Overview

Gene Location [1]
16p13.3
Pathway
PI3K/AKT1/MTOR
Variant Type
Loss
Gene
TSC2

TSC2 Loss is present in 0.10% of AACR GENIE cases, with high grade ovarian serous adenocarcinoma, breast invasive ductal carcinoma, pancreatic neuroendocrine neoplasm, bladder urothelial carcinoma, and hepatocellular carcinoma having the greatest prevalence [4].

Top Disease Cases with TSC2 Loss

Significance of TSC2 Loss in Diseases

Malignant Solid Tumor +

Non-Hodgkin Lymphoma +

Cancer +

Breast Carcinoma +

Non-Small Cell Lung Carcinoma +

Multiple Myeloma +

Histiocytic And Dendritic Cell Neoplasm +

Ovarian Carcinoma +

Bladder Urothelial Carcinoma +

Bladder Carcinoma +

Transitional Cell Carcinoma +

B-Cell Non-Hodgkin Lymphoma +

Lymphoma +

Soft Tissue Sarcoma +

Head And Neck Carcinoma +

Malignant Uterine Neoplasm +

Melanoma +

Lung Carcinoma +

Colorectal Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Bile Duct Carcinoma +

Bronchogenic Carcinoma +

Cervical Carcinoma +

Esophageal Squamous Cell Carcinoma +

Gallbladder Carcinoma +

Gastric Adenocarcinoma +

Infiltrating Renal Pelvis And Ureter Urothelial Carcinoma +

Pancreatic 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. Liu X, Wu C, Li C, and Boerwinkle E. dbNSFP v3.0: A one-stop database of functional predictions and annotations for human nonsynonymous and splice site SNVs. Human Mutation. 2015;37:235-241.

Liu X, Jian X, and Boerwinkle E. dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions. Human Mutation. 2011;32:894-899.

4. 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.

5. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.