Biomarkers /
TSC1
Overview
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 2013; PMID: 21533174). Mutations in TSC1 are observed in bladder cancer (COSMIC; PMID: 22923433; PMID: 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].
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].
Biomarker-Directed Therapies
Clinical Trials
Significance of TSC1 in Diseases
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 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.