|
LOC110806263
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Although TERT promoter mutations have been associated with a worsened prognosis in melanoma, the relationship between mutation status and downstream telomerase activity and telomere length remains convoluted.
|
31425705 |
2020 |
|
LOC110806263
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Comparing tumours situated on palms and soles with melanomas arising on dorsal acral sites, a higher frequency of NRAS (39.1% versus 25%) and NF1 (17.3% versus 0%) and lower frequencies of BRAF (21.7% versus 75%) and TERT promoter (8.6% versus 50%) mutations were observed.
|
31419753 |
2019 |
|
LOC110806263
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
TERT promoter mutations were the most prevalent mutation type in PLA-positive melanomas; 82% of PLA-negative lesions had no mutations, and 97% of histopathologically confirmed melanomas were PLA and/or mutation positive (cohort 1, n = 103).
|
30500343 |
2019 |
|
LOC110806263
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Previously, the TERT promoter mutations were shown to associate with markers of poor outcome and reduced survival in patients with primary melanoma.
|
30070694 |
2019 |
|
LOC110806263
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In particular, the high specificity of these mutations for melanoma indicates the presence of a TERT promoter mutation in a melanocytic neoplasm associated with diagnostic controversy, or uncertainty should increase concern for a melanoma.
|
30211730 |
2019 |
|
LOC110806263
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The role of TERT promoter mutations in differentiating recurrent nevi from recurrent melanomas: A retrospective, case-control study.
|
30287318 |
2019 |
|
LOC110806263
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The frequency of TERT promoter germline mutations in families with melanoma in our population is extremely rare.
|
30451293 |
2019 |
|
LOC110806263
|
0.100 |
Biomarker
|
disease |
BEFREE |
Distribution of BRAF mutations did not differ across multiple melanomas (P = 0.85), whereas TERT promoter changes decreased from first to subsequent melanomas (P = 0.04).
|
29061376 |
2018 |
|
LOC110806263
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The aims of this study were to assess the prognostic potential of solar elastosis grading and telomerase reverse transcriptase (TERT) promoter mutations (TERTp) in melanoma and to evaluate whether an association between solar elastosis and TERTp exists.
|
29570169 |
2018 |
|
LOC110806263
|
0.100 |
Biomarker
|
disease |
BEFREE |
The etiology and pathogenesis of the pediatric melanoma is currently being investigated; studies have examined the genetic alterations that may be involved with the development of pediatric melanomas including TERT promoter, BRAF, and NRAS among others.
|
29485257 |
2018 |
|
LOC110806263
|
0.100 |
Biomarker
|
disease |
BEFREE |
Although limited by sample size, our findings suggest that consideration be given to mutational analysis of metastatic tissue rather than the primary to guide BRAF-targeted therapy and question the roles of TERT promoter mutations and PD-L1 as predictive biomarkers in malignant melanoma.
|
30120967 |
2018 |
|
LOC110806263
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Paradoxically, we observed shorter telomeres (P = 1 × 10<sup>-5</sup> ) in primary tumors from unrelated melanoma patients with (121) than without (170) somatic TERT promoter mutations that similar to the germline mutation, also create binding motifs for ETS transcription factors.
|
30203894 |
2018 |
|
LOC110806263
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Overall, TERT promoter alterations were among the most prevalent aberrations in this population, with very high rates in brain cancers (48% of patients) and melanomas (56% of patients).
|
29211306 |
2018 |
|
LOC110806263
|
0.100 |
Biomarker
|
disease |
BEFREE |
Here we evaluated the detection of common mutations in BRAF, NRAS, and TERT promoter in 40 melanoma FFPE tissues using Droplet Digital (dd)PCR, and compared the results to the detection rates obtained by Sanger sequencing and pyrosequencing.
|
29305225 |
2018 |
|
LOC110806263
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
TERT promoter mutations are frequent in melanoma.
|
29123258 |
2018 |
|
LOC110806263
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To determine the prognostic value of TERT alterations in AYA melanoma, we investigated the association of TERT promoter mutations, as well as promoter methylation, an epigenetic alteration also linked to TERT upregulation, with TERT mRNA expression and outcome using a well-characterized cohort of 27 patients with melanoma (ages 8-25, mean 20).
|
28378855 |
2017 |
|
LOC110806263
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We validated μ-cisTarget by re-analyzing the TAL1 and LMO1 enhancer mutations in T-ALL, and the TERT promoter mutation in melanoma.
|
28854983 |
2017 |
|
LOC110806263
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Here we screen a panel of 115 melanoma tumor samples from Austrian patients to evaluate the prevalence and distribution of TERT promoter mutations.
|
27990595 |
2017 |
|
LOC110806263
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Herein, we describe the use of combined bisulfite restriction enzyme analysis (COBRA) as a diagnostic tool for detecting the hypermethylated TERT promoter using in vitro methylated and unmethylated genomic DNA as well as genomic DNA from four melanomas and two benign melanocytic lesions.
|
28284778 |
2017 |
|
LOC110806263
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In this study, we aimed to assess the prognostic value of TERT promoter mutations in primary melanomas.
|
26875008 |
2016 |
|
LOC110806263
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Here, we perform an unbiased proteome-wide survey of transcription factor binding at TERT promoter mutations in melanoma.
|
26553150 |
2016 |
|
LOC110806263
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
TERT promoter mutations in melanoma render TERT expression dependent on MAPK pathway activation.
|
27449293 |
2016 |
|
LOC110806263
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Hence, combined targeting of RAS-ERK and TERT promoter remodeling is a promising avenue to limit long-term survival of a majority of melanomas that harbor these two mutations.
|
27911794 |
2016 |
|
LOC110806263
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Recurrent somatic mutations in the TERT promoter region were first reported in human melanomas.
|
25862495 |
2015 |
|
LOC110806263
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Because TERT promoter (TERT-p) mutations are common in inherently aggressive cutaneous conventional melanoma, we sought to evaluate their prognostic significance in spitzoid neoplasms.
|
26061100 |
2015 |