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 2.96% of all cancers with lung adenocarcinoma, colon adenocarcinoma, breast invasive ductal carcinoma, endometrial endometrioid adenocarcinoma, and conventional glioblastoma multiforme 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-Small Cell Lung Carcinoma +

Colorectal Carcinoma +

Cancer +

Non-Hodgkin Lymphoma +

Melanoma +

Squamous Cell Lung Carcinoma +

Ovarian Carcinoma +

Gastric Adenocarcinoma +

Pancreatic Carcinoma +

Endometrial Carcinoma +

Hepatocellular Carcinoma +

Malignant Uterine Neoplasm +

Gallbladder Carcinoma +

Transitional Cell Carcinoma +

Bladder Carcinoma +

Glioblastoma +

Bladder Urothelial Carcinoma +

Lung Carcinoma +

B-Cell Non-Hodgkin Lymphoma +

Renal Cell Carcinoma +

Cervical Carcinoma +

Thyroid Gland Carcinoma +

Prostate Carcinoma +

Bile Duct Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Bronchogenic Carcinoma +

Esophageal Squamous Cell Carcinoma +

Fallopian Tube 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 +

Peritoneal Mesothelioma +

Primary Peritoneal Carcinoma +

Renal Pelvis Urothelial 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.