Overview

Location [1]
5p15.33
Protein [2]
Telomerase reverse transcriptase
Synonyms [1]
TP2, hTRT, TCS1, DKCA2, CMM9, EST2, PFBMFT1, TRT, hEST2, DKCB4

Telomerase reverse transcriptase (TERT) is a gene that encodes an enzymatic protein that possesses reverse transcriptase activity. The protein also functions as an RNA component that serves as a template for the telomere repeat TTAGGG. Missense mutations, nonsense mutations, silent mutations, and frameshift deletions and insertions are observed in cancers such as cancers of the central nervous system, liver cancer, and cancers of the urinary tract.

TERT is altered in 3.47% of all cancers with lung adenocarcinoma, colon adenocarcinoma, cutaneous melanoma, breast invasive ductal carcinoma, and endometrial endometrioid adenocarcinoma having the greatest prevalence of alterations [3].

TERT GENIE Cases - Top Diseases

The most common alterations in TERT are TERT Mutation (1.92%), TERT Amplification (1.57%), TERT Loss (0.09%), TERT E280K (0.03%), and TERT E113fs (0.02%) [3].

TERT GENIE Cases - Top Alterations

Significance of TERT in Diseases

Medulloblastoma +

Medulloblastoma, Non-WNT/Non-SHH +

Glioblastoma +

Large Cell/Anaplastic Medulloblastoma +

Glioblastoma, IDH-Wildtype +

Central Nervous System Embryonal Neoplasm +

Central Nervous System Ganglioneuroblastoma +

Central Nervous System Neuroblastoma +

Desmoplastic/Nodular Medulloblastoma +

Medulloblastoma With Extensive Nodularity +

Medulloblastoma, SHH-Activated +

Medulloblastoma, WNT-Activated +

Medulloepithelioma +

Anaplastic Pleomorphic Xanthoastrocytoma +

Atypical Teratoid/Rhabdoid Tumor +

Anaplastic Oligodendroglioma +

Malignant Glioma +

Diffuse Astrocytoma +

Diffuse Glioma +

Gliosarcoma +

Anaplastic Ependymoma +

Anaplastic Astrocytoma +

Astrocytoma +

High-Grade Glioma, NOS +

Anaplastic Astrocytoma, IDH-Mutant +

Anaplastic Oligodendroglioma, IDH-Mutant And 1p/19q-Codeleted +

Diffuse Midline Glioma, H3 K27M-Mutant +

Embryonal Tumor With Multilayered Rosettes, C19MC-Altered +

Embryonal Tumor With Multilayered Rosettes, Not Otherwise Specified +

Ependymoma +

Ependymoma, RELA Fusion-Positive +

Intracranial Primitive Neuroectodermal Neoplasm +

Pineoblastoma +

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.