Gene
KMT2D
KMT2D is a gene biomarker in the evidence tier "Cancer actionable (CGI)". This page lists evidence by type: Assay-provider ledger (25), Actionable biomarkers (1), Trial mentions (23), and 6 more evidence types, each linked to its source.
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Rows recorded per section (log scale)
1 more section with rows · 3 sections measured, none recorded
Cancer actionable (CGI)
Evidence over time
Share of that year: what fraction of the trials and papers our biomarker dictionary matched in a year mention KMT2D. 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: 6 at the structurally incomplete recent edge.
The yearly numbers
| Year | Trial mentions | Share of that year | Publication mentions | Share of that year |
|---|---|---|---|---|
| 2026 | 3 of 8,738 | 0.03% | not measured | |
| 2025 | 2 of 8,875 | 0.02% | not measured | |
| 2024 | 3 of 8,597 | 0.03% | not measured | |
| 2023 | 2 of 8,275 | 0.02% | 18 of 11,460 | 0.16% |
| 2022 | 1 of 8,285 | 0.01% | 17 of 13,598 | 0.13% |
| 2021 | 3 of 8,692 | 0.03% | 23 of 15,045 | 0.15% |
| 2020 | 4 of 7,640 | 0.05% | 24 of 14,459 | 0.17% |
| 2019 | 2 of 7,300 | 0.03% | 12 of 12,159 | 0.10% |
| 2018 | 0 of 6,927 | 0.00% | 10 of 11,854 | 0.08% |
| 2017 | 1 of 6,558 | 0.02% | 19 of 11,595 | 0.16% |
Showing 10 of 37 years.
Assay-provider ledger (25)
Shown in this order: most recent publication first.
| Company | Provider class | Validation | Papers | Most recent publication |
|---|---|---|---|---|
| QIAGEN | Reagent supplier | Clinical validation | 2 | January 01, 2026 |
| THERMO FISHER SCIENTIFIC (Click-iT EdU kit, TaqMan Low-Density Array reagents, ExpressionSuite/DataAssist software) | Reagent supplier | Clinical validationAnalytical validation | 3 | January 01, 2026 |
| Life Technologies | Reagent supplier | Clinical validation | 1 | August 26, 2025 |
| 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 | 1 | February 18, 2025 |
Showing 5 of 25 assay-provider companies.
Actionable biomarkers (1)
Shown in this order: fixed catalogue order, not ranked.
| Alteration | Drug | Response | Disease | Source |
|---|---|---|---|---|
| MLL2 oncogenic mutation | Bicalutamide | response-associated | squamous cell lung carcinoma | Cancer Genome Interpreter |
Trial mentions (23)
Shown in this order: fixed catalogue order, not by date.
| Trial | Source |
|---|---|
| NCT03855631 | Trial biospecimen (AACT) |
| NCT06357676 | Trial eligibility (AACT) |
| NCT05379972 | Trial eligibility (AACT) |
| NCT05861050 | Trial eligibility (AACT) |
| NCT07257055 | Trial eligibility (AACT) |
Showing 5 of 23 trial mentions.
Target-disease associations (534)
Shown in this order: fixed catalogue order, not ranked.
| Disease | Therapeutic area | Source |
|---|---|---|
| Abnormal pinna morphology | phenotype | Variant curation (ClinVar / EVA) |
| Abnormality of the nervous system | phenotype | Variant curation (ClinVar / EVA) |
| Adenoid Cystic Breast Carcinoma | cancer or benign tumor | Cancer Gene Census |
| Adrenal Gland Neuroblastoma | cancer or benign tumor | Cancer Gene Census |
| Ampulla of Vater Carcinoma | cancer or benign tumor | Cancer Gene Census |
Showing 5 of 534 associations.
