Evidence map›Paper›PMID 42560154›Full record

ArticleClinical pharmacology and therapeutics2026

Clinical Functional Assignment of TPMT and NUDT15 Alleles by the Clinical Pharmacogenetics Implementation Consortium Pharmacogene Curation Expert Panel.

Bailey M Tibben, Maud Maillard, Victoria M Pratt, Ann M Moyer, Debbie M Figueroa, Michelle Whirl-Carrillo, Andrea Gaedigk, Gabriele Stocco, Matthias Schwab, Kelly E Caudle and 1 more

Abstract read
In one paragraph

Article in Clinical pharmacology and therapeutics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors.

Bailey M TibbenDepartment of Pharmacy and Pharmaceutical Sciences, St Jude Children's Research Hospital, Memphis, Tennessee, USA.ORCID https://orcid.org/0000-0002-7254-4504
Maud MaillardDepartment of Pharmacy and Pharmaceutical Sciences, St Jude Children's Research Hospital, Memphis, Tennessee, USA.ORCID https://orcid.org/0000-0002-6615-3136
Victoria M PrattAgena Bioscience, San Diego, California, USA.ORCID https://orcid.org/0000-0003-2871-5051
Ann M MoyerDepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.ORCID https://orcid.org/0000-0003-2590-7218
Debbie M FigueroaDepartment of Internal Medicine, University of South Dakota School of Medicine, Vermillion, South Dakota, USA.ORCID https://orcid.org/0009-0002-9040-7164
Michelle Whirl-CarrilloDepartment of Biomedical Data Science, Stanford University, Stanford, California, USA.ORCID https://orcid.org/0000-0003-2414-9312
Andrea GaedigkDivision of Clinical Pharmacology, Toxicology & Therapeutic Innovation, Children's Mercy Research Institute, Kansas City, Missouri, USA.ORCID https://orcid.org/0000-0001-6968-1893
Gabriele StoccoDepartment of Medical, Surgical and Health Sciences, University of Trieste, Trieste, Italy.ORCID https://orcid.org/0000-0003-0964-5879
Matthias SchwabDr. Margarete Fischer-Bosch Institute of Clinical Pharmacology, Stuttgart, Germany.ORCID https://orcid.org/0000-0002-9984-075X
Kelly E CaudleDepartment of Pharmacy and Pharmaceutical Sciences, St Jude Children's Research Hospital, Memphis, Tennessee, USA.ORCID https://orcid.org/0000-0002-5663-3793
Jun J YangDepartment of Pharmacy and Pharmaceutical Sciences, St Jude Children's Research Hospital, Memphis, Tennessee, USA.ORCID https://orcid.org/0000-0002-0770-9659

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The Clinical Pharmacogenetics Implementation Consortium (CPIC) TPMT/NUDT15 Pharmacogene Curation Expert Panel (PCEP) conducted a comprehensive review of clinical, laboratory, and computational evidence to determine the clinical function assignments for TPMT and NUDT15 star alleles. These genes are critical for the metabolism of thiopurines, which are widely used in the treatment of cancer and autoimmune disorders. Standardized allele function assignment is essential for predicting metabolizer phenotypes and pharmacogenetics-guided thiopurine dosing. The work presented here includes the first designation of decreased function alleles for both TPMT and NUDT15, reflecting new clinical data that demonstrate partial loss of enzymatic activity and reduced dose tolerance. The panel also reclassified several alleles previously assigned uncertain or unknown function. The functional assignments were informed by a standardized framework incorporating clinical data, such as thiopurine tolerance and toxicity, as well as in vitro protein activity, ex vivo enzymatic measurements, and in silico variant effect prediction tools. These updates enhance the precision of genotype-to-phenotype mapping and support more personalized thiopurine therapy across diverse patient populations.

Indexed as

MethyltransferasesPharmacogeneticsPyrophosphatasesAllelesHumansMercaptopurineNudix HydrolasesPhenotypeMercaptopurineMethyltransferasesNudix HydrolasesNUDT15 protein, humanPyrophosphatasesTPMT protein, human

Identifiers

PMID42560154
PMCPMC13446156

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.