Gene

TERT

telomerase reverse transcriptase

Explore in graph →CI-GENE-00034908HGNC:11730 ENSG00000164362 NCBI 7015 CIViC Cancer geneApproved

Curated evidence

Clinical evidence (18)

CIViC items involving this gene, grouped by molecular profile and therapy, with native levels and directions. 50 items per page.

civicCuratedShowing 1–18 of 18 evidence items · levels, directions and significance as curated at the source; each row links to its CIViC record.

Therapy	Cancer	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
NTRK2 Fusion + TERT c.-124C.TTERT NTRK21
Larotrectinib	Thyroid Gland Papillary CarcinomaALIAS	Predictive	C

Cohorts

Alteration frequency by cohort (155)

Frequency = cases affected / cases profiled within one cohort. Cohorts are never pooled.

cbioportalObserved155 cohort rows (showing 5, sorted by frequency) · frequency = affected / profiled, as published by each cohort; cohorts are not pooled. Hover a row badge for its release.

Cohort	Mapped cancer	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Rank in cohort	Source
Myelodysplastic Syndromes (MDS IWG, IPSSM, NEJM Evidence 2022) mds_iwg_2022	Myelodysplastic Syndrome	Ssm	12	3,323	0.4%

Literature

Linked publications (9)

25 per page, newest first.

pubmedPublishedShowing 1–9 of 9 publications · bibliographic data as recorded by PubMed; abstracts are not reproduced.

BRAF V600E and TERT promoter mutations cooperatively identify the most aggressive papillary thyroid cancer with highest recurrence.
· J Clin Oncol · 2014 · PMID 25024077 · validated civic_curation pubmed
TERT promoter mutations in primary and secondary glioblastomas.
· Acta Neuropathol · 2013 · PMID 23955565 · validated civic_curation pubmed
Pediatric low-grade gliomas can be molecularly stratified for risk.
· Acta Neuropathol · 2018 · PMID 29948154 · validated civic_curation pubmed
TERT gene amplification is associated with poor outcome in acral lentiginous melanoma.
· J Am Acad Dermatol · 2014 · PMID 25219713 · validated civic_curation pubmed

TERT Amplification1
(prognostic)	Acral Lentiginous Melanoma	Prognostic	B	Supports Poor Outcome	3	accepted	EID514 In patients with acral lentiginous melanoma, those with amplification of TERT had shorter overall survival. PMID 25219713 · Diaz et al., 2014 · Open in CIViC	civic

TERT Amplification1

(prognostic)

Acral Lentiginous Melanoma

Prognostic

Supports Poor Outcome

accepted

EID514

In patients with acral lentiginous melanoma, those with amplification of TERT had shorter overall survival.

PMID 25219713 · Diaz et al., 2014 · Open in CIViC

civic

TERT C228T4
(prognostic)	Thyroid Gland Papillary CarcinomaALIAS	Prognostic	B	Supports Poor Outcome	5	accepted	EID655 In patients with papillary thyroid cancer harboring both BRAF V600E and the TERT promotor mutation C228T, recurrence-free survival is worse than in patients harboring one of these mutations or no muta… (full text at CIViC) PMID 25024077 · Xing et al., 2014 · Open in CIViC	civic
(diagnostic)	Malignant Thyroid Gland Neoplasm	Diagnostic	B	Supports Positive	3	accepted	EID1646 In 308 thyroid fine-needle aspiration biopsies, 0 of the 179 benign tumors displayed either the C228T or the C250T TERT promoter mutation; however, 9 of the 129 differentiated thyroid cancers had eith… (full text at CIViC) PMID 25121551 · Liu et al., 2014 · Open in CIViC	civic
(prognostic)	GlioblastomaCURATED_BROADER	Prognostic	B	Supports Poor Outcome	2	submitted	EID6934 Evaluation of 25 Korean patients with primary glioblastomas, individuals with TERT promoter mutations (N=16) had worse overall survival (median 81.7 weeks [95% confidence interval (CI), 61.71–101.85])… (full text at CIViC) PMID 29344264 · Jeong et al., 2017 · Open in CIViC	civic
〃	GlioblastomaCURATED_BROADER	Prognostic	D	Supports Poor Outcome	2	submitted	EID6935 Surgical samples from 25 Korean patients with primary glioblastomas were disassociated for cell culture and evaluated for TERT promoter mutations (N=16 mutant, N=9 wildtype). All patients harbored the… (full text at CIViC) PMID 29344264 · Jeong et al., 2017 · Open in CIViC	civic

