Overview

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

TSC2 Mutation is present in 2.81% of AACR GENIE cases, with lung adenocarcinoma, colon adenocarcinoma, endometrial endometrioid adenocarcinoma, breast invasive ductal carcinoma, and conventional glioblastoma multiforme having the greatest prevalence [4].

Top Disease Cases with TSC2 Mutation

Significance of TSC2 Mutation in Diseases

Malignant Solid Tumor +

Breast Carcinoma +

Non-Small Cell Lung Carcinoma +

Colorectal Carcinoma +

Melanoma +

Cancer +

Non-Hodgkin Lymphoma +

Squamous Cell Lung Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Hepatocellular Carcinoma +

Ovarian Carcinoma +

Renal Cell Carcinoma +

Gastric Adenocarcinoma +

Pancreatic Carcinoma +

Multiple Myeloma +

Pecoma +

Endometrial Carcinoma +

Malignant Uterine Neoplasm +

Infiltrating Renal Pelvis And Ureter Urothelial Carcinoma +

Glioblastoma +

Gallbladder Carcinoma +

Transitional Cell Carcinoma +

Urothelial Carcinoma +

Bladder Carcinoma +

Small Cell Lung Carcinoma +

Cervical Carcinoma +

Bladder Urothelial Carcinoma +

Lung Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Undifferentiated Pleomorphic Sarcoma +

Head And Neck Carcinoma +

Osteosarcoma +

Urethral Urothelial Carcinoma +

B-Cell Non-Hodgkin Lymphoma +

Lymphoma +

Hematologic And Lymphocytic Disorder +

Soft Tissue Sarcoma +

Prostate Carcinoma +

Liposarcoma +

Bile Duct Carcinoma +

Hematopoietic And Lymphoid System Neoplasm +

Hematopoietic And Lymphoid Malignancy +

Histiocytic And Dendritic Cell Neoplasm +

Thyroid Gland Carcinoma +

Esophageal Squamous Cell Carcinoma +

Myelodysplastic Syndromes +

Myeloid Neoplasm +

Ewing Sarcoma +

Aggressive Systemic Mastocytosis +

Bronchogenic Carcinoma +

Chondrosarcoma +

Classical Hodgkin Lymphoma +

Desmoid-Type Fibromatosis +

Mast Cell Leukemia +

Peritoneal Mesothelioma +

Renal Pelvis Urothelial Carcinoma +

Systemic Mastocytosis With An Associated Hematological Neoplasm (SM-AHN) +

Ureter 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.