmann Federico Antillon, Bhatia Smita, Relling Mary V, Kato Motohiro, Hori Hiroki, Bhatia Prateek, Ahmad Tariq, Yeoh Allen E J, Stenmark Pål, Fowler Douglas M, Yang Jun J

Abstract excerpt

As a prototype of genomics-guided precision medicine, individualized thiopurine dosing based on pharmacogenetics is a highly effective way to mitigate hematopoietic toxicity of this class of drugs. Recently, NUDT15 deficiency was identified as a genetic cause of thiopurine toxicity, and NUDT15-informed preemptive dose reduction was quickly adopted in clinical settings. To exhaustively identify pharmacogenetic...

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PMID: 32094176
DOI: 10.1073/pnas.1915680117
PMCID: PMC7071893

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