TERT C228T4

(prognostic)

Thyroid Gland Papillary CarcinomaALIAS

Prognostic

Supports Poor Outcome

accepted

EID655

In patients with papillary thyroid cancer harboring both BRAF V600E and the TERT promotor mutation C228T, recurrence-free survival is worse than in patients harboring one of these mutations or no muta… (full text at CIViC)

PMID 25024077 · Xing et al., 2014 · Open in CIViC

civic

(diagnostic)

Malignant Thyroid Gland Neoplasm

Diagnostic

Supports Positive

accepted

EID1646

In 308 thyroid fine-needle aspiration biopsies, 0 of the 179 benign tumors displayed either the C228T or the C250T TERT promoter mutation; however, 9 of the 129 differentiated thyroid cancers had eith… (full text at CIViC)

PMID 25121551 · Liu et al., 2014 · Open in CIViC

civic

(prognostic)

GlioblastomaCURATED_BROADER

Prognostic

Supports Poor Outcome

submitted

EID6934

Evaluation of 25 Korean patients with primary glioblastomas, individuals with TERT promoter mutations (N=16) had worse overall survival (median 81.7 weeks [95% confidence interval (CI), 61.71–101.85])… (full text at CIViC)

PMID 29344264 · Jeong et al., 2017 · Open in CIViC

civic

〃

GlioblastomaCURATED_BROADER

Prognostic

Supports Poor Outcome

submitted

EID6935

Surgical samples from 25 Korean patients with primary glioblastomas were disassociated for cell culture and evaluated for TERT promoter mutations (N=16 mutant, N=9 wildtype). All patients harbored the… (full text at CIViC)

PMID 29344264 · Jeong et al., 2017 · Open in CIViC

civic

TERT C250T1
(oncogenic)	GlioblastomaCURATED_BROADER	Oncogenic	B	Supports Oncogenicity	4	submitted	EID10331 TERT promoter mutations are activating and commonly found at two hotspots within the TERT promoter region which occur 124 and 146 base pairs (hg19) upstream of the translation start site. These hotspo… (full text at CIViC) PMID 23955565 · Nonoguchi et al., 2013 · Open in CIViC	civic

TERT C250T1

(oncogenic)

GlioblastomaCURATED_BROADER

Oncogenic

Supports Oncogenicity

submitted

EID10331

TERT promoter mutations are activating and commonly found at two hotspots within the TERT promoter region which occur 124 and 146 base pairs (hg19) upstream of the translation start site. These hotspo… (full text at CIViC)

PMID 23955565 · Nonoguchi et al., 2013 · Open in CIViC

civic

TERT Overexpression1
UO126	Clear Cell Renal Cell Carcinoma	Predictive	D	Supports Sensitivity Response	3	submitted	EID2900 A total of 96 histopathologically confirmed RCC cases and corresponding normal tissues were subjected to hTERT gene expression using real-time PCR. Two RCC cell lines viz. ACHN and A498 were treated w… (full text at CIViC) PMID 28215740 · Pal et al., 2017 · Open in CIViC	civic

TERT Overexpression1

UO126

Clear Cell Renal Cell Carcinoma

Predictive

Supports Sensitivity Response

submitted

EID2900

A total of 96 histopathologically confirmed RCC cases and corresponding normal tissues were subjected to hTERT gene expression using real-time PCR. Two RCC cell lines viz. ACHN and A498 were treated w… (full text at CIViC)

