|
melanoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Two somatic mutations in the TERT promoter (C228T; C250T) have been identified as gain-of-function mutations that promote transcriptional activation of TERT in multiple cancers, such as melanoma and glioblastoma.
|
29449679 |
2018 |
|
melanoma
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
The mutation causes increased TERT and telomerase levels through creation of a binding motif for E-twenty six (ETS) transcription factors and the carriers develop melanoma with an early age of onset and rapid progression to metastasis.
|
30203894 |
2018 |
|
melanoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Telomerase reverse transcriptase promoter mutations and solar elastosis in cutaneous melanoma.
|
29570169 |
2018 |
|
melanoma
|
0.700 |
PosttranslationalModification
|
disease |
BEFREE |
<i>TERT</i> encodes the catalytic subunit of telomerase reverse transcriptase, which plays an important role in melanoma.
|
30046245 |
2018 |
|
Leukemia, Myelocytic, Acute
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The hypomorphic TERT A1062T variant is associated with increased treatment-related toxicity in acute myeloid leukemia.
|
28331964 |
2017 |
|
Leukemia, Myelocytic, Acute
|
0.700 |
Biomarker
|
disease |
BEFREE |
Simultaneous in vitro generation of CD8 and CD4 T cells specific to three universal tumor associated antigens of WT1, survivin and TERT and adoptive T cell transfer for the treatment of acute myeloid leukemia.
|
28477011 |
2017 |
|
melanoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our data provides additional evidence that UV-induced <i>TERT</i> promoter mutation frequencies vary depending on melanoma subtype, but preserves its prognostic value.
|
28123854 |
2017 |
|
melanoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
The recent technological advances have allowed the identification of new genes involved in melanoma susceptibility: breast cancer 1 (BRCA1), BRCA1-associated protein 1 (BAP1), and telomerase reverse transcriptase (TERT).Tests on these genes allow to identify a larger number of high-risk individuals with a potential of developing familial melanoma and primary multiple melanomas.
|
28121081 |
2017 |
|
melanoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
To elucidate this question, ETS1 and TERT immunohistochemistry were performed on a panel of benign (n=27) and dysplastic nevi (n=34), radial growth phase (n=29), vertical growth phase (n=25) and metastatic melanomas (n=27).
|
29262649 |
2017 |
|
melanoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Here, we show that frequently recurring promoter mutations in melanoma occur almost exclusively at cytosines flanked by a distinct sequence signature, TTCCG, with TERT as a notable exception.
|
28489852 |
2017 |
|
melanoma
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
A more exhaustive understanding of the different molecular mechanisms leading to increased TERT expression may guide development of prognostic assays to stratify AYA melanoma patients according to clinical risk.
|
28378855 |
2017 |
|
melanoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
Our study replicates 20 of 21 previously known melanoma-loci and confirms the association of the telomerase reverse transcriptase, TERT, with melanoma susceptibility at genome-wide significance.
|
28212542 |
2017 |
|
Leukemia, Myelocytic, Acute
|
0.700 |
Biomarker
|
disease |
BEFREE |
AE-hTERT cells represent a tractable model to study cooperating genetic lesions important for t(8;21) AML disease progression.
|
27509060 |
2016 |
|
Leukemia, Myelocytic, Acute
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia.
|
27069254 |
2016 |
|
Leukemia, Myelocytic, Acute
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We developed a quantitative pyrosequencing-based methylation assay covering the TERT proximal promoter and a partial exon 1 (TERTpro/Ex1) region and tested both cell lines and primary leukaemia cells derived from AML and AML with preceding myelodysplastic syndrome (AML/MDS) patients (n = 43).
|
27433923 |
2016 |
|
melanoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
Reactivating TERT and hence reconstituting telomerase is an important step in melanoma progression from nonmalignant nevi with BRAF mutations.
|
27911794 |
2016 |
|
melanoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the TERT promotor region are also found in mucosal melanomas.
|
27004972 |
2016 |
|
melanoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Two recurrent point mutations in the promoter region of telomerase reverse transcriptase (TERT)--the key subunit of telomerase--have recently been identified in melanoma as well as a small sample of bladder cancer cell lines.
|
27040924 |
2016 |
|
melanoma
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
We investigated the regulation of TERT expression in melanoma cell lines and our results show that promoter mutations render TERT expression dependent on MAPK activation due to oncogenic BRAF or NRAS mutations.
|
27449293 |
2016 |
|
melanoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The identification of POT1 and TERT germline mutations highlights the importance of telomere integrity in melanoma biology.
|
26433962 |
2016 |
|
Leukemia, Myelocytic, Acute
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Down-regulation of TERT expression similarly occurred in primary leukemic cells derived from AML patients exposed to 5-AZA.
|
25682873 |
2015 |
|
melanoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The recently described telomerase reverse transcriptase (TERT) promoter mutations are recurrent in cutaneous melanoma.
|
26055532 |
2015 |
|
melanoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The recent identification of a high frequency of driver mutations in the promoter of the telomerase reverse transcriptase (TERT) gene in cutaneous melanoma led us to investigate whether these mutations also occur in SNMM.
|
25746036 |
2015 |
|
melanoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We observed statistically significant associations with melanoma for two lung cancer SNPs in the TERT-CLPTM1L locus (Bonferroni-corrected p<2.8x10-4), replicating known pleiotropic effects at this locus.
|
25789475 |
2015 |
|
melanoma
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Recently, recurrent mutations within the core promoter of the human telomerase reverse transcriptase (TERT) gene generating consensus binding sites for ETS transcription factor family members were described in melanomas and other malignancies (e.g. bladder cancer, hepatocellular carcinoma).
|
25997473 |
2015 |