Vendor sourcing (126)
Shown in this order: alphabetical by organization.
| Organization | Role | Tier | Evidence | Citation |
|---|---|---|---|---|
| 3billion, Inc. (South Korea) | Testing lab / CRO (runs the assay) | Clinical-testing interpretation submitted (ClinVar)ClinVar clinical-testing submission | Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. M... | View ClinVar record SCV002011927.1 |
| A.O.U. Città della Salute e della Scienza | Trial sponsor | Named in trial exclusion criteriaTrial eligibility criteria | * Age \< 18 years * Absolute contraindications to ALR techniques (uncorrectable coagulopathies, known allergy to local anesthetics, technical impossibility... | View trial NCT07072286 |
| A.O.U. Città della Salute e della Scienza | Trial sponsor | Mentioned in trial textTrial free-text mention | ALR | View trial NCT07072286 |
| ARUP Laboratories (United States) | Testing lab / CRO (runs the assay) | Clinical-testing interpretation submitted (ClinVar)ClinVar clinical-testing submission | The KMT2D c.12463C>A; p.Pro4155Thr variant (rs200413503) is reported in the literature in a family affected with ventricular septal defect (Izarzugaza 2020).... | View ClinVar record SCV004562681.1 |
| 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 |
Showing 5 of 126 sourcing records.
Trial-cited literature (154)
Shown in this order: newest first, then most cited.
| Publication | Journal | Year | Citations |
|---|---|---|---|
| Toripalimab Plus Chemotherapy as a First-Line Therapy for Extensive-Stage Small Cell Lung Cancer: The Phase 3 EXTENTORCH Randomized Clinical Trial. | JAMA oncology | 2025 | 61 |
| Genomic characterization and immunotherapy for microsatellite instability-high in cholangiocarcinoma. | BMC medicine | 2024 | 38 |
| Genomic landscape of patients with germline RUNX1 variants and familial platelet disorder with myeloid malignancy. | Blood advances | 2024 | 33 |
| Targeted agents plus CHOP compared with CHOP as the first-line treatment for newly diagnosed patients with peripheral T-cell lymphoma (GUIDANCE-03): an open-label, multicentre phase 2 clinical trial. | The Lancet regional health. Western Pacific | 2024 | 10 |
| Selinexor With Anti-PD-1 Antibody as a Potentially Effective Regimen for Patients With Natural Killer/T-Cell Lymphoma Failing Prior L-Asparaginase and PD-1 Blockade. | The oncologist | 2024 | 10 |
Showing 5 of 154 papers.
Protein variant mentions (289)
Shown in this order: alphabetical by variant.
| Variant | Distinct papers | Year range | Sample papers |
|---|---|---|---|
| p.A180S | 1 | 2015 | PMID 25741868 |
| p.A2101V | 1 | 2015 | PMID 25741868 |
| p.A2147V | 1 | 2015 | PMID 25741868 |
| p.A2379V | 1 | 2015 | PMID 25741868 |
| p.A2434D | 1 | 2015 | PMID 25741868 |
Showing 5 of 289 variants.
Literature-extracted relations (24)
Shown in this order: chemicals, then diseases.
| Related entity | Kind | Source relation label | Paper | Year |
|---|---|---|---|---|
| Squamous Cell Carcinoma of Head and Neck | Disease | associate |
Clinical and genomic characterization of chemoradiation-resistant HPV-positive oropharyngeal squamous cell carcinoma. | 2024 |
| Cholangiocarcinoma | Disease | associate |
Genomic characterization and immunotherapy for microsatellite instability-high in cholangiocarcinoma. | 2024 |
| Heart Defects, Congenital | Disease | associate |
Contribution of Previously Unrecognized RNA Splice-Altering Variants to Congenital Heart Disease. | 2023 |
| Calcinosis Cutis | Disease | associate |
Epigenetic gene alterations in metastatic solid tumours: results from the prospective precision medicine MOSCATO and MATCH-R trials. | 2022 |
| Neoplasms | Disease | associate |
Epigenetic gene alterations in metastatic solid tumours: results from the prospective precision medicine MOSCATO and MATCH-R trials. | 2022 |
Showing 5 of 24 relation assertions.
Organizations publishing (268)
Shown in this order: most papers first.
| Organization | Type | Papers | Years |
|---|---|---|---|
| Memorial Sloan Kettering Cancer Center | Hospital | 25 | 2014 to 2023 |
| The University of Texas System | Academic | 13 | 2017 to 2023 |
| Dana-Farber Cancer Institute | Other | 11 | 2012 to 2023 |
| Government of the United States of America | Government | 11 | 2014 to 2024 |
| Harvard Medical School | Academic | 9 | 2015 to 2024 |
Showing 5 of 268 organizations.
Where KMT2D 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
- immune system disease
- infectious disease
- injury, poisoning or other complication
- measurement
- nervous system disease
- nutritional or metabolic disease
- phenotype
- reproductive system or breast disease
- urinary system disease
458 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.