PMID 28215740 · Pal et al., 2017 · Open in CIViC

civic

TERT Promoter Mutation9
(prognostic)	GlioblastomaCURATED_BROADER	Prognostic	B	Supports Poor Outcome	4	accepted	EID516 In 187 patients with glioblastoma, those with TERT promoter mutations had worse cummulative survival than wild-type patients. The most common mutation was C228T (73% of mutants) followed by C250T (27%… (full text at CIViC) PMID 23955565 · Nonoguchi et al., 2013 · Open in CIViC	civic
〃	Bladder Urothelial Carcinoma	Prognostic	B	Supports Better Outcome	4	submitted	EID7968 Patients with mutations at TERT promoter region of -124 and -146 of ATG showed poor survival in the absence but not in the presence of the variant allele of a common polymorphism with ID of rs2853669 … (full text at CIViC) PMID 24101484 · Rachakonda et al., 2013 · Open in CIViC	civic
〃	Cutaneous MelanomaALIAS	Prognostic	B	Supports Poor Outcome	3	accepted	EID515 In patients with nonacral cutaneous melanoma, those with mutations in the TERT promoter had shorter overall survival than wild-type patients. PMID 25217772 · Griewank et al., 2014 · Open in CIViC	civic
(diagnostic)	Malignant Thyroid Gland Neoplasm	Diagnostic	B	Supports Positive	3	accepted	EID657 TERT promoter mutations are prevalent in aggressive sub-types of thyroid cancers. This work showed that TERT promoter mutations were significantly more prevalent in the tall cell papillary thyroid car… (full text at CIViC) PMID 23766237 · Liu et al., 2013 · Open in CIViC	civic
(prognostic)	Malignant Thyroid Gland Neoplasm	Prognostic	B	Supports Poor Outcome	3	accepted	EID658 TERT promoter mutation C228T is significantly associated with BRAF V600E mutation, a marker of more aggressive tumors, in papillary thyroid cancer (PTC). Conversely, the BRAF V600E mutation is signifi… (full text at CIViC) PMID 23766237 · Liu et al., 2013 · Open in CIViC	civic
(diagnostic)	Brain GliomaUNRESOLVED	Diagnostic	B	Supports Positive	3	accepted	EID976 In this meta-analysis of 16 Trials, TERT mutations were more common in glioblastomas (69%), oligodendrogliomas (72%) in comparison to astrocytomas (24%) and oligoastrocytomas (38%). PMID 26765760 · Yuan et al., 2016 · Open in CIViC	civic
(prognostic)	GlioblastomaCURATED_BROADER	Prognostic	B	Supports Poor Outcome	3	accepted	EID6933 In 50 patients with primary glioblastomas, patients without TERT promoter mutations (N=13, median 27 mo) survived longer than those harboring mutations (N=37, 14 mo; P = 0.01 by the log rank test; HR … (full text at CIViC) PMID 23530248 · Killela et al., 2013 · Open in CIViC	civic
〃	Childhood Low Grade Glioma	Prognostic	C	Supports Poor Outcome	4	accepted	EID7188 The aim of this Chinese study was to identify prognostic biomarkers for pediatric low-grade gliomas (PLGG). Approximately 300 patients were included. Using Sanger sequencing, mutations at TERT promote… (full text at CIViC) PMID 29948154 · Yang et al., 2018 · Open in CIViC	civic
Iodine I-131	Thyroid Gland Carcinoma	Predictive	B	Supports Resistance	3	submitted	EID6961 Differentiated thyroid cancer patients with distant metastatic disease (N=66) were evaluated for radioiodine uptake and therapeutic response. Compared to patients with wildtype TERT, patients with TER… (full text at CIViC) PMID 27493271 · Yang et al., 2017 · Open in CIViC	civic

TERT Promoter Mutation9

(prognostic)

GlioblastomaCURATED_BROADER

Prognostic

Supports Poor Outcome

accepted

EID516

In 187 patients with glioblastoma, those with TERT promoter mutations had worse cummulative survival than wild-type patients. The most common mutation was C228T (73% of mutants) followed by C250T (27%… (full text at CIViC)

