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Gene

DPYD

DPYD is a gene biomarker in the evidence tier "Cancer actionable (CGI)". This page lists evidence by type: Assay-provider ledger (7), Actionable biomarkers (9), Trial mentions (57), and 6 more evidence types, each linked to its source.

Ensembl ENSG00000188641 UniProt Q12882 Matched to Ensembl and UniProt
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Assay-provider ledger Assay-provider ledger 7 Actionable biomarkers Actionable biomarkers 9 Trial mentions Trial mentions 57 Target-disease associations Target-disease associations 360 Vendor sourcing Vendor sourcing 201 Trial-cited literature Trial-cited literature 204 Protein variant mentions Protein variant mentions 58 Literature-extracted relations Literature-extracted relations 73 Assay-provider ledger Assay-provider ledger 7 Actionable biomarkers Actionable biomarkers 9 Trial mentions Trial mentions 57 Target-disease associations Target-disease associations 360 Vendor sourcing Vendor sourcing 201 Trial-cited literature Trial-cited literature 204 Protein variant mentions Protein variant mentions 58 Literature-extracted relations Literature-extracted relations 73

Rows recorded per section (log scale)

1 more section with rows · 3 sections measured, none recorded

Cancer actionable (CGI)

Curated as clinically actionable in cancer by the Cancer Genome Interpreter.

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Evidence over time

Share of that year: what fraction of the trials and papers our biomarker dictionary matched in a year mention DPYD. The denominator is documents that mention any gene, not every registered document, so improving the matcher moves both halves and never rewrites history. Gene named in free-text trial records. A mention, not a validated biomarker. Actionable-biomarker and target-disease-association evidence carries no date in our sources, so it is not on this chart. Publication mentions cover only papers cited by a registered clinical trial, not all of PubMed.

Trial mentions: plotted from 1990 to 2026, the years our matched corpus covers.

Publication mentions: plotted from 1990 to 2023, the years our matched corpus covers. Not plotted: 5 at the structurally incomplete recent edge.

The yearly numbers
DPYD per year, by evidence type, the most recent 10 years, newest first; the chart covers 1990 to 2026. The share is of the trials and papers our biomarker dictionary matched that year, not of the literature at large, and a blank year is one our matched corpus does not cover at all.
Year Trial mentions Share of that year Publication mentions Share of that year
2026 12 of 8,738 0.14% not measured
2025 10 of 8,875 0.11% not measured
2024 9 of 8,597 0.10% not measured
2023 5 of 8,275 0.06% 19 of 11,460 0.17%
2022 2 of 8,285 0.02% 12 of 13,598 0.09%
2021 4 of 8,692 0.05% 12 of 15,045 0.08%
2020 3 of 7,640 0.04% 18 of 14,459 0.12%
2019 3 of 7,300 0.04% 6 of 12,159 0.05%
2018 2 of 6,927 0.03% 14 of 11,854 0.12%
2017 3 of 6,558 0.05% 12 of 11,595 0.10%

Assay-provider ledger (7)

Shown in this order: most recent publication first.

Assay-provider ledger
Company Provider class Validation Papers Most recent publication
The Netherlands Cancer Institute Not a company Clinical validationAnalytical validation 1 May 23, 2017
Agilent Reagent supplier Clinical validationAnalytical validation 1 Date unknown
Coriell Institute for Medical Research Not a company Clinical validationAnalytical validation 1 Date unknown
Illumina Unclassified Clinical validationAnalytical validation 1 Date unknown
KAPA Biosystems Reagent supplier Clinical validationAnalytical validation 1 Date unknown

Actionable biomarkers (9)

Shown in this order: fixed catalogue order, not ranked.

Actionable biomarkers
Alteration Drug Response Disease Source
DPYD splice donor variant "Capecitabine" reduced sensitivity No disease recorded Cancer Genome Interpreter
DPYD (I560S,D949V) "Capecitabine" reduced sensitivity No disease recorded Cancer Genome Interpreter
DPYD splice donor variant Tegafur-uracil (UFT) reduced sensitivity No disease recorded Cancer Genome Interpreter
DPYD biallelic inactivation Flourouracil reduced sensitivity No disease recorded Cancer Genome Interpreter
DPYD (I560S,D949V) Tegafur-uracil (UFT) reduced sensitivity No disease recorded Cancer Genome Interpreter

Trial mentions (57)

Shown in this order: fixed catalogue order, not by date.

Trial mentions
Trial Source
NCT04300361 Trial biospecimen (AACT)
NCT07848568 Trial eligibility (AACT)
NCT06888063 Trial eligibility (AACT)
NCT03127124 Trial eligibility (AACT)
NCT07419464 Trial eligibility (AACT)

Target-disease associations (360)

Shown in this order: fixed catalogue order, not ranked.

Target-disease associations
Disease Therapeutic area Source
8p23.1 microdeletion syndrome genetic, familial or congenital disease Mouse knockout (IMPC)
Abnormality of limbs phenotype GWAS credible sets
Abnormality of the integument phenotype GWAS credible sets
Abnormality of the skeletal system phenotype GWAS credible sets
Alzheimer disease nervous system disease Literature (Europe PMC)

Vendor sourcing (201)

Shown in this order: alphabetical by organization.

