Overview

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

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 2.99% of all cancers with lung adenocarcinoma, colon adenocarcinoma, endometrial endometrioid adenocarcinoma, breast invasive ductal carcinoma, and bladder urothelial carcinoma 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 +

Colorectal Carcinoma +

Non-Small Cell Lung Carcinoma +

Cancer +

Non-Hodgkin Lymphoma +

Endometrial Carcinoma +

Melanoma +

Gastric Adenocarcinoma +

Squamous Cell Lung Carcinoma +

Ovarian Carcinoma +

Pancreatic Carcinoma +

Multiple Myeloma +

Renal Cell Carcinoma +

Malignant Uterine Neoplasm +

Bladder Carcinoma +

Lung Carcinoma +

B-Cell Non-Hodgkin Lymphoma +

Lymphoma +

Glioblastoma +

Malignant Glioma +

Hepatocellular Carcinoma +

Prostate Carcinoma +

Bile Duct Carcinoma +

Thyroid Gland Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Bronchogenic Carcinoma +

Cervical Carcinoma +

Esophageal Squamous Cell Carcinoma +

Fallopian Tube Carcinoma +

Gallbladder Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Hematopoietic And Lymphoid Malignancy +

Histiocytic And Dendritic Cell Neoplasm +

Peritoneal Mesothelioma +

Primary Peritoneal 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.