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Gene

NOTCH2

NOTCH2 is a gene biomarker in the evidence tier "Cancer actionable (CGI)". This page lists evidence by type: Assay-provider ledger (15), Actionable biomarkers (4), Trial mentions (6), and 6 more evidence types, each linked to its source.

Ensembl ENSG00000134250 UniProt Q04721 Matched to Ensembl and UniProt
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Assay-provider ledger Assay-provider ledger 15 Actionable biomarkers Actionable biomarkers 4 Trial mentions Trial mentions 6 Target-disease associations Target-disease associations 668 Vendor sourcing Vendor sourcing 45 Trial-cited literature Trial-cited literature 130 Protein variant mentions Protein variant mentions 89 Literature-extracted relations Literature-extracted relations 10 Assay-provider ledger Assay-provider ledger 15 Actionable biomarkers Actionable biomarkers 4 Trial mentions Trial mentions 6 Target-disease associations Target-disease associations 668 Vendor sourcing Vendor sourcing 45 Trial-cited literature Trial-cited literature 130 Protein variant mentions Protein variant mentions 89 Literature-extracted relations Literature-extracted relations 10

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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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 NOTCH2. 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: 3 at the structurally incomplete recent edge.

NOTCH2 has 6 trial mentions across 5 years. That is too few to read as a trend, so the years are listed instead.

The yearly numbers
NOTCH2 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 0 of 8,738 0.00% not measured
2025 1 of 8,875 0.01% not measured
2024 1 of 8,597 0.01% not measured
2023 2 of 8,275 0.02% 7 of 11,460 0.06%
2022 0 of 8,285 0.00% 7 of 13,598 0.05%
2021 0 of 8,692 0.00% 15 of 15,045 0.10%
2020 1 of 7,640 0.01% 17 of 14,459 0.12%
2019 0 of 7,300 0.00% 12 of 12,159 0.10%
2018 0 of 6,927 0.00% 13 of 11,854 0.11%
2017 0 of 6,558 0.00% 5 of 11,595 0.04%

Assay-provider ledger (15)

Shown in this order: most recent publication first.

Assay-provider ledger
Company Provider class Validation Papers Most recent publication
Advanced Molecular Diagnostic Laboratory, Princess Margaret Cancer Centre, University Health Network Not a company Analytical validation 1 February 18, 2025
Agilent Reagent supplier Analytical validation 2 February 18, 2025
BC Cancer Research Institute (Lab#2) Not a company Analytical validation 1 February 18, 2025
Integrated DNA Technologies Reagent supplier Analytical validation 1 February 18, 2025
Sanofi R&D Pharma or other Clinical validation 1 June 07, 2018

Actionable biomarkers (4)

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

Actionable biomarkers
Alteration Drug Response Disease Source
NOTCH2 activating mutation (missense in TAD or truncating in Cterm-PEST domain) MK-0752 response-associated acute lymphoblastic leukemia Cancer Genome Interpreter
NOTCH2 activating mutation (missense in TAD or truncating in Cterm-PEST domain) MK-0752 response-associated acute myeloid leukemia Cancer Genome Interpreter
NOTCH2 activating mutation (missense in TAD or truncating in Cterm-PEST domain) MK-0752 response-associated breast adenocarcinoma Cancer Genome Interpreter
NOTCH2 fusion Gamma Secretase Inhibitors response-associated breast adenocarcinoma Cancer Genome Interpreter

Trial mentions (6)

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

Trial mentions
Trial Source
NCT05529069 Trial eligibility (AACT)
NCT06357676 Trial eligibility (AACT)
NCT06656221 Trial eligibility (AACT)
NCT02576665 Trial eligibility (AACT)
NCT05861050 Trial eligibility (AACT)

Target-disease associations (668)

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

Target-disease associations
Disease Therapeutic area Source
12q14 microdeletion syndrome genetic, familial or congenital disease Mouse knockout (IMPC)
Acromesomelic dysplasia, Grebe type genetic, familial or congenital disease Mouse knockout (IMPC)
Adrenal Gland Neuroblastoma cancer or benign tumor Cancer Gene Census
Alagille syndrome cardiovascular disease clingen
Alagille syndrome cardiovascular disease Literature (Europe PMC)

