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Gene

SETD2

SETD2 is a gene biomarker in the evidence tier "Cancer actionable (CGI)". This page lists evidence by type: Assay-provider ledger (9), Actionable biomarkers (2), Trial mentions (22), and 6 more evidence types, each linked to its source.

Ensembl ENSG00000181555 UniProt Q9BYW2 Matched to Ensembl and UniProt
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Assay-provider ledger Assay-provider ledger 9 Actionable biomarkers Actionable biomarkers 2 Trial mentions Trial mentions 22 Target-disease associations Target-disease associations 725 Vendor sourcing Vendor sourcing 71 Trial-cited literature Trial-cited literature 120 Protein variant mentions Protein variant mentions 75 Literature-extracted relations Literature-extracted relations 16 Assay-provider ledger Assay-provider ledger 9 Actionable biomarkers Actionable biomarkers 2 Trial mentions Trial mentions 22 Target-disease associations Target-disease associations 725 Vendor sourcing Vendor sourcing 71 Trial-cited literature Trial-cited literature 120 Protein variant mentions Protein variant mentions 75 Literature-extracted relations Literature-extracted relations 16

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 SETD2. 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.

The yearly numbers
SETD2 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 1 of 8,738 0.01% not measured
2025 0 of 8,875 0.00% not measured
2024 2 of 8,597 0.02% not measured
2023 3 of 8,275 0.04% 11 of 11,460 0.10%
2022 1 of 8,285 0.01% 15 of 13,598 0.11%
2021 0 of 8,692 0.00% 17 of 15,045 0.11%
2020 0 of 7,640 0.00% 13 of 14,459 0.09%
2019 1 of 7,300 0.01% 10 of 12,159 0.08%
2018 1 of 6,927 0.01% 6 of 11,854 0.05%
2017 1 of 6,558 0.02% 7 of 11,595 0.06%

Assay-provider ledger (9)

Shown in this order: most recent publication first.

Assay-provider ledger
Company Provider class Validation Papers Most recent publication
AB Applied Biosystems Reagent supplier Clinical validation 1 February 04, 2025
Novozymes (Nanjing, China) Reagent supplier Clinical validation 1 February 04, 2025
Solarbio Reagent supplier Clinical validation 1 February 04, 2025
TAKARA Reagent supplier Clinical validation 1 February 04, 2025
TECHNE Reagent supplier Clinical validation 1 February 04, 2025

Actionable biomarkers (2)

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

Actionable biomarkers
Alteration Drug Response Disease Source
SETD2 deletion Wee1 Inhibitors response-associated No disease recorded Cancer Genome Interpreter
SETD2 oncogenic mutation Wee1 Inhibitors response-associated No disease recorded Cancer Genome Interpreter

Trial mentions (22)

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

Trial mentions
Trial Source
NCT01814449 Trial biospecimen (AACT)
NCT02576665 Trial eligibility (AACT)
NCT00117013 Trial eligibility (AACT)
NCT05121103 Trial eligibility (AACT)
NCT06458244 Trial eligibility (AACT)

Target-disease associations (725)

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

Target-disease associations
Disease Therapeutic area Source
Abnormal facial shape phenotype genomics england
Abnormality of the skeletal system phenotype GWAS credible sets
Acheiropodia genetic, familial or congenital disease Mouse knockout (IMPC)
Acromesomelic dysplasia, Grebe type genetic, familial or congenital disease Mouse knockout (IMPC)
Acromesomelic dysplasia, Hunter-Thomson type genetic, familial or congenital disease Mouse knockout (IMPC)

Vendor sourcing (71)

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 Frameshift: predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple path... View ClinVar record SCV002012007.1
AIDS Malignancy Consortium Trial sponsor Mentioned in trial textTrial free-text mention HIF1 View trial NCT00686842
Ambry Genetics (United States) Testing lab / CRO (runs the assay) Clinical-testing interpretation submitted (ClinVar)ClinVar clinical-testing submission The c.3860A>C (p.Q1287P) alteration is located in exon 3 (coding exon 3) of the SETD2 gene. This alteration results from a A to C substitution at nucleotide ... View ClinVar record SCV000742261.5
Astrazeneca Plc Trial collaborator Mentioned in trial textTrial free-text mention HIF1 View trial NCT02506816
Baylor College of Medicine 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 SCV002515302.1

Trial-cited literature (120)

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

Trial-cited literature
Publication Journal Year Citations
Acquired mutations in patients with relapsed/refractory CLL who progressed in the ALPINE study. Blood advances 2025 14
Evaluation of potential biomarkers for lenvatinib plus pembrolizumab among patients with advanced endometrial cancer: results from Study 111/KEYNOTE-146. Journal for immunotherapy of cancer 2024 17
A Phase II Trial of the WEE1 Inhibitor Adavosertib in SETD2-Altered Advanced Solid Tumor Malignancies (NCI 10170). Cancer research communications 2024 12
The evolution of lung cancer and impact of subclonal selection in TRACERx. Nature 2023 243
Genomic-transcriptomic evolution in lung cancer and metastasis. Nature 2023 173

Protein variant mentions (75)

Shown in this order: alphabetical by variant.

Protein variant mentions
Variant Distinct papers Year range Sample papers
p.A1124V 1 2013 PMID 24267886
p.A197V 1 2015 PMID 25741868
p.A2324S 1 2015 PMID 25741868
p.A50T 1 2015 PMID 25741868
p.A848V 2 2015 to 2016 PMID 26467025, PMID 25741868

Literature-extracted relations (16)

Shown in this order: chemicals, then diseases.

Literature-extracted relations
Related entity Kind Source relation label Paper Year
Disease Progression Disease associate Acquired mutations in patients with relapsed/refractory CLL who progressed in the ALPINE study. 2025
Angina, Stable Disease associate A Phase II Trial of the WEE1 Inhibitor Adavosertib in SETD2-Altered Advanced Solid Tumor Malignancies (NCI 10170). 2024
Carcinoma, Renal Cell Disease associate A Phase II Trial of the WEE1 Inhibitor Adavosertib in SETD2-Altered Advanced Solid Tumor Malignancies (NCI 10170). 2024
Neoplasms Disease associate A Phase II Trial of the WEE1 Inhibitor Adavosertib in SETD2-Altered Advanced Solid Tumor Malignancies (NCI 10170). 2024
Thymoma Disease associate Genomic characterization of thymic epithelial tumors in a real-world dataset. 2023

Organizations publishing (230)

Shown in this order: most papers first.

Organizations publishing
Organization Type Papers Years
Memorial Sloan Kettering Cancer Center Hospital 16 2013 to 2024
The University of Texas System Academic 9 2013 to 2023
Dana-Farber Cancer Institute Other 8 2014 to 2025
Government of the United States of America Government 8 2014 to 2024
Novant Health Hospital 7 2012 to 2022

Where SETD2 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
  • pregnancy or perinatal disease
  • reproductive system or breast disease
  • respiratory or thoracic disease
  • urinary system disease

635 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