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Gene

NOTCH1

NOTCH1 is a gene biomarker in the evidence tier "Cancer actionable (CGI)". This page lists evidence by type: Assay-provider ledger (33), Actionable biomarkers (12), Trial mentions (39), and 7 more evidence types, each linked to its source.

Ensembl ENSG00000148400 UniProt P46531 Matched to Ensembl and UniProt
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Assay-provider ledger Assay-provider ledger 33 Actionable biomarkers Actionable biomarkers 12 Trial mentions Trial mentions 39 Target-disease associations Target-disease associations 866 Vendor sourcing Vendor sourcing 134 Trial-cited literature Trial-cited literature 506 Protein variant mentions Protein variant mentions 282 Human sample screening reference Human sample screening reference 1 Assay-provider ledger Assay-provider ledger 33 Actionable biomarkers Actionable biomarkers 12 Trial mentions Trial mentions 39 Target-disease associations Target-disease associations 866 Vendor sourcing Vendor sourcing 134 Trial-cited literature Trial-cited literature 506 Protein variant mentions Protein variant mentions 282 Human sample screening reference Human sample screening reference 1

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 NOTCH1. 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: 1 with no date at all.

Publication mentions: plotted from 1990 to 2023, the years our matched corpus covers. Not plotted: 16 at the structurally incomplete recent edge.

The yearly numbers
NOTCH1 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 3 of 8,738 0.03% not measured
2025 6 of 8,875 0.07% not measured
2024 2 of 8,597 0.02% not measured
2023 1 of 8,275 0.01% 33 of 11,460 0.29%
2022 3 of 8,285 0.04% 57 of 13,598 0.42%
2021 3 of 8,692 0.03% 57 of 15,045 0.38%
2020 0 of 7,640 0.00% 47 of 14,459 0.33%
2019 2 of 7,300 0.03% 38 of 12,159 0.31%
2018 2 of 6,927 0.03% 35 of 11,854 0.30%
2017 3 of 6,558 0.05% 29 of 11,595 0.25%

Showing 10 of 37 years.

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Assay-provider ledger (33)

Shown in this order: most recent publication first.

Assay-provider ledger
Company Provider class Validation Papers Most recent publication
Life Technologies Reagent supplier Clinical validation 1 August 26, 2025
QIAGEN Reagent supplier Clinical validationAnalytical validation 4 August 26, 2025 +1 undated
THERMO FISHER SCIENTIFIC (Click-iT EdU kit, TaqMan Low-Density Array reagents, ExpressionSuite/DataAssist software) Reagent supplier Clinical validation 1 August 26, 2025
Promega Reagent supplier Analytical validation 1 November 08, 2021
Thermo Fisher Reagent supplier Analytical validation 2 November 08, 2021

Showing 5 of 33 assay-provider companies.

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Actionable biomarkers (12)

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

Actionable biomarkers
Alteration Drug Response Disease Source
NOTCH1 oncogenic mutation Gamma Secretase Inhibitors response-associated Mantle cell lymphoma Cancer Genome Interpreter
NOTCH1 activating mutation in Cterm-PEST domain Gamma Secretase Inhibitor + Mtor Inhibitors response-associated acute lymphoblastic leukemia Cancer Genome Interpreter
NOTCH1 activating mutation in Cterm-PEST domain Gamma Secretase Inhibitors response-associated acute lymphoblastic leukemia Cancer Genome Interpreter
NOTCH1 activating mutation in Cterm-PEST domain Gamma Secretase Inhibitor + Cdk4 Inhibitors response-associated acute lymphoblastic leukemia Cancer Genome Interpreter
NOTCH1 fusion Gamma Secretase Inhibitors response-associated acute lymphoblastic leukemia Cancer Genome Interpreter

Showing 5 of 12 actionable-biomarker assertions.

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Trial mentions (39)

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

Trial mentions
Trial Source
NCT02553304 Trial biospecimen (AACT)
NCT02724358 Trial eligibility (AACT)
NCT01703572 Trial eligibility (AACT)
NCT05495464 Trial eligibility (AACT)
NCT06686108 Trial eligibility (AACT)

Showing 5 of 39 trial mentions.

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Target-disease associations (866)

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

Target-disease associations
Disease Therapeutic area Source
22q11.2 deletion syndrome cardiovascular disease Mouse knockout (IMPC)
AIDS dementia infectious disease Literature (Europe PMC)
Abdominal Aortic Aneurysm cardiovascular disease Literature (Europe PMC)
Abnormal cardiovascular system morphology phenotype Variant curation (ClinVar / EVA)
Abnormal heart morphology phenotype Variant curation (ClinVar / EVA)

Showing 5 of 866 associations.

