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Gene

BTK

BTK is a gene biomarker in the evidence tier "Cancer actionable (CGI)". This page lists evidence by type: Assay-provider ledger (5), Actionable biomarkers (2), Trial mentions (688), and 7 more evidence types, each linked to its source.

Ensembl ENSG00000010671 UniProt Q06187 Matched to Ensembl and UniProt
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Assay-provider ledger Assay-provider ledger 5 Actionable biomarkers Actionable biomarkers 2 Trial mentions Trial mentions 688 Target-disease associations Target-disease associations 636 Vendor sourcing Vendor sourcing 2,216 Trial-cited literature Trial-cited literature 647 Protein variant mentions Protein variant mentions 47 Human sample screening reference Human sample screening reference 4 Assay-provider ledger Assay-provider ledger 5 Actionable biomarkers Actionable biomarkers 2 Trial mentions Trial mentions 688 Target-disease associations Target-disease associations 636 Vendor sourcing Vendor sourcing 2,216 Trial-cited literature Trial-cited literature 647 Protein variant mentions Protein variant mentions 47 Human sample screening reference Human sample screening reference 4

Rows recorded per section (log scale)

2 more sections with rows · 2 sections measured, none recorded

Cancer actionable (CGI)

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

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The PDF carries up to 50 rows of each section, where the page shows the first few, with the sources listed. Enter a work email and confirm it from the message we send, and the report follows by email.

Evidence over time

Share of that year: what fraction of the trials and papers our biomarker dictionary matched in a year mention BTK. 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. Not plotted: 3 with a planned future start and 3 with no date at all.

Publication mentions: plotted from 1990 to 2023, the years our matched corpus covers. Not plotted: 1 dated before 1990 and 86 at the structurally incomplete recent edge.

The yearly numbers
BTK 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 82 of 8,738 0.94% not measured
2025 85 of 8,875 0.96% not measured
2024 54 of 8,597 0.63% not measured
2023 55 of 8,275 0.66% 70 of 11,460 0.61%
2022 60 of 8,285 0.72% 66 of 13,598 0.49%
2021 86 of 8,692 0.99% 85 of 15,045 0.56%
2020 58 of 7,640 0.76% 62 of 14,459 0.43%
2019 38 of 7,300 0.52% 50 of 12,159 0.41%
2018 35 of 6,927 0.51% 48 of 11,854 0.40%
2017 34 of 6,558 0.52% 38 of 11,595 0.33%

Assay-provider ledger (5)

Shown in this order: most recent publication first.

Assay-provider ledger
Company Provider class Validation Papers Most recent publication
Ebiogen Inc. Reagent supplier Analytical validation 1 May 01, 2017
Full Moon Biosystems Reagent supplier Analytical validation 1 May 01, 2017
EMD Serono Pharma or other Analytical validation 1 Date unknown
IBM Watson Health Pharma or other Analytical validation 1 Date unknown
Merck KGaA Unclassified Analytical validation 1 Date unknown

Actionable biomarkers (2)

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

Actionable biomarkers
Alteration Drug Response Disease Source
BTK (C481) IBRUTINIB responsive Mantle cell lymphoma Cancer Genome Interpreter
BTK (C481S) IBRUTINIB responsive chronic lymphocytic leukemia Cancer Genome Interpreter

Trial mentions (688)

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

Trial mentions
Trial Source
NCT07353905 Trial eligibility (AACT)
NCT04977024 Trial eligibility (AACT)
NCT06879340 Trial eligibility (AACT)
NCT02640209 Trial eligibility (AACT)
NCT07005713 Trial eligibility (AACT)

Target-disease associations (636)

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

Target-disease associations
Disease Therapeutic area Source
Aarskog-Scott syndrome, X-linked genetic, familial or congenital disease Literature (Europe PMC)
Alzheimer disease nervous system disease Literature (Europe PMC)
Anaplastic (Malignant) Meningioma cancer or benign tumor Cancer Gene Census
Andersen-Tawil syndrome genetic, familial or congenital disease Literature (Europe PMC)
Anemia, Hemolytic, Autoimmune hematologic disease Clinical precedence

Vendor sourcing (2,216)

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 Same nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV... View ClinVar record SCV002059035.1
ABF Pharmaceutical Services GmbH Trial collaborator Named in trial exclusion criteriaTrial eligibility criteria : 1. Pregnant (or planning to become pregnant) or lactating female patients 2. Body weight \< 3 kg 3. Underlying malignant disease with Karnofsky/Lansky per... View trial NCT04731298
ABF Pharmaceutical Services GmbH Trial collaborator Mentioned in trial textTrial free-text mention Bruton tyrosine kinase View trial NCT04731298
ADC Therapeutics SA Trial collaborator Named in trial exclusion criteriaTrial eligibility criteria For all patients 1. Current evidence of central nervous system involvement. 2. Unable to generate clonoseq ID specimen for measurable residual disease t... View trial NCT05971251
ADC Therapeutics SA Trial collaborator Named in trial inclusion criteriaTrial eligibility criteria : * Clinicopathological diagnosis of Waldenström Macroglobulinemia * Symptomatic disease meeting criteria for treatment using consensus panel criteria from ... View trial NCT05190705

Trial-cited literature (647)

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

Trial-cited literature
Publication Journal Year Citations
Genomic determinants of response and resistance to pirtobrutinib in relapsed/refractory chronic lymphocytic leukemia. Blood 2026 4
Pirtobrutinib, a Highly Selective, Non-covalent (Reversible) BTKi in R/R Marginal Zone Lymphoma: Phase 1/2 BRUIN Study. Blood advances 2026 1
Tisagenlecleucel in combination with ibrutinib in adults with relapsed and/or refractory large B-cell lymphomas. Blood neoplasia 2026 1
Anti-CD19 antibody tafasitamab therapy for relapsed or refractory diffuse large B-cell lymphoma: a case series. Anti-cancer drugs 2026 1
Effectiveness and Safety of a Supplement Containing a Pharmacologically Active Basidiomycete Mushroom for Chronic Fatigue and Post-COVID-19 Fatigue Syndrome: Protocol for a Randomized Controlled Trial. JMIR research protocols 2026 0

Protein variant mentions (47)

Shown in this order: alphabetical by variant.

