Gene
MITF
MITF is a gene biomarker in the evidence tier "Cancer actionable (CGI)". This page lists evidence by type: Assay-provider ledger (17), Actionable biomarkers (1), Trial mentions (4), 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 MITF. 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: 1 at the structurally incomplete recent edge.
MITF has 4 trial mentions across 3 years. That is too few to read as a trend, so the years are listed instead.
The yearly numbers
| Year | Trial mentions | Share of that year | Publication mentions | Share of that year |
|---|---|---|---|---|
| 2026 | 0 of 8,738 | 0.00% | not measured | |
| 2025 | 0 of 8,875 | 0.00% | not measured | |
| 2024 | 2 of 8,597 | 0.02% | not measured | |
| 2023 | 1 of 8,275 | 0.01% | 9 of 11,460 | 0.08% |
| 2022 | 1 of 8,285 | 0.01% | 14 of 13,598 | 0.10% |
| 2021 | 0 of 8,692 | 0.00% | 13 of 15,045 | 0.09% |
| 2020 | 0 of 7,640 | 0.00% | 11 of 14,459 | 0.08% |
| 2019 | 0 of 7,300 | 0.00% | 9 of 12,159 | 0.07% |
| 2018 | 0 of 6,927 | 0.00% | 7 of 11,854 | 0.06% |
| 2017 | 0 of 6,558 | 0.00% | 8 of 11,595 | 0.07% |
Showing 10 of 37 years.
Assay-provider ledger (17)
Shown in this order: most recent publication first.
| Company | Provider class | Validation | Papers | Most recent publication |
|---|---|---|---|---|
| Agilent | Reagent supplier | Clinical validationAnalytical validation | 1 | March 01, 2016 |
| AB Applied Biosystems | Reagent supplier | Clinical validationAnalytical validation | 1 | March 01, 2016 |
| Hussman Institute for Human Genomics (HIHG) Sequencing core, University of Miami | Not a company | Clinical validationAnalytical validation | 1 | March 01, 2016 |
| Illumina | Unclassified | Clinical validationAnalytical validation | 2 | March 01, 2016 |
| ABCAM | Reagent supplier | Analytical validation | 1 | March 01, 2015 |
Showing 5 of 17 assay-provider companies.
Actionable biomarkers (1)
Shown in this order: fixed catalogue order, not ranked.
| Alteration | Drug | Response | Disease | Source |
|---|---|---|---|---|
| MITF amplification | Braf Inhibitors | responsive | cutaneous melanoma | Cancer Genome Interpreter |
Trial mentions (4)
Shown in this order: fixed catalogue order, not by date.
| Trial | Source |
|---|---|
| NCT06638931 | Trial eligibility (AACT) |
| NCT05820087 | Trial eligibility (AACT) |
| NCT05432232 | Trial eligibility (AACT) |
| NCT05420064 | Trial eligibility (AACT) |
Target-disease associations (1,035)
Shown in this order: fixed catalogue order, not ranked.
| Disease | Therapeutic area | Source |
|---|---|---|
| 12q14 microdeletion syndrome | genetic, familial or congenital disease | Mouse knockout (IMPC) |
| 3C syndrome | genetic, familial or congenital disease | Mouse knockout (IMPC) |
| ABCD syndrome | genetic, familial or congenital disease | Mouse knockout (IMPC) |
| ALECT2 amyloidosis | nutritional or metabolic disease | Mouse knockout (IMPC) |
| Abnormality of skin pigmentation | phenotype | GWAS credible sets |
Showing 5 of 1,035 associations.