Vendor sourcing
Organization Role Tier Evidence Citation
3billion, Inc. (South Korea) Testing lab / CRO (runs the assay) Clinical-testing interpretation submitted (ClinVar)ClinVar clinical-testing submission Canonical splice site: predicted to alter splicing and result in a loss or disruption of normal protein function through protein truncation. Multiple pathoge... View ClinVar record SCV002058930.1
ARUP Laboratories (United States) Testing lab / CRO (runs the assay) Clinical-testing interpretation submitted (ClinVar)ClinVar clinical-testing submission The DPYD c.2846A>T; p.Asp949Val variant (rs67376798, ClinVar Variation ID: 88974) is reported in the literature in multiple individuals affected with recessi... View ClinVar record SCV007330147.1
Abramson Cancer Center Trial sponsor Named in trial exclusion criteriaTrial eligibility criteria : 1. Prior treatment with irinotecan 2. DPYD or UGT1A1 genotype already known 3. Severe renal or hepatic impairment (or unacceptable laboratory values), inc... View trial NCT04736472
Abramson Cancer Center Trial sponsor Named in trial inclusion criteriaTrial eligibility criteria : * Fluent in English * Currently involved in the practice or policy of GI oncology/DPYD testing/FP use/Healthcare Development OR * Prescribed a FP for GI c... View trial NCT06559462
Abramson Cancer Center Trial sponsor Mentioned in trial textTrial free-text mention DPYD View trial NCT04736472

Trial-cited literature (204)

Shown in this order: newest first, then most cited.

Trial-cited literature
Publication Journal Year Citations
Impact of First-of-Its-Kind Patient-Facing Pharmacogenetics Tool on Dosing Decisions and Treatment Outcomes. Clinical pharmacology and therapeutics 2025 0
Clinical Benefits and Utility of Pretherapeutic DPYD and UGT1A1 Testing in Gastrointestinal Cancer: A Secondary Analysis of the PREPARE Randomized Clinical Trial. JAMA network open 2024 23
Reconciling the biomedical data commons and the GDPR: three lessons from the EUCAN ELSI collaboratory. European journal of human genetics : EJHG 2024 11
A Nomogram to Predict Severe Toxicity in DPYD Wild-Type Patients Treated With Capecitabine-Based Anticancer Regimens. Clinical pharmacology and therapeutics 2024 8
Anus preservation in low rectal adenocarcinoma based on MMR/MSI status (APRAM): a study protocol for a randomised, controlled, open-label, multicentre phase III trial. BMC cancer 2024 4

Protein variant mentions (58)

Shown in this order: alphabetical by variant.

Protein variant mentions
Variant Distinct papers Year range Sample papers
p.A11F 1 2013 PMID 23781135
p.A12M 1 2013 PMID 23781135
p.A14M 1 2013 PMID 23781135
p.A15F 1 2013 PMID 23781135
p.A24M 1 2013 PMID 23781135

Literature-extracted relations (73)

Shown in this order: chemicals, then diseases.

Literature-extracted relations
Related entity Kind Source relation label Paper Year
Epoprostenol Chemical associate Impact of First-of-Its-Kind Patient-Facing Pharmacogenetics Tool on Dosing Decisions and Treatment Outcomes. 2025
"Capecitabine" Chemical associate A Nomogram to Predict Severe Toxicity in DPYD Wild-Type Patients Treated With Capecitabine-Based Anticancer Regimens. 2024
Irinotecan Chemical associate Preemptive pharmacogenetic testing to guide chemotherapy dosing in patients with gastrointestinal malignancies: a qualitative study of barriers to implementation. 2022
"Capecitabine" Chemical associate Combined use of 177Lu-DOTATATE and metronomic capecitabine (Lu-X) in FDG-positive gastro-entero-pancreatic neuroendocrine tumors. 2021
"Capecitabine" Chemical associate Evaluation of adverse effects of chemotherapy regimens of 5-fluoropyrimidines derivatives and their association with DPYD polymorphisms in colorectal cancer patients. 2020

Organizations publishing (238)

Shown in this order: most papers first.

Organizations publishing
Organization Type Papers Years
The Netherlands Cancer Institute Hospital 9 2016 to 2024
Utrecht University Academic 8 2016 to 2024
University of Pennsylvania Academic 7 2015 to 2023
Kanagawa Cancer Center Hospital 5 2012 to 2022
Leiden University Medical Center Hospital 5 2018 to 2024

Where DPYD appears

  • biological_process
  • cancer or benign tumor
  • cardiovascular disease
  • disorder of visual system
  • endocrine system disease
  • gastrointestinal disease
  • genetic, familial or congenital disease
  • hematologic disease
  • infectious disease
  • injury, poisoning or other complication
  • integumentary system disease
  • measurement
  • musculoskeletal or connective tissue disease
  • nervous system disease
  • nutritional or metabolic disease
  • phenotype
  • pregnancy or perinatal disease
  • psychiatric disorder
  • respiratory or thoracic disease

334 diseases touched.

Not on this page

Checked, with nothing recorded for this biomarker: fda companion diagnostic assertions, fda biomarker qualification projects, and human sample screening reference.

Browse all biomarker evidence pages