Gene
TSC1
TSC1 is a gene biomarker in the evidence tier "Cancer actionable (CGI)". This page lists evidence by type: Assay-provider ledger (4), Actionable biomarkers (6), Trial mentions (143), and 7 more evidence types, each linked to its source.
Search trials, drugs, companies and investigators, and follow each one to the others. Individual plan, $249/seat/mo. Card required.
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 TSC1. 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: 9 at the structurally incomplete recent edge.
The yearly numbers
| Year | Trial mentions | Share of that year | Publication mentions | Share of that year |
|---|---|---|---|---|
| 2026 | 6 of 8,738 | 0.07% | not measured | |
| 2025 | 8 of 8,875 | 0.09% | not measured | |
| 2024 | 6 of 8,597 | 0.07% | not measured | |
| 2023 | 9 of 8,275 | 0.11% | 10 of 11,460 | 0.09% |
| 2022 | 13 of 8,285 | 0.16% | 29 of 13,598 | 0.21% |
| 2021 | 12 of 8,692 | 0.14% | 27 of 15,045 | 0.18% |
| 2020 | 10 of 7,640 | 0.13% | 16 of 14,459 | 0.11% |
| 2019 | 9 of 7,300 | 0.12% | 19 of 12,159 | 0.16% |
| 2018 | 6 of 6,927 | 0.09% | 25 of 11,854 | 0.21% |
| 2017 | 10 of 6,558 | 0.15% | 24 of 11,595 | 0.21% |
Showing 10 of 37 years.
Assay-provider ledger (4)
Shown in this order: most recent publication first.
| Company | Provider class | Validation | Papers | Most recent publication |
|---|---|---|---|---|
| QIAGEN | Reagent supplier | Clinical validation | 1 | October 01, 2019 |
| THERMO FISHER SCIENTIFIC (Click-iT EdU kit, TaqMan Low-Density Array reagents, ExpressionSuite/DataAssist software) | Reagent supplier | Clinical validation | 1 | October 01, 2019 |
| Foundation Medicine | Diagnostic provider | No clinical or analytical validation recorded for this pair | 1 | September 01, 2014 |
| CDI Laboratories | Reagent supplier | Clinical validationAnalytical validation | 1 | Date unknown |
Actionable biomarkers (6)
Shown in this order: fixed catalogue order, not ranked.
| Alteration | Drug | Response | Disease | Source |
|---|---|---|---|---|
| TSC1 oncogenic mutation | EVEROLIMUS | response-associated | astrocytoma | Cancer Genome Interpreter |
| TSC1 oncogenic mutation | EVEROLIMUS | response-associated | gastric carcinoma | Cancer Genome Interpreter |
| TSC1 deletion | EVEROLIMUS | response-associated | renal carcinoma | Cancer Genome Interpreter |
| TSC1 oncogenic mutation | EVEROLIMUS | response-associated | renal carcinoma | Cancer Genome Interpreter |
| TSC1 oncogenic mutation | EVEROLIMUS | response-associated | sarcoma | Cancer Genome Interpreter |
Showing 5 of 6 actionable-biomarker assertions.
Trial mentions (143)
Shown in this order: fixed catalogue order, not by date.
| Trial | Source |
|---|---|
| NCT01658345 | Trial biospecimen (AACT) |
| NCT05676099 | Trial biospecimen (AACT) |
| NCT05450822 | Trial biospecimen (AACT) |
| NCT02461459 | Trial biospecimen (AACT) |
| NCT02451696 | Trial eligibility (AACT) |
Showing 5 of 143 trial mentions.
Target-disease associations (495)
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) |
| Adenoma sebaceum | phenotype | Variant curation (ClinVar / EVA) |
| Alzheimer disease | nervous system disease | Literature (Europe PMC) |
| Anal Squamous Cell Carcinoma | cancer or benign tumor | Cancer Gene Census |
Showing 5 of 495 associations.
Vendor sourcing (612)
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 SCV002058365.1 |
| AM–Pharma (Netherlands) | Trial sponsor | Named in trial exclusion criteriaTrial eligibility criteria | : 1. a) At sites where enrolment of 'moderate' CKD patients is allowed, patients with 'severe' CKD defined as a pre-AKI reference eGFR \<25 mL/min/1.73 m2 a... | View trial NCT04411472 |
| AM–Pharma (Netherlands) | Trial sponsor | Mentioned in trial textTrial free-text mention | TSC | View trial NCT04411472 |
| ARUP Laboratories (United States) | Testing lab / CRO (runs the assay) | Clinical-testing interpretation submitted (ClinVar)ClinVar clinical-testing submission | The TSC1 c.1745C>T; p.Thr582Ile variant (rs886063623), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: ... | View ClinVar record SCV001471943.2 |
| 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 |
Showing 5 of 612 sourcing records.
