scholarly journals The prognostic impact of TERT promoter mutations in glioblastomas is modified by the rs2853669 single nucleotide polymorphism

2016 ◽  
Vol 139 (2) ◽  
pp. 414-423 ◽  
Author(s):  
Rui Batista ◽  
Adriana Cruvinel-Carloni ◽  
João Vinagre ◽  
Joana Peixoto ◽  
Telmo A. Catarino ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Prognostic Impact ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Tert Promoter ◽  
Tert Promoter Mutations ◽  
Promoter Mutations

scholarly journals Human TERT promoter mutations as a prognostic biomarker in glioma

2021 ◽  
Vol 147 (4) ◽  
pp. 1007-1017
Author(s):  
Branka Powter ◽  
Sarah A. Jeffreys ◽  
Heena Sareen ◽  
Adam Cooper ◽  
Daniel Brungs ◽  
...  
Keyword(s):  
Clinical Utility ◽  
Nucleotide Polymorphism ◽  
Liquid Biopsies ◽  
Single Nucleotide ◽  
Tert Promoter ◽  
Tert Promoter Mutations ◽  
Potential Clinical Utility ◽  
Promoter Mutations ◽  
The Relationship ◽  
Potential Use

AbstractThe TERT promoter (pTERT) mutations, C228T and C250T, play a significant role in malignant transformation by telomerase activation, oncogenesis and immortalisation of cells. C228T and C250T are emerging as important biomarkers in many cancers including glioblastoma multiforme (GBM), where the prevalence of these mutations is as high as 80%. Additionally, the rs2853669 single nucleotide polymorphism (SNP) may cooperate with these pTERT mutations in modulating progression and overall survival in GBM. Using liquid biopsies, pTERT mutations, C228T and C250T, and other clinically relevant biomarkers can be easily detected with high precision and sensitivity, facilitating longitudinal analysis throughout therapy and aid in cancer patient management.In this review, we explore the potential for pTERT mutation analysis, via liquid biopsy, for its potential use in personalised cancer therapy. We evaluate the relationship between pTERT mutations and other biomarkers as well as their potential clinical utility in early detection, prognostication, monitoring of cancer progress, with the main focus being on brain cancer.

Effect of single‐nucleotide polymorphism in TERT promoter on follicular thyroid tumor development

2020 ◽  
Vol 70 (4) ◽  
pp. 210-216
Author(s):  
Tatsuya Hirokawa ◽  
Yuu Arimasu ◽  
Yoko Nakazato ◽  
Tomohiro Chiba ◽  
Masachika Fujiwara ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Tumor Development ◽  
Thyroid Tumor ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Tert Promoter

No Prognostic Impact of the WT1 Gene Single Nucleotide Polymorphism rs16754 in Pediatric Acute Myeloid Leukemia

2010 ◽  
Vol 28 (28) ◽  
pp. e523-e526 ◽  
Author(s):  
Iris H.I.M. Hollink ◽  
Marry M. van den Heuvel-Eibrink ◽  
Martin Zimmermann ◽  
Brian V. Balgobind ◽  
Susan T.C.J.M. Arentsen-Peters ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Acute Myeloid Leukemia ◽  
Myeloid Leukemia ◽  
Prognostic Impact ◽  
Wt1 Gene ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Pediatric Acute Myeloid Leukemia ◽  
Gene Single Nucleotide Polymorphism ◽  
Acute Myeloid

scholarly journals TERT Promoter Mutations and rs2853669 Polymorphism: Useful Markers for Clinical Outcome Stratification of Patients With Oral Cavity Squamous Cell Carcinoma

2021 ◽  
Vol 11 ◽  
Author(s):  
Silvia Giunco ◽  
Paolo Boscolo-Rizzo ◽  
Enrica Rampazzo ◽  
Giancarlo Tirelli ◽  
Lara Alessandrini ◽  
...  
Keyword(s):  
Squamous Cell Carcinoma ◽  
Cell Carcinoma ◽  
Squamous Cell ◽  
Prognostic Significance ◽  
Nucleotide Polymorphism ◽  
Biological Behaviour ◽  
Single Nucleotide ◽  
Tert Promoter Mutations ◽  
Promoter Mutations ◽  
The Impact