PMID 23955565 · Nonoguchi et al., 2013 · Open in CIViC

civic

〃

Bladder Urothelial Carcinoma

Prognostic

Supports Better Outcome

submitted

EID7968

Patients with mutations at TERT promoter region of -124 and -146 of ATG showed poor survival in the absence but not in the presence of the variant allele of a common polymorphism with ID of rs2853669 … (full text at CIViC)

PMID 24101484 · Rachakonda et al., 2013 · Open in CIViC

civic

〃

Cutaneous MelanomaALIAS

Prognostic

Supports Poor Outcome

accepted

EID515

In patients with nonacral cutaneous melanoma, those with mutations in the TERT promoter had shorter overall survival than wild-type patients.

PMID 25217772 · Griewank et al., 2014 · Open in CIViC

civic

(diagnostic)

Malignant Thyroid Gland Neoplasm

Diagnostic

Supports Positive

accepted

EID657

TERT promoter mutations are prevalent in aggressive sub-types of thyroid cancers. This work showed that TERT promoter mutations were significantly more prevalent in the tall cell papillary thyroid car… (full text at CIViC)

PMID 23766237 · Liu et al., 2013 · Open in CIViC

civic

(prognostic)

Malignant Thyroid Gland Neoplasm

Prognostic

Supports Poor Outcome

accepted

EID658

TERT promoter mutation C228T is significantly associated with BRAF V600E mutation, a marker of more aggressive tumors, in papillary thyroid cancer (PTC). Conversely, the BRAF V600E mutation is signifi… (full text at CIViC)

PMID 23766237 · Liu et al., 2013 · Open in CIViC

civic

(diagnostic)

Brain GliomaUNRESOLVED

Diagnostic

Supports Positive

accepted

EID976

In this meta-analysis of 16 Trials, TERT mutations were more common in glioblastomas (69%), oligodendrogliomas (72%) in comparison to astrocytomas (24%) and oligoastrocytomas (38%).

PMID 26765760 · Yuan et al., 2016 · Open in CIViC

civic

(prognostic)

GlioblastomaCURATED_BROADER

Prognostic

Supports Poor Outcome

accepted

EID6933

In 50 patients with primary glioblastomas, patients without TERT promoter mutations (N=13, median 27 mo) survived longer than those harboring mutations (N=37, 14 mo; P = 0.01 by the log rank test; HR … (full text at CIViC)

PMID 23530248 · Killela et al., 2013 · Open in CIViC

civic

〃

Childhood Low Grade Glioma

Prognostic

Supports Poor Outcome

accepted

EID7188

The aim of this Chinese study was to identify prognostic biomarkers for pediatric low-grade gliomas (PLGG). Approximately 300 patients were included. Using Sanger sequencing, mutations at TERT promote… (full text at CIViC)

PMID 29948154 · Yang et al., 2018 · Open in CIViC

civic

Iodine I-131

Thyroid Gland Carcinoma

Predictive

Supports Resistance

submitted

EID6961

Differentiated thyroid cancer patients with distant metastatic disease (N=66) were evaluated for radioiodine uptake and therapeutic response. Compared to patients with wildtype TERT, patients with TER… (full text at CIViC)

PMID 27493271 · Yang et al., 2017 · Open in CIViC

civic

TERT RS27361001
(predisposing)	Brain GliomaUNRESOLVED	Predisposing	B	Supports Predisposition	2	accepted	EID980 Meta-analysis of 10 studies (9,411 patients, 13,708 controls) showed that TERT polymorphisms (rs2736100) were associated with an increased glioma risk (RR=1.28, 95% CI 1.23-1.33). PMID 26765760 · Yuan et al., 2016 · Open in CIViC	civic

TERT RS27361001

(predisposing)

Brain GliomaUNRESOLVED

Predisposing

Supports Predisposition

accepted

EID980

Meta-analysis of 10 studies (9,411 patients, 13,708 controls) showed that TERT polymorphisms (rs2736100) were associated with an increased glioma risk (RR=1.28, 95% CI 1.23-1.33).

PMID 26765760 · Yuan et al., 2016 · Open in CIViC

civic