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Vendor sourcing (134)

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 The variant is not observed in the gnomAD v2.1.1 dataset. Predicted Consequence/Location: Stop-gained (nonsense): predicted to result in a loss or disruption... View ClinVar record SCV005904944.1
ARUP Laboratories (United States) Testing lab / CRO (runs the assay) Clinical-testing interpretation submitted (ClinVar)ClinVar clinical-testing submission The NOTCH1 c.2636G>A; p.Arg879Gln variant (rs368011392) is reported in the literature in an individual affected with hypoplastic left heart syndrome (Kerstje... View ClinVar record SCV004563226.1
Acerta Pharma BV (Netherlands) Trial collaborator Named in trial inclusion criteriaTrial eligibility criteria : 1. Confirmed diagnosis of mantle cell lymphoma by hematopathology. MCL should have CD20 positivity (by flow or IHC in tissue or in BM) with presence of ch... View trial NCT05495464
Acerta Pharma BV (Netherlands) Trial collaborator Mentioned in trial textTrial free-text mention NOTCH1 View trial NCT05495464
Acerta Pharma BV (Netherlands) Trial sponsor Named in trial inclusion criteriaTrial eligibility criteria : * Men and women 18 years of age and older with histologically confirmed disease. * Active disease as defined by at least one of the following (IWCLL conse... View trial NCT02337829

Showing 5 of 134 sourcing records.

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Trial-cited literature (506)

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
Endothelial dysfunction in Fabry disease: retinal biomarkers link cardiac GLA gene variants with chronic inflammation. NPJ genomic medicine 2026 0
Acquired mutations in patients with relapsed/refractory CLL who progressed in the ALPINE study. Blood advances 2025 14
Identification of the Notch ligand DLK1 as an immunotherapeutic target and regulator of tumor cell plasticity and chemoresistance in adrenocortical carcinoma. Nature communications 2025 8
Buparlisib and Paclitaxel in Patients with Head and Neck Squamous Cell Carcinoma: Immunogenomic Biomarkers of Efficacy from the BERIL-1 Study. Targeted oncology 2025 7

Showing 5 of 506 papers.

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Protein variant mentions (282)

Shown in this order: alphabetical by variant.

Protein variant mentions
Variant Distinct papers Year range Sample papers
p.A1113V 1 2015 PMID 25741868
p.A1125V 1 2015 PMID 25741868
p.A1135V 1 2015 PMID 25741868
p.A1325D 1 2015 PMID 25741868
p.A1338V 1 2015 PMID 25741868

Showing 5 of 282 variants.

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Human sample screening reference (1)

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.V1721M TARGET-ALL-P2 Lymphoid Leukemias; Hematopoietic and reticuloendothelial systems 3 768 0.39% 0.13% to 1.14%

Literature-extracted relations (87)

Shown in this order: chemicals, then diseases.

Literature-extracted relations
Related entity Kind Source relation label Paper Year
BORTEZOMIB Chemical negative_correlate The New Therapeutic Strategies in Pediatric T-Cell Acute Lymphoblastic Leukemia. 2021
THALIDOMIDE Chemical negative_correlate Thalidomide-induced angiopoietin 2, Notch1 and Dll4 downregulation under hypoxic condition in tissues with gastrointestinal vascular malformation and human umbilical vein endothelial cells. 2014
Alemtuzumab Chemical associate NOTCH1, SF3B1, and TP53 mutations in fludarabine-refractory CLL patients treated with alemtuzumab: results from the CLL2H trial of the GCLLSG. 2013
THALIDOMIDE Chemical positive_correlate The role of HIF-1, angiopoietin-2, Dll4 and Notch1 in bleeding gastrointestinal vascular malformations and thalidomide-associated actions: a pilot in vivo study. 2011
Adrenocortical Carcinoma Disease associate Identification of the Notch ligand DLK1 as an immunotherapeutic target and regulator of tumor cell plasticity and chemoresistance in adrenocortical carcinoma. 2025

Showing 5 of 87 relation assertions.

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Organizations publishing (499)

Shown in this order: most papers first.

Organizations publishing
Organization Type Papers Years
Dana-Farber Cancer Institute Other 26 2011 to 2025
The University of Texas System Academic 26 2009 to 2026
Memorial Sloan Kettering Cancer Center Hospital 22 2013 to 2026
Government of the United States of America Government 20 2013 to 2023
Mass General Brigham Hospital 17 2012 to 2022

Showing 5 of 499 organizations.

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Where NOTCH1 appears

  • animal disease
  • biological_process
  • cancer or benign tumor
  • cardiovascular disease
  • disorder of ear
  • 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
  • pregnancy or perinatal disease
  • reproductive system or breast disease
  • respiratory or thoracic disease
  • urinary system disease

754 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