• What is TSC1?
  • TSC1 in Bladder Cancer
  • Clinical Trials


Tuberous sclerosis 1 (TSC1) 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; Sjodahl et al. 2011).

TSC1 interacts with mTOR pathway proteins, and a bladder cancer patient’s TSC1-mutated tumor has been observed to be sensitive to the mTOR inhibitor everolimus (Iyer et al. 2012).

Related Pathways

Contributors: David Solit, M.D.

Suggested Citation: Solit, D. 2015. TSC1. My Cancer Genome https://www.padiracinnovation.org/content/disease/bladder-cancer/tsc1/?tab=0 (Updated December 7).

Last Updated: December 7, 2015

TSC1 in Bladder Cancer

Mutations in TSC1 are observed in 7–12% of bladder cancers. The frequency of mutations is the same for low grade, non-invasive, and high grade, invasive, tumors (COSMIC; Iyer et al. 2012; Sjodahl et al. 2011​).

mTOR inhibitors have been identified as potential therapies for TSC1-mutated bladder cancers (Iyer et al. 2012). Further study is needed to explore this and other strategies for use of targeted therapeutics in bladder cancer.

Contributors: David Solit, M.D.

Suggested Citation: Solit, D. 2013. TSC1 in Bladder Cancer. My Cancer Genome https://www.padiracinnovation.org/content/disease/bladder-cancer/tsc1/ (Updated February 12).

Last Updated: February 12, 2013

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