Trial-cited literature (313)
Shown in this order: newest first, then most cited.
| Publication | Journal | Year | Citations |
|---|---|---|---|
| Finding the optimal regimen for <i>Mycobacteroides abscessus</i> treatment (FOR<i>Ma</i>T) in people with <i>Mycobacteroides abscessus</i> pulmonary disease: a multicentre, randomised, multi-arm, adaptive platform trial. | BMJ open | 2025 | 7 |
| Resective Surgery for Drug-Resistant Epilepsy in Patients With Tuberous Sclerosis Complex: A Prospective Nationwide Multicenter Cohort Study. | Neurology | 2025 | 3 |
| A randomized trial of adapted versus standard versions the transdiagnostic intervention for sleep and circadian dysfunction (TSC) implemented via facilitation and delivered by community mental health providers using train-the-trainer. | Implementation science : IS | 2025 | 2 |
| Co-Boost: boosting and guiding neuroplasticity by combining ketamine with neurofeedback-assisted learning-towards an individualised and integrated pharmaco-psychotherapy for cocaine addiction: study protocol for a randomised, placebo-controlled, double-blind, parallel-group, single-centre trial. | Trials | 2025 | 1 |
| StOPping Hypertension and imprOving Children's Lives after KidnEy TranSplantation (SOPHOCLES): study protocol for a randomized controlled multicenter trial. | Trials | 2025 | 1 |
Showing 5 of 313 papers.
Protein variant mentions (245)
Shown in this order: alphabetical by variant.
| Variant | Distinct papers | Year range | Sample papers |
|---|---|---|---|
| p.A1011E | 1 | 2015 | PMID 25741868 |
| p.A1129V | 2 | 2015 | PMID 25741868, PMID 26580448 |
| p.A260V | 1 | 2015 | PMID 25741868 |
| p.A298T | 1 | 2015 | PMID 25741868 |
| p.A2V | 1 | 2015 | PMID 25741868 |
Showing 5 of 245 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.Q413* | HCMI-CMDC | Ductal and Lobular Neoplasms; Complex Mixed and Stromal Neoplasms; Blood Vessel Tumors; Fibromatous Neoplasms; Epithelial Neoplasms, NOS; Mature T- and NK-Cell Lymphomas; Transitional Cell Papillomas and Carcinomas; Complex Epithelial Neoplasms; Squamous Cell Neoplasms; Soft Tissue Tumors and Sarcomas, NOS; Lymphoid Leukemias; Cystic, Mucinous and Serous Neoplasms; Gliomas; Myomatous Neoplasms; Neuroepitheliomatous Neoplasms; Malignant Lymphomas, NOS or Diffuse; Acinar Cell Neoplasms; Osseous and Chondromatous Neoplasms; Synovial-like Neoplasms; Miscellaneous Bone Tumors; Nevi and Melanomas; Adenomas and Adenocarcinomas; Other and unspecified parts of tongue; Stomach; Bronchus and lung; Larynx; Uterus, NOS; Kidney; Esophagus; Other and ill-defined sites; Skin; Colon; Thyroid gland; Bladder; Adrenal gland; Eye and adnexa; Gallbladder; Connective, subcutaneous and other soft tissues; Rectosigmoid junction; Breast; Pancreas; Small intestine; Corpus uteri; Other and unspecified parts of mouth; Liver and intrahepatic bile ducts; Nasal cavity and middle ear; Hematopoietic and reticuloendothelial systems; Brain; Other and unspecified parts of biliary tract; Bones, joints and articular cartilage of other and unspecified sites; Rectum; Unknown; Lymph nodes; Ovary | 1 | 606 | 0.17% | 0.03% to 0.93% |
Literature-extracted relations (64)
Shown in this order: chemicals, then diseases.
| Related entity | Kind | Source relation label | Paper | Year |
|---|---|---|---|---|
| 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 |
| 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 |
| EVEROLIMUS | Chemical | associate |
Genome sequencing identifies a basis for everolimus sensitivity. | 2012 |
| Sleep Disorders, Circadian Rhythm | Disease | associate |
A randomized trial of adapted versus standard versions the transdiagnostic intervention for sleep and circadian dysfunction (TSC) implemented via facilitation and delivered by community mental health providers using train-the-trainer. | 2025 |
| Drug Resistant Epilepsy | Disease | stimulate |
Resective Surgery for Drug-Resistant Epilepsy in Patients With Tuberous Sclerosis Complex: A Prospective Nationwide Multicenter Cohort Study. | 2025 |
Showing 5 of 64 relation assertions.
Organizations publishing (301)
Shown in this order: most papers first.
| Organization | Type | Papers | Years |
|---|---|---|---|
| Memorial Sloan Kettering Cancer Center | Hospital | 18 | 2005 to 2023 |
| Harvard Medical School | Academic | 14 | 2004 to 2022 |
| Mass General Brigham | Hospital | 14 | 2005 to 2022 |
| Government of the United States of America | Government | 12 | 2014 to 2024 |
| University of London | Academic | 10 | 2010 to 2022 |
Showing 5 of 301 organizations.
Where TSC1 appears
- biological_process
- cancer or benign tumor
- cardiovascular disease
- disorder of visual system
- endocrine system disease
- gastrointestinal disease
- genetic, familial or congenital 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
424 diseases touched.
Not on this page
Checked, with nothing recorded for this biomarker: fda companion diagnostic assertions and fda biomarker qualification projects.