Overview

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

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 3.33% of all cancers with lung adenocarcinoma, colon adenocarcinoma, endometrial endometrioid adenocarcinoma, breast invasive ductal carcinoma, and cutaneous melanoma having the greatest prevalence of alterations [3].

MTOR GENIE Cases - Top Diseases

The most common alterations in MTOR are MTOR Mutation (3.12%), MTOR Amplification (0.08%), MTOR Loss (0.09%), MTOR E1799K (0.06%), and MTOR S2215F (0.05%) [3].

MTOR GENIE Cases - Top Alterations

Significance of MTOR in Diseases

Malignant Solid Tumor +

Breast Carcinoma +

Colorectal Carcinoma +

Non-Small Cell Lung Carcinoma +

Melanoma +

Cancer +

Non-Hodgkin Lymphoma +

Endometrial Carcinoma +

Renal Cell Carcinoma +

Gastric Adenocarcinoma +

Head And Neck Squamous Cell Carcinoma +

Squamous Cell Lung Carcinoma +

Hepatocellular Carcinoma +

Ovarian Carcinoma +

Multiple Myeloma +

Pancreatic Carcinoma +

Malignant Uterine Neoplasm +

Bladder Carcinoma +

Urothelial Carcinoma +

Small Cell Lung Carcinoma +

Lung Carcinoma +

Glioblastoma +

Malignant Glioma +

Head And Neck Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Esophageal Squamous Cell Carcinoma +

B-Cell Non-Hodgkin Lymphoma +

Peritoneal Mesothelioma +

Lymphoma +

Gallbladder Carcinoma +

Hematologic And Lymphocytic Disorder +

Prostate Carcinoma +

Cervical Carcinoma +

Soft Tissue Sarcoma +

Undifferentiated Pleomorphic Sarcoma +

Hematopoietic And Lymphoid Malignancy +

Hematopoietic And Lymphoid System Neoplasm +

Pecoma +

Osteosarcoma +

Histiocytic And Dendritic Cell Neoplasm +

Thyroid Gland Carcinoma +

Liposarcoma +

Bile Duct Carcinoma +

Chondrosarcoma +

Myeloid Neoplasm +

Ewing Sarcoma +

Myelodysplastic Syndromes +

Aggressive Systemic Mastocytosis +

Bronchogenic Carcinoma +

Classical Hodgkin Lymphoma +

Desmoid-Type Fibromatosis +

Mast Cell Leukemia +

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

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 8. 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.