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 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-Small Cell Lung Carcinoma +

Colorectal Carcinoma +

Cancer +

Non-Hodgkin Lymphoma +

Melanoma +

Squamous Cell Lung Carcinoma +

Gastric Adenocarcinoma +

Ovarian Carcinoma +

Pancreatic Carcinoma +

Bladder Urothelial Carcinoma +

Transitional Cell Carcinoma +

Unclassified Renal Cell Carcinoma +

Endometrial Carcinoma +

Renal Cell Carcinoma +

Malignant Uterine Neoplasm +

Hepatocellular Carcinoma +

Non-Clear Cell Renal Cell Carcinoma +

Cervical Carcinoma +

Bile Duct Carcinoma +

Glioblastoma +

Lung Carcinoma +

Prostate Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

B-Cell Non-Hodgkin Lymphoma +

Bronchogenic Carcinoma +

Chromophobe Renal Cell Carcinoma +

Esophageal Squamous Cell Carcinoma +

Fallopian Tube Carcinoma +

Gallbladder Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Hematopoietic And Lymphoid Malignancy +

Histiocytic And Dendritic Cell Neoplasm +

Infiltrating Renal Pelvis And Ureter Urothelial Carcinoma +

Multiple Myeloma +

Papillary Renal Cell Carcinoma +

Peritoneal Mesothelioma +

Primary Peritoneal Carcinoma +

Renal Pelvis Urothelial Carcinoma +

Sarcomatoid Renal Cell Carcinoma +

Thyroid Gland Carcinoma +

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.