Overview

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

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 2.18% of all cancers with non-small cell lung carcinoma, colorectal adenocarcinoma, bladder carcinoma, breast carcinoma, and uterine corpus neoplasm having the greatest prevalence of alterations [3].

TSC1 GENIE Cases - Top Diseases

The most common alterations in TSC1 are TSC1 Mutation (2.09%), TSC1 Mutation (somatic) (2.09%), TSC1 Loss (0.06%), TSC1 R420Gfs*20 (0.03%), and TSC1 N891Kfs*13 (0.03%) [3].

TSC1 GENIE Cases - Top Alterations

Biomarker-Directed Therapies

Significance of TSC1 in Diseases

Bladder Carcinoma +

Malignant Solid Tumor +

Breast Carcinoma +

Non-Hodgkin Lymphoma +

Cancer +

Non-Small Cell Lung Carcinoma +

Multiple Myeloma +

Endometrial Carcinoma +

Squamous Cell Lung Carcinoma +

Lymphoma +

Urothelial Carcinoma +

Melanoma +

Renal Cell Carcinoma +

Histiocytic And Dendritic Cell Neoplasm +

Hepatocellular Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Glioblastoma +

Gastric Adenocarcinoma +

Peritoneal Mesothelioma +

Thyroid Gland Carcinoma +

Colorectal Carcinoma +

Prostate Carcinoma +

Pancreatic Carcinoma +

B-Cell Non-Hodgkin Lymphoma +

Ovarian Carcinoma +

Transitional Cell Carcinoma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20170629. 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 4. 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.