Overview

Location [1]
16p13.3
Pathway
PI3K/AKT1/MTOR
Protein [2]
Tuberin
Synonyms [1]
TSC4, LAM, PPP1R160

Tuberous sclerosis 2 (TSC2) is a gene that encodes a protein that acts as a tumor suppressor as well as an activator of GTPases. Missense mutations, nonsense mutations, silent mutations, frameshift deletions and insertions, and in-frame deletions are observed in cancers such as parathyroid cancer, skin cancer, and stomach cancer.

TSC2 is altered in 3.55% of all cancers with non-small cell lung carcinoma, colorectal adenocarcinoma, breast carcinoma, uterine corpus neoplasm, and malignant glioma having the greatest prevalence of alterations [3].

TSC2 GENIE Cases - Top Diseases

The most common alterations in TSC2 are TSC2 Mutation (3.34%), TSC2 Mutation (somatic) (3.34%), TSC2 Deletion (0.12%), TSC2 Amplification (0.10%), and TSC2 Loss (0.08%) [3].

TSC2 GENIE Cases - Top Alterations

Significance of TSC2 in Diseases

Malignant Solid Tumor +

Breast Carcinoma +

Non-Hodgkin Lymphoma +

Non-Small Cell Lung Carcinoma +

Cancer +

Multiple Myeloma +

Endometrial Carcinoma +

Squamous Cell Lung Carcinoma +

Lymphoma +

Hepatocellular Carcinoma +

B-Cell Non-Hodgkin Lymphoma +

Melanoma +

Histiocytic And Dendritic Cell Neoplasm +

Glioblastoma +

Urothelial Carcinoma +

Colorectal Carcinoma +

Renal Cell Carcinoma +

Gastric Adenocarcinoma +

Ovarian Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Thyroid Gland Carcinoma +

Prostate Carcinoma +

Pancreatic Carcinoma +

Peritoneal Mesothelioma +

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.