Location [1]
Protein [2]
Synonyms [1]

TSC1 (tuberous sclerosis 1) is a gene that encodes for a protein, hamartin, that interacts with a protein encoded by the TSC2 gene, tuberin (Genetics Home Reference 2013). TSC1 acts as a tumor suppressor, through regulation of the mTOR pathway, which is involved in cell proliferation (Genetics Home Reference 2013PMID: 21533174). Mutations in TSC1 are observed in bladder cancer (COSMIC; PMID: 22923433PMID: 21533174).

TSC1 is altered in 2.15% of all cancers with bladder urothelial carcinoma, colon adenocarcinoma, lung adenocarcinoma, endometrial endometrioid adenocarcinoma, and breast invasive ductal carcinoma having the greatest prevalence of alterations [3].

TSC1 GENIE Cases - Top Diseases

The most common alterations in TSC1 are TSC1 Mutation (1.69%), TSC1 Loss (0.07%), TSC1 R1097C (0.03%), TSC1 Amplification (0.03%), and TSC1 R228Q (0.02%) [3].

TSC1 GENIE Cases - Top Alterations

Biomarker-Directed Therapies

Significance of TSC1 in Diseases

Bladder Carcinoma +

Malignant Solid Tumor +

Breast Carcinoma +

Non-Small Cell Lung Carcinoma +

Colorectal Carcinoma +

Melanoma +

Cancer +

Non-Hodgkin Lymphoma +

Squamous Cell Lung Carcinoma +

Hepatocellular Carcinoma +

Renal Cell Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Gastric Adenocarcinoma +

Multiple Myeloma +

Ovarian Carcinoma +

Pancreatic Carcinoma +

Infiltrating Renal Pelvis And Ureter Urothelial Carcinoma +

Urethral Urothelial Carcinoma +

Transitional Cell Carcinoma +

Urothelial Carcinoma +

Bladder Urothelial Carcinoma +

Pecoma +

Endometrial Carcinoma +

Sarcomatoid Renal Cell Carcinoma +

Malignant Uterine Neoplasm +

Unclassified Renal Cell Carcinoma +

Desmoid-Type Fibromatosis +

Bile Duct Carcinoma +

Osteosarcoma +

Undifferentiated Pleomorphic Sarcoma +

Esophageal Squamous Cell Carcinoma +

Cervical Carcinoma +

Lung Carcinoma +

Non-Clear Cell Renal Cell Carcinoma +

Head And Neck Carcinoma +

Small Cell Lung Carcinoma +

Chromophobe Renal Cell Carcinoma +

Ewing Sarcoma +

Peritoneal Mesothelioma +

Liposarcoma +

Soft Tissue Sarcoma +

Lymphoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Histiocytic And Dendritic Cell Neoplasm +

B-Cell Non-Hodgkin Lymphoma +

Gallbladder Carcinoma +

Prostate Carcinoma +

Hematologic And Lymphocytic Disorder +

Papillary Renal Cell Carcinoma +

Hematopoietic And Lymphoid Malignancy +

Hematopoietic And Lymphoid System Neoplasm +

Myelodysplastic Syndromes +

Myeloid Neoplasm +

Thyroid Gland Carcinoma +

Aggressive Systemic Mastocytosis +

Bronchogenic Carcinoma +

Chondrosarcoma +

Classical Hodgkin Lymphoma +

Mast Cell Leukemia +

Renal Pelvis Urothelial Carcinoma +

Systemic Mastocytosis With An Associated Hematological Neoplasm (SM-AHN) +

Ureter Urothelial Carcinoma +


1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.