Vendor sourcing (35)
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 | 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 SCV002058609.1 |
| ARUP Laboratories (United States) | Testing lab / CRO (runs the assay) | Clinical-testing interpretation submitted (ClinVar)ClinVar clinical-testing submission | The MITF c.952G>A; p.Glu318Lys variant (rs149617956, ClinVar variation ID: 29792) is reported in the literature in patients affected with renal cell carcinom... | View ClinVar record SCV004563072.2 |
| Ambry Genetics (United States) | Testing lab / CRO (runs the assay) | Clinical-testing interpretation submitted (ClinVar)ClinVar clinical-testing submission | The p.E318K pathogenic mutation (also known as c.952G>A), located in coding exon 9 of the MITF gene, results from a G to A substitution at nucleotide positio... | View ClinVar record SCV000184481.8 |
| DASA (Brazil) | Testing lab / CRO (runs the assay) | Clinical-testing interpretation submitted (ClinVar)ClinVar clinical-testing submission | NM_001354604.2(MITF):c.1150G>A (p.Ala384Thr) is a missense variant that results in the substitution of alanine with threonine. The variant is present at low ... | View ClinVar record SCV007597477.1 |
| Financiadora de Estudos e Projetos | Trial collaborator | Named in trial inclusion criteriaTrial eligibility criteria | 1. Age 18 years or older. 2. Patients with immunohistochemistry for PD-L1 with a combined positive score (CPS) of 10 or higher. 3. Patients with progressio... | View trial NCT06638931 |
Showing 5 of 35 sourcing records.
Trial-cited literature (127)
Shown in this order: newest first, then most cited.
| Publication | Journal | Year | Citations |
|---|---|---|---|
| Genomic landscape of patients with germline RUNX1 variants and familial platelet disorder with myeloid malignancy. | Blood advances | 2024 | 33 |
| Platelet-Rich Plasma in Dermatology: New Insights on the Cellular Mechanism of Skin Repair and Regeneration. | Life (Basel, Switzerland) | 2023 | 25 |
| Dynamic activity in cis-regulatory elements of leukocytes identifies transcription factor activation and stratifies COVID-19 severity in ICU patients. | Cell reports. Medicine | 2023 | 15 |
| Fibronectin Contributes to a BRAF Inhibitor-driven Invasive Phenotype in Thyroid Cancer through EGR1, Which Can Be Blocked by Inhibition of ERK1/2. | Molecular cancer research : MCR | 2023 | 9 |
| Pucotenlimab in patients with advanced mismatch repair-deficient or microsatellite instability-high solid tumors: A multicenter phase 2 study. | Cell reports. Medicine | 2023 | 8 |
Showing 5 of 127 papers.
Protein variant mentions (22)
Shown in this order: alphabetical by variant.
| Variant | Distinct papers | Year range | Sample papers |
|---|---|---|---|
| p.E208G | 1 | 2015 | PMID 25741868 |
| p.E309K | 1 | 2015 | PMID 25741868 |
| p.G506E | 1 | 2015 | PMID 25741868 |
| p.H151Y | 1 | 2019 | PMID 31015311 |
| p.L106F | 1 | 2016 | PMID 26467025 |
Showing 5 of 22 variants.
Literature-extracted relations (10)
Shown in this order: chemicals, then diseases.
| Related entity | Kind | Source relation label | Paper | Year |
|---|---|---|---|---|
| Ceramides | Chemical | negative_correlate |
Targeting the Sphingosine 1-Phosphate Axis Exerts Potent Antitumor Activity in BRAFi-Resistant Melanomas. | 2019 |
| FLUOXETINE | Chemical | positive_correlate |
R-Fluoxetine Increases Melanin Synthesis Through a 5-HT1A/2A Receptor and p38 MAPK Signaling Pathways. | 2018 |
| METFORMIN | Chemical | negative_correlate |
Inhibition of melanogenesis by the antidiabetic metformin. | 2014 |
| Melanoma | Disease | inhibit |
The Role of PTEN Loss in Immune Escape, Melanoma Prognosis and Therapy Response. | 2020 |
| Melanoma | Disease | associate |
CDKN2A and BAP1 germline mutations predispose to melanoma and mesothelioma. | 2016 |
Showing 5 of 10 relation assertions.
Organizations publishing (158)
Shown in this order: most papers first.
| Organization | Type | Papers | Years |
|---|---|---|---|
| Memorial Sloan Kettering Cancer Center | Hospital | 7 | 2002 to 2021 |
| Dana-Farber Cancer Institute | Other | 5 | 2012 to 2021 |
| Mass General Brigham | Hospital | 5 | 2006 to 2021 |
| Government of the United States of America | Government | 4 | 2013 to 2024 |
| Harris Health System | Hospital | 3 | 2014 to 2017 |
Showing 5 of 158 organizations.
Where MITF appears
- 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
- urinary system disease
964 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.