Overview

Location [1]
9q34.13
Pathway
PI3K/AKT1/MTOR
Protein [2]
Hamartin
Synonyms [1]
LAM, TSC

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 1.80% of all cancers with bladder urothelial carcinoma, lung adenocarcinoma, colon 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 (2.09%), TSC1 Loss (0.06%), TSC1 R420Gfs*20 (0.03%), TSC1 N891Kfs*13 (0.03%), and TSC1 R1097C (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 +

Renal Cell Carcinoma +

Squamous Cell Lung Carcinoma +

Hepatocellular Carcinoma +

Gastric Adenocarcinoma +

Ovarian Carcinoma +

Pancreatic Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Multiple Myeloma +

Bladder Urothelial Carcinoma +

Transitional Cell Carcinoma +

Urothelial Carcinoma +

Unclassified Renal Cell Carcinoma +

Endometrial Carcinoma +

Malignant Uterine Neoplasm +

Non-Clear Cell Renal Cell Carcinoma +

Cervical Carcinoma +

Bile Duct Carcinoma +

Small Cell Lung Carcinoma +

Glioblastoma +

Liposarcoma +

Lung Carcinoma +

Myeloid Neoplasm +

Lymphoma +

Prostate Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Aggressive Systemic Mastocytosis +

B-Cell Non-Hodgkin Lymphoma +

Bronchogenic Carcinoma +

Chondrosarcoma +

Chromophobe Renal Cell Carcinoma +

Classical Hodgkin Lymphoma +

Desmoid-Type Fibromatosis +

Esophageal Carcinoma +

Esophageal Squamous Cell Carcinoma +

Ewing Sarcoma +

Gallbladder Carcinoma +

Head And Neck Carcinoma +

Hematologic And Lymphocytic Disorder +

Hematopoietic And Lymphoid Malignancy +

Hematopoietic And Lymphoid System Neoplasm +

Histiocytic And Dendritic Cell Neoplasm +

Infiltrating Renal Pelvis And Ureter Urothelial Carcinoma +

Mast Cell Leukemia +

Myelodysplastic Syndromes +

Osteosarcoma +

Pecoma +

Papillary Renal Cell Carcinoma +

Peritoneal Mesothelioma +

Renal Pelvis Urothelial Carcinoma +

Sarcomatoid Renal Cell Carcinoma +

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

Thyroid Gland Carcinoma +

Undifferentiated Pleomorphic Sarcoma +

Ureter Urothelial Carcinoma +

Urethral Urothelial Carcinoma +

References

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 6. 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.