Telomerase Reverse Transcriptase Promoter Mutations in Bladder Cancer: High Frequency Across Stages, Detection in Urine, and Lack of Association with Outcome

• Published in: European urology Vol. 65; no. 2; pp. 360 - 366
• Main Authors: Allory, Yves, Beukers, Willemien, Sagrera, Ana, Flández, Marta, Marqués, Miriam, Márquez, Mirari, van der Keur, Kirstin A., Dyrskjot, Lars, Lurkin, Irene, Vermeij, Marcel, Carrato, Alfredo, Lloreta, Josep, Lorente, José A., Carrillo-de Santa Pau, Enrique, Masius, Roy G., Kogevinas, Manolis, Steyerberg, Ewout W., van Tilborg, Angela A.G., Abas, Cheno, Orntoft, Torben F., Zuiverloon, Tahlita C.M., Malats, Núria, Zwarthoff, Ellen C., Real, Francisco X.
• Format: Journal Article
• Language: English
• Published: Kidlington Elsevier B.V 01.02.2014; Elsevier
• Subjects: Aged; Biological and medical sciences; Biomarkers, Tumor - genetics; Biomarkers, Tumor - urine; Bladder cancer; Cell Line, Tumor; Clinical end point; Disease Progression; Disease-Free Survival; DNA Mutational Analysis; Female; Genetic Predisposition to Disease; Genetic Testing - methods; Humans; Male; Medical sciences; Multiple tumors. Solid tumors. Tumors in childhood (general aspects); Mutation; Neoplasm Grading; Neoplasm Recurrence, Local; Neoplasm Staging; Nephrology. Urinary tract diseases; Netherlands; Phenotype; Predictive Value of Tests; Promoter Regions, Genetic; Retrospective Studies; Reverse Transcriptase Polymerase Chain Reaction; Risk Factors; RNA, Messenger - urine; Somatic mutations; Spain; Telomerase - genetics; Telomerase - urine; TERT gene; Time Factors; Tumors; Tumors of the urinary system; Urinary Bladder Neoplasms - enzymology; Urinary Bladder Neoplasms - genetics; Urinary Bladder Neoplasms - mortality; Urinary Bladder Neoplasms - pathology; Urinary Bladder Neoplasms - therapy; Urinary Bladder Neoplasms - urine; Urinary tract. Prostate gland; Urine-based diagnosis; Urology; Netherlands; Spain; Urine-based diagnosis; Somatic mutations; TERT gene; Bladder cancer; Clinical end point; Nephrology; Prognosis; RNA-directed DNA polymerase; Reverse transcription; Urology; Somatic mutation; Promoter; Association; Gene; Genetics; Advanced stage; Diagnosis; Telomerase; Urine; Urinary system disease; Enzyme; Transferases; Reverse mutation; Urinary tract disease; Malignant tumor; Nucleotidyltransferases; Frequency; Bladder disease; High frequency; Cancer

Hotspot mutations in the promoter of the gene coding for telomerase reverse transcriptase (TERT) have been described and proposed to activate gene expression. To investigate TERT mutation frequency, spectrum, association with expression and clinical outcome, and potential for detection of recurrence...