Overview

Gene Location [1]
9q34.13
Pathway
PI3K/AKT1/MTOR
Gene
TSC1

TSC1 Mutation is present in 2.01% of AACR GENIE cases, with non-small cell lung carcinoma, colorectal adenocarcinoma, bladder carcinoma, uterine corpus neoplasm, and breast carcinoma having the greatest prevalence [4].

Top Disease Cases with TSC1 Mutation

Significance of TSC1 Mutation in Diseases

Malignant Solid Tumor +

Breast Carcinoma +

Non-Hodgkin Lymphoma +

Cancer +

Non-Small Cell Lung Carcinoma +

Multiple Myeloma +

Endometrial Carcinoma +

Squamous Cell Lung Carcinoma +

Lymphoma +

Urothelial Carcinoma +

Melanoma +

Renal Cell Carcinoma +

Histiocytic And Dendritic Cell Neoplasm +

Hepatocellular Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Glioblastoma +

Gastric Adenocarcinoma +

Peritoneal Mesothelioma +

Thyroid Gland Carcinoma +

Colorectal Carcinoma +

Prostate Carcinoma +

Pancreatic Carcinoma +

B-Cell Non-Hodgkin Lymphoma +

Ovarian Carcinoma +

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. 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 4. 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.