ObjectiveTo date, no useful prognostic biomarker exists for patients with oral squamous cell carcinoma (OCSCC), a tumour with uncertain biological behaviour and subsequent unpredictable clinical course. We aim to investigate the prognostic significance of two recurrent somatic mutations (-124 C>T and -146 C>T) within the promoter of telomerase reverse transcriptase (TERT) gene and the impact of TERT single nucleotide polymorphism (SNP) rs2853669 in patients surgically treated for OCSCC.MethodsThe genetic frequencies of rs2853669, -124 C>T and -146 C>T as well as the telomere length were investigated in 144 tumours and 57 normal adjacent mucosal (AM) specimens from OCSCC patients.ResultsForty-five tumours harboured TERT promoter mutations (31.3%), with -124 C>T and -146 C>T accounting for 64.4% and 35.6% of the alterations respectively. Patients with -124 C>T TERT promoter mutated tumours had the shortest telomeres in the AM (p=0.016) and showed higher risk of local recurrence (hazard ratio [HR]:2.75, p=0.0143), death (HR:2.71, p=0.0079) and disease progression (HR:2.71, p=0.0024) with the effect being potentiated by the co-occurrence of T/T genotype of rs2853669.Conclusion-124 C>T TERT promoter mutation as well as the T/T genotype of the rs2853669 SNP are attractive independent prognostic biomarkers in patients surgically treated for OCSCC, with the coexistence of these genetic variants showing a synergistic impact on the aggressiveness of the disease.

TERT promoter mutations and rs2853669 polymorphism: prognostic impact and interactions with common alterations in glioblastomas

2015 ◽  
Vol 126 (3) ◽  
pp. 441-446 ◽  
Author(s):  
Umberto Nencha ◽  
Amithys Rahimian ◽  
Marine Giry ◽  
Andrea Sechi ◽  
Karima Mokhtari ◽  
...  
Keyword(s):  
Prognostic Impact ◽  
Tert Promoter ◽  
Tert Promoter Mutations ◽  
Promoter Mutations

scholarly journals Paradoxical prognostic impact of TERT promoter mutations in gliomas depends on different histological and genetic backgrounds

2017 ◽  
Vol 23 (10) ◽  
pp. 790-797 ◽  
Author(s):  
Hao You ◽  
Yao Wu ◽  
Kai Chang ◽  
Xiao Shi ◽  
Xin-Da Chen ◽  
...  
Keyword(s):  
Prognostic Impact ◽  
Tert Promoter ◽  
Tert Promoter Mutations ◽  
Promoter Mutations

scholarly journals The MGMT promoter single-nucleotide polymorphism rs1625649 had prognostic impact on patients with MGMT methylated glioblastoma

PLoS ONE ◽  
2017 ◽  
Vol 12 (10) ◽  
pp. e0186430 ◽  
Author(s):  
Chih-Yi Hsu ◽  
Hsiang-Ling Ho ◽  
Shih-Chieh Lin ◽  
Tiffany Dai-Hwa Ho ◽  
Donald Ming-Tak Ho
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Prognostic Impact ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Mgmt Promoter

Adverse Prognostic Impact of Abnormal Lesions Detected by Genome-Wide Single Nucleotide Polymorphism Array–Based Karyotyping Analysis in Acute Myeloid Leukemia With Normal Karyotype

2011 ◽  
Vol 29 (35) ◽  
pp. 4702-4708 ◽  
Author(s):  
Jun Ho Yi ◽  
Jungwon Huh ◽  
Hee-Jin Kim ◽  
Sun-Hee Kim ◽  
Hyeoung-Joon Kim ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Acute Myeloid Leukemia ◽  
Myeloid Leukemia ◽  
Single Nucleotide Polymorphism Array ◽  
Normal Karyotype ◽  
Prognostic Impact ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Genome Wide ◽  
Acute Myeloid

Purpose This study attempted to analyze the prognostic role of single nucleotide polymorphism array (SNP-A) –based karyotying in 133 patients with acute myeloid leukemia with normal karyotype (AML-NK), which presents with diverse clinical outcomes, thus requiring further stratification of patient subgroups according to their prognoses. Patients and Methods A total of 133 patients with AML-NK confirmed by metaphase cytogenetics (MC) and fluorescent in situ hybridization analysis were included in this study. Analysis by Genome-Wide Human SNP 6.0 Array was performed by using DNAs derived from marrow samples at diagnosis. Results Forty-three patients (32.3%) had at least one abnormal SNP lesion that was not detected by MC. One hundred thirteen abnormal SNP lesions included 55 losses, 23 gains, and 35 copy-neutral losses of heterozygosity. Multivariate analyses showed that detection of abnormal SNP lesions by SNP-A karyotyping results in an unfavorable prognostic value for overall survival (hazard ratio [HR], 2.69; 95% CI, 1.50 to 4.82; P = .001); other significant prognostic factors included secondary AML (HR, 5.55; 95% CI, 1.80 to 17.14; P = .003), presence of the FLT3 mutation (HR, 3.17; 95% CI, 1.71 to 5.87; P < .001), and age (HR, 1.03; 95% CI, 1.01 to 1.05; P = .020). Conclusion Our data demonstrated that abnormal SNP lesions detected by SNP-A karyotyping might indicate an adverse prognosis in patients with AML-NK, thus requiring a more sophisticated treatment strategy for improvement of treatment outcomes.

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