Protein variant mentions
Variant Distinct papers Year range Sample papers
p.A428D 4 2022 to 2026 PMID 41055698, PMID 39853273, PMID 38754046
p.C002V 1 2013 PMID 23456977
p.C481F 3 2015 to 2022 PMID 35595730, PMID 28178345, PMID 26182309
p.C481R 3 2015 to 2022 PMID 35595730, PMID 35608822, PMID 26182309
p.C481S 40 2014 to 2026 PMID 41055698, PMID 40550489, PMID 37871300

Human sample screening reference (4)

Shown in this order: alphabetical by variant.

Human sample screening reference
Variant GDC project Disease / site Affected cases Profiled cases Observed frequency 95% interval
p.C481Y TCGA-UCEC Not Reported; Epithelial Neoplasms, NOS; Adenomas and Adenocarcinomas; Cystic, Mucinous and Serous Neoplasms; Corpus uteri; Uterus, NOS 1 559 0.18% 0.03% to 1.01%
p.N484K CPTAC-3 Not Applicable; Transitional Cell Papillomas and Carcinomas; Ductal and Lobular Neoplasms; Adenomas and Adenocarcinomas; Gliomas; Epithelial Neoplasms, NOS; Complex Epithelial Neoplasms; Complex Mixed and Stromal Neoplasms; Lipomatous Neoplasms; Squamous Cell Neoplasms; Myeloid Leukemias; Nevi and Melanomas; Stomach; Other and ill-defined sites in lip, oral cavity and pharynx; Unknown; Colon; Other and unspecified urinary organs; Floor of mouth; Other and unspecified parts of mouth; Gum; Bronchus and lung; Oropharynx; Other and unspecified parts of tongue; Base of tongue; Breast; Other and ill-defined sites; Larynx; Lip; Uterus, NOS; Hematopoietic and reticuloendothelial systems; Kidney; Brain; Skin; Pancreas; Tonsil 1 1,815 0.06% 0.01% to 0.31%
p.R28C EXCEPTIONAL_RESPONDERS-ER Neoplasms, NOS; Complex Mixed and Stromal Neoplasms; Adenomas and Adenocarcinomas; Gliomas; Myomatous Neoplasms; Nevi and Melanomas; Epithelial Neoplasms, NOS; Ductal and Lobular Neoplasms; Squamous Cell Neoplasms; Esophagus; Stomach; Skin; Unknown; Bladder; Connective, subcutaneous and other soft tissues; Breast; Pancreas; Rectum; Other and unspecified female genital organs; Colon; Other and ill-defined sites; Anus and anal canal; Other and ill-defined digestive organs; Ovary; Bronchus and lung; Other and unspecified parts of biliary tract; Brain; Uterus, NOS; Kidney 1 20 5.00% 0.89% to 23.61%
p.R28C TCGA-UCEC Not Reported; Epithelial Neoplasms, NOS; Adenomas and Adenocarcinomas; Cystic, Mucinous and Serous Neoplasms; Corpus uteri; Uterus, NOS 2 559 0.36% 0.10% to 1.30%

Literature-extracted relations (203)

Shown in this order: chemicals, then diseases.

Literature-extracted relations
Related entity Kind Source relation label Paper Year
RITUXIMAB Chemical negative_correlate Ibrutinib plus rituximab vs ibrutinib monotherapy in patients with Waldenström macroglobulinemia: a pooled analysis. 2025
Tyrosine Chemical associate Targeting NADPH Oxidase with APX-115: Suppression of Platelet Activation and Thrombotic Response. 2025
BORTEZOMIB Chemical negative_correlate The addition of bortezomib to rituximab, high-dose cytarabine and dexamethasone in relapsed or refractory mantle cell lymphoma-a randomized, open-label phase III trial of the European mantle cell lymphoma network. 2024
LENALIDOMIDE Chemical negative_correlate Combination of acalabrutinib with lenalidomide and rituximab in relapsed/refractory aggressive B-cell non-Hodgkin lymphoma: a single-arm phase II trial. 2024
ADENOSINE TRIPHOSPHATE Chemical associate Preclinical evidence for the effective use of TL-895, a highly selective and potent second-generation BTK inhibitor, for the treatment of B-cell malignancies. 2023

Organizations publishing (571)

Shown in this order: most papers first.

Organizations publishing
Organization Type Papers Years
Dana-Farber Cancer Institute Other 73 2014 to 2026
Government of the United States of America Government 54 2010 to 2025
The University of Texas System Academic 50 2011 to 2026
Memorial Sloan Kettering Cancer Center Hospital 45 2014 to 2026
Mayo Clinic Hospital 38 2014 to 2025

Where BTK appears

  • animal disease
  • biological_process
  • cancer or benign tumor
  • cardiovascular disease
  • disorder of visual system
  • endocrine system disease
  • gastrointestinal disease
  • genetic, familial or congenital disease
  • hematologic disease
  • immune system 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
  • respiratory or thoracic disease
  • urinary system disease

546 diseases touched.

Not on this page

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

Browse all biomarker evidence pages