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Gene Symbol TSC1
Synonyms LAM | TSC
Gene Description TSC1, TSC complex subunit 1, is a tumor suppressor (PMID: 30562755) that forms a complex with Tsc2 and inhibits mTOR pathway signaling, thus regulating cell growth and metabolism (PMID: 27226234). Germline TSC1 inactivating mutations cause tuberous sclerosis complex and somatic TSC1 mutations have been identified in various cancers, including renal cell carcinoma, mucosal melanoma, and breast cancer (PMID: 27226234, PMID: 30327302, PMID: 29185092, PMID: 28027327).
ACMG Incidental List v3.0:
Yes, Tuberous sclerosis complex (PMID: 34012068)
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
7248 9 9q34.13 NM_000368 Tumor suppressor (PMID: 30606230)

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries
NCT04267120 Phase II Lenvatinib + Pembrolizumab Lenvatinib (LEN) in Combination With Pembrolizumab (KEYtruda) in Subjects With Locally Advanced or Metastatic Non-clear Cell Renal Cell Carcinoma (The LENKYN Trial) Active, not recruiting USA 0
NCT02646319 Phase I Nab-rapamycin Nanoparticle Albumin-Bound Rapamycin in Treating Patients With Advanced Cancer With mTOR Mutations Completed USA 0
NCT03155620 Phase II Tazemetostat Larotrectinib LY3023414 Vemurafenib Palbociclib Olaparib Ulixertinib Erdafitinib Selumetinib Ensartinib Targeted Therapy Directed by Genetic Testing in Treating Pediatric Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphomas, or Histiocytic Disorders (The Pediatric MATCH Screening Trial) Recruiting USA | CAN | AUS 1
NCT01971515 Phase I M2698 First-in-Human Dose Escalation Trial in Subjects With Advanced Malignancies Completed USA 0
NCT01470209 Phase I Buparlisib + Everolimus A Phase I Study of BKM120 and Everolimus in Advanced Solid Malignancies Completed USA 0
NCT03047213 Phase II Sapanisertib Sapanisertib in Treating Patients With Locally Advanced or Metastatic Bladder Cancer With TSC1 and/or TSC2 Mutations Active, not recruiting USA 0
NCT04774952 Phase I RMC-5552 Dose Escalation of RMC-5552 Monotherapy in Relapsed/Refractory Solid Tumors Active, not recruiting USA 0
NCT02352844 Phase II Everolimus Everolimus in Patients With Advanced Solid Malignancies With TSC1, TSC2, NF1, NF2, or STK11 Mutations Completed USA 0
NCT02693535 Phase II Cobimetinib + Vemurafenib Atezolizumab + Talazoparib Regorafenib Larotrectinib Trastuzumab + Tucatinib Ipilimumab + Nivolumab Palbociclib Afatinib Entrectinib Talazoparib Pembrolizumab Temsirolimus Pertuzumab + Trastuzumab Atezolizumab + Pertuzumab/trastuzumab/hyaluronidase-zzxf Crizotinib Abemaciclib Sunitinib Olaparib TAPUR: Testing the Use of Food and Drug Administration (FDA) Approved Drugs That Target a Specific Abnormality in a Tumor Gene in People With Advanced Stage Cancer (TAPUR) Recruiting USA 0
NCT03297606 Phase II Bosutinib Palbociclib Vismodegib Ipilimumab + Nivolumab Cobimetinib + Vemurafenib Temsirolimus Olaparib Erlotinib Crizotinib Sunitinib Afatinib Dasatinib Pertuzumab + Trastuzumab Axitinib Canadian Profiling and Targeted Agent Utilization Trial (CAPTUR) (CAPTUR) Recruiting CAN 0
NCT01396408 Phase II Temsirolimus Sunitinib A Phase II Study of Sunitinib or Temsirolimus in Patients With Advanced Rare Tumours Active, not recruiting CAN 0
NCT06308419 Phase I Gemcitabine + Nab-rapamycin A Phase I Trial of Combination Gemcitabine and Nab-Sirolimus in Advanced Leiomyosarcomas or Advanced Soft-Tissue Sarcomas With TSC2 or TSC1 Loss-of-function Mutations or Deletions Recruiting USA 0
NCT05103358 Phase II Nab-rapamycin Phase 2 Basket Trial of Nab-sirolimus in Patients With Malignant Solid Tumors With Pathogenic Alterations in TSC1/TSC2 Genes (PRECISION 1) Active, not recruiting USA 2
NCT02201212 Phase II Everolimus Everolimus for Cancer With TSC1 or TSC2 Mutation Completed USA 0
NCT05997056 Phase II Nab-rapamycin Trial of Nab-sirolimus in Patients With Well-differentiated Neuroendocrine Tumors (NETs) of the Gastrointestinal Tract, Lung, or Pancreas Who Have Not Received Prior Treatment With mTOR Inhibitors Recruiting USA 0
NCT03213678 Phase II LY3023414 Samotolisib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With TSC or PI3K/MTOR Mutations (A Pediatric MATCH Treatment Trial) Active, not recruiting USA 1
NCT05997017 Phase II Nab-rapamycin Trial of Nab-Sirolimus in Combination With Letrozole in Patients With Advanced or Recurrent Endometrioid Endometrial Cancer Recruiting USA 0