Gene
TSC2
TSC2 is a gene biomarker in the evidence tier "Cancer actionable (CGI)". This page lists evidence by type: Assay-provider ledger (13), Actionable biomarkers (6), Trial mentions (25), and 7 more evidence types, each linked to its source.
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Rows recorded per section (log scale)
2 more sections with rows · 2 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 TSC2. 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: 4 at the structurally incomplete recent edge.
The yearly numbers
| 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 | 3 of 8,597 | 0.03% | not measured | |
| 2023 | 3 of 8,275 | 0.04% | 14 of 11,460 | 0.12% |
| 2022 | 4 of 8,285 | 0.05% | 30 of 13,598 | 0.22% |
| 2021 | 2 of 8,692 | 0.02% | 32 of 15,045 | 0.21% |
| 2020 | 0 of 7,640 | 0.00% | 22 of 14,459 | 0.15% |
| 2019 | 1 of 7,300 | 0.01% | 24 of 12,159 | 0.20% |
| 2018 | 2 of 6,927 | 0.03% | 19 of 11,854 | 0.16% |
| 2017 | 3 of 6,558 | 0.05% | 24 of 11,595 | 0.21% |
Showing 10 of 37 years.
Assay-provider ledger (13)
Shown in this order: most recent publication first.
| Company | Provider class | Validation | Papers | Most recent publication |
|---|---|---|---|---|
| AIRA Matrix | Diagnostic provider | Analytical validation | 1 | December 01, 2024 |
| DeepBio | Diagnostic provider | Analytical validation | 1 | December 01, 2024 |
| Exact Biosciences | Diagnostic provider | Analytical validation | 1 | December 01, 2024 |
| Myriad Genetics | Diagnostic provider | Analytical validation | 1 | December 01, 2024 |
| ROCHE | Context dependent | Clinical validationAnalytical validation | 2 | December 01, 2024 |
Showing 5 of 13 assay-provider companies.
Actionable biomarkers (6)
Shown in this order: fixed catalogue order, not ranked.
| Alteration | Drug | Response | Disease | Source |
|---|---|---|---|---|
| TSC2 oncogenic mutation | EVEROLIMUS | response-associated | astrocytoma | Cancer Genome Interpreter |
| TSC2 (E66K) | Tensirolimus | response-associated | endometrial carcinoma | Cancer Genome Interpreter |
| TSC2 (Q1178*) | EVEROLIMUS | response-associated | thyroid carcinoma | Cancer Genome Interpreter |
| TSC2 oncogenic mutation | Src Inhibitors | response-associated | No disease recorded | Cancer Genome Interpreter |
| TSC2 deletion | Src Inhibitors | response-associated | No disease recorded | Cancer Genome Interpreter |
Showing 5 of 6 actionable-biomarker assertions.
Trial mentions (25)
Shown in this order: fixed catalogue order, not by date.
| Trial | Source |
|---|---|
| NCT02646319 | Trial eligibility (AACT) |
| NCT05199402 | Trial eligibility (AACT) |
| NCT05420064 | Trial eligibility (AACT) |
| NCT03817515 | Trial eligibility (AACT) |
| NCT03580239 | Trial eligibility (AACT) |
Showing 5 of 25 trial mentions.
Target-disease associations (529)
Shown in this order: fixed catalogue order, not ranked.
| Disease | Therapeutic area | Source |
|---|---|---|
| 15q11q13 microduplication syndrome | genetic, familial or congenital disease | Mouse knockout (IMPC) |
| APC-related attenuated familial adenomatous polyposis | cancer or benign tumor | Mouse knockout (IMPC) |
| Abnormal cerebral 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 |
Showing 5 of 529 associations.
Vendor sourcing (139)
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 | Intronic variant: previously reported to alter splicing and result in a loss of normal protein fucnction through nonsense-mediated decay (NMD) or protein tru... | View ClinVar record SCV002012234.1 |
| ARUP Laboratories (United States) | Testing lab / CRO (runs the assay) | Clinical-testing interpretation submitted (ClinVar)ClinVar clinical-testing submission | The TSC2 c.3648del; p.Ser1217AlafsTer108 variant, to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 20045... | View ClinVar record SCV004562484.1 |
| AbbVie Inc. | Trial collaborator | Named in trial exclusion criteriaTrial eligibility criteria | : 1. Pregnancy or positive pregnancy test (urine or serum) in females of childbearing potential. Pregnancy test must be performed within 7 days prior to C1D... | View trial NCT07175415 |
| AbbVie Inc. | Trial collaborator | Mentioned in trial textTrial free-text mention | TSC2 | View trial NCT07175415 |
| Ambry Genetics (United States) | Testing lab / CRO (runs the assay) | Clinical-testing interpretation submitted (ClinVar)ClinVar clinical-testing submission | This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein functio... | View ClinVar record SCV000183944.9 |
Showing 5 of 139 sourcing records.
