Overview

Location [1]
1p36.22
Pathway
PI3K/AKT1/MTOR
Protein [2]
Serine/threonine-protein kinase mTOR
Synonyms [1]
SKS, FRAP1, RAPT1, FRAP, FRAP2, RAFT1

Mechanistic target of rapamycin (MTOR) is a gene that encodes a family of phosphatidylinositol kinase-related kinases. Activating MTOR mutations increase the kinase activity of MTOR, leading to hyperactivation of downstream pro-survival signaling pathways. Missense mutations, nonsense mutations, silent mutations, and frameshift deletions are also observed. MTOR mutations are observed in cancers such as breast cancer, lung cancer, ovarian cancer, and skin cancer. 

MTOR is altered in 3.52% of all cancers with non-small cell lung carcinoma, colorectal adenocarcinoma, uterine corpus neoplasm, breast carcinoma, and melanoma having the greatest prevalence of alterations [3].

MTOR GENIE Cases - Top Diseases

The most common alterations in MTOR are MTOR Mutation (3.49%), MTOR Mutation (somatic) (3.49%), MTOR Loss (0.07%), MTOR E1799K (0.05%), and MTOR Amplification (0.04%) [3].

MTOR GENIE Cases - Top Alterations

Significance of MTOR in Diseases

Malignant Solid Tumor +

Breast Carcinoma +

Non-Hodgkin Lymphoma +

Endometrial Carcinoma +

Cancer +

Multiple Myeloma +

Non-Small Cell Lung Carcinoma +

Squamous Cell Lung Carcinoma +

Lymphoma +

Renal Cell Carcinoma +

Melanoma +

B-Cell Non-Hodgkin Lymphoma +

Colorectal Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Gastric Adenocarcinoma +

Glioblastoma +

Malignant Glioma +

Hepatocellular Carcinoma +

Thyroid Gland Carcinoma +

Peritoneal Mesothelioma +

Prostate Carcinoma +

Pancreatic Carcinoma +

Histiocytic And Dendritic Cell Neoplasm +

Ovarian 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.