Vendor sourcing (45)

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. Frameshift: predicted to result in a loss or disruption of normal protein function through nonsense... View ClinVar record SCV002521503.1
Ambry Genetics (United States) Testing lab / CRO (runs the assay) Clinical-testing interpretation submitted (ClinVar)ClinVar clinical-testing submission The c.6079A>G (p.K2027E) alteration is located in exon 34 (coding exon 34) of the NOTCH2 gene. This alteration results from a A to G substitution at nucleoti... View ClinVar record SCV000740745.4
Baylor College of Medicine Testing lab / CRO (runs the assay) Clinical-testing interpretation submitted (ClinVar)ClinVar clinical-testing submission PM2, PP3 View ClinVar record SCV005911516.1
Children's Hospital of Philadelphia Testing lab / CRO (runs the assay) Clinical-testing interpretation submitted (ClinVar)ClinVar clinical-testing submission No supporting text recorded; see the citation. View ClinVar record SCV000258192.5
City of Hope Medical Center Trial sponsor Named in trial inclusion criteriaTrial eligibility criteria : * Documented informed consent of the participant and/or legally authorized representative * Assent, when appropriate, will be obtained per institutiona... View trial NCT05861050

Trial-cited literature (130)

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

Trial-cited literature
Publication Journal Year Citations
Predictive biomarkers for immunotherapy response in extensive-stage SCLC. Journal of cancer research and clinical oncology 2024 27
Distinctive field effects of smoking and lung cancer case-control status on bronchial basal cell growth and signaling. Respiratory research 2024 4
Impact of genome build on RNA-seq interpretation and diagnostics. medRxiv : the preprint server for health sciences 2024 0
Lung cancer immunotherapy: progress, pitfalls, and promises. Molecular cancer 2023 839
Clinical impact of ibrutinib plus R-CHOP in untreated DLBCL coexpressing BCL2 and MYC in the phase 3 PHOENIX trial. Blood advances 2023 41

Protein variant mentions (89)

Shown in this order: alphabetical by variant.

Protein variant mentions
Variant Distinct papers Year range Sample papers
p.A2018S 1 2015 PMID 25741868
p.A2188T 1 2015 PMID 25741868
p.A2397G 1 2015 PMID 25741868
p.A2448S 1 2015 PMID 25741868
p.A3S 1 2015 PMID 25741868

Literature-extracted relations (10)

Shown in this order: chemicals, then diseases.

Literature-extracted relations
Related entity Kind Source relation label Paper Year
Adenocarcinoma of Lung Disease associate Distinctive field effects of smoking and lung cancer case-control status on bronchial basal cell growth and signaling. 2024
Melanoma Disease associate Whole-genome sequencing of acral melanoma reveals genomic complexity and diversity. 2020
Lymphoma, Large B-Cell, Diffuse Disease associate Targeted sequencing in DLBCL, molecular subtypes, and outcomes: a Haematological Malignancy Research Network report. 2020
Alagille Syndrome Disease associate Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification. 2019
Breast Neoplasms Disease associate Identifying Circulating Tumor DNA Mutation Profiles in Metastatic Breast Cancer Patients with Multiline Resistance. 2018

Organizations publishing (195)

Shown in this order: most papers first.

Organizations publishing
Organization Type Papers Years
Dana-Farber Cancer Institute Other 7 2012 to 2020
Government of the United States of America Government 7 2009 to 2023
Harvard Medical School Academic 5 2015 to 2020
Memorial Sloan Kettering Cancer Center Hospital 5 2015 to 2019
The University of Texas System Academic 5 2014 to 2022

Where NOTCH2 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
  • measurement
  • musculoskeletal or connective tissue disease
  • nervous system disease
  • nutritional or metabolic disease
  • phenotype
  • reproductive system or breast disease
  • respiratory or thoracic disease
  • urinary system disease

602 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