Trial-cited literature (329)
Shown in this order: newest first, then most cited.
| Publication | Journal | Year | Citations |
|---|---|---|---|
| Precision Medicine Program in Chinese Pediatric Patients With Sarcoma. | JCO precision oncology | 2026 | 0 |
| Genetic evaluation of pediatric pituitary adenomas and USP8-related genotype-phenotype correlations in Cushing's disease. | Pituitary | 2025 | 2 |
| Dalpiciclib combined with pyrotinib and endocrine therapy in women with ER-positive, HER2-positive advanced breast cancer: A prospective, multicenter, single-arm, phase 2 trial. | PLoS medicine | 2025 | 1 |
| Two genome-wide interaction loci modify the association of nonsteroidal anti-inflammatory drugs with colorectal cancer. | Science advances | 2024 | 5 |
| Autism Spectrum Disorder: Neurodevelopmental Risk Factors, Biological Mechanism, and Precision Therapy. | International journal of molecular sciences | 2023 | 151 |
Showing 5 of 329 papers.
Protein variant mentions (534)
Shown in this order: alphabetical by variant.
| Variant | Distinct papers | Year range | Sample papers |
|---|---|---|---|
| p.A100V | 1 | 2015 | PMID 25741868 |
| p.A1108V | 1 | 2015 | PMID 25741868 |
| p.A1141T | 1 | 2015 | PMID 25741868 |
| p.A1153T | 1 | 2015 | PMID 25741868 |
| p.A1161T | 1 | 2015 | PMID 25741868 |
Showing 5 of 534 variants.
Human sample screening reference (1)
Shown in this order: alphabetical by variant.
| Variant | GDC project | Disease / site | Affected cases | Profiled cases | Observed frequency | 95% interval |
|---|---|---|---|---|---|---|
| p.Q794* | TCGA-LIHC | Adenomas and Adenocarcinomas; Liver and intrahepatic bile ducts | 1 | 377 | 0.27% | 0.05% to 1.49% |
Literature-extracted relations (96)
Shown in this order: chemicals, then diseases.
| Related entity | Kind | Source relation label | Paper | Year |
|---|---|---|---|---|
| Sirolimus | Chemical | negative_correlate |
Alterations in Polyamine Metabolism in Patients With Lymphangioleiomyomatosis and Tuberous Sclerosis Complex 2-Deficient Cells. | 2019 |
| EVEROLIMUS | Chemical | associate |
PTEN Expression, Not Mutation Status in <i>TSC1, TSC2</i>, or <i>mTOR</i>, Correlates with the Outcome on Everolimus in Patients with Renal Cell Carcinoma Treated on the Randomized RECORD-3 Trial. | 2019 |
| Sirolimus | Chemical | associate |
<i>TSC1/2</i> mutations define a molecular subset of HCC with aggressive behaviour and treatment implication. | 2017 |
| METFORMIN | Chemical | negative_correlate |
Rationale and protocol of the MetNET-1 trial, a prospective, single center, phase II study to evaluate the activity and safety of everolimus in combination with octreotide LAR and metformin in patients with advanced pancreatic neuroendocrine tumors. | 2014 |
| SIMVASTATIN | Chemical | negative_correlate |
Statins in lymphangioleiomyomatosis. Simvastatin and atorvastatin induce differential effects on tuberous sclerosis complex 2-null cell growth and signaling. | 2013 |
Showing 5 of 96 relation assertions.
Organizations publishing (309)
Shown in this order: most papers first.
| Organization | Type | Papers | Years |
|---|---|---|---|
| Memorial Sloan Kettering Cancer Center | Hospital | 17 | 2005 to 2023 |
| Mass General Brigham | Hospital | 16 | 2005 to 2022 |
| Harvard Medical School | Academic | 15 | 2002 to 2022 |
| Government of the United States of America | Government | 11 | 2004 to 2025 |
| Dana-Farber Cancer Institute | Other | 10 | 2009 to 2022 |
Showing 5 of 309 organizations.
Where TSC2 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
- infectious disease
- injury, poisoning or other complication
- integumentary system disease
- measurement
- musculoskeletal or connective tissue disease
- nervous system disease
- nutritional or metabolic disease
- phenotype
- reproductive system or breast disease
- urinary system disease
444 diseases touched.
Not on this page
Checked, with nothing recorded for this biomarker: fda companion diagnostic assertions and fda biomarker qualification projects.