Urinary TERT promoter mutations are detectable up to 10 years prior to clinical diagnosis of bladder cancer: Evidence from the Golestan Cohort Study
| العنوان: | Urinary TERT promoter mutations are detectable up to 10 years prior to clinical diagnosis of bladder cancer: Evidence from the Golestan Cohort Study |
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| المؤلفون: | Gholamreza Roshandel, Elisabete Weiderpass, Christian C. Abnet, Tiffany M. Delhomme, Mahdi Sheikh, Nathalie Forey, Catherine Voegele, James McKay, Arash Etemadi, Florence Le Calvez-Kelm, Ghislaine Scelo, Arnaud Manel, Sanford M. Dawsey, Priscilia Chopard, Farin Kamangar, Masoud Khoshnia, Paul Brennan, Masoud Sotoudeh, Patrice H. Avogbe, Geoffroy Durand, Emmanuel Vian, Ismail Hosen, Hossein Poustchi, Reza Malekzadeh, Paolo Boffetta, Matthieu Foll, Maria I. Zvereva, Arash Nikmanesh, Paul D. Pharaoh |
| المصدر: | EBioMedicine EBioMedicine, Vol 53, Iss, Pp-(2020) |
| بيانات النشر: | Elsevier BV, 2020. |
| سنة النشر: | 2020 |
| مصطلحات موضوعية: | Adult, Male, 0301 basic medicine, Oncology, medicine.medical_specialty, Research paper, Urinary system, Population, lcsh:Medicine, General Biochemistry, Genetics and Molecular Biology, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Biomarkers, Tumor, medicine, Humans, Cumulative incidence, Genetic Testing, Promoter Regions, Genetic, education, Prospective cohort study, Telomerase, Aged, lcsh:R5-920, education.field_of_study, Bladder cancer, business.industry, lcsh:R, Cancer, Early detection, General Medicine, Prospective cohort, Middle Aged, medicine.disease, Early Diagnosis, 030104 developmental biology, Urinary Bladder Neoplasms, Urinary biomarker, 030220 oncology & carcinogenesis, Mutation, Cohort, Female, lcsh:Medicine (General), business, TERT promoter mutations, Cohort study |
| الوصف: | Background: Detecting pre-clinical bladder cancer (BC) using urinary biomarkers may provide a valuable opportunity for screening and management. Telomerase reverse transcriptase (TERT) promoter mutations detectable in urine have emerged as promising BC biomarkers. Methods: We performed a nested case-control study within the population-based prospective Golestan Cohort Study (50,045 participants, followed up to 14 years) and assessed TERT promoter mutations in baseline urine samples from 38 asymptomatic individuals who subsequently developed primary BC and 152 matched controls using a Next-Generation Sequencing-based single-plex assay (UroMuTERT) and droplet digital PCR assays. Findings: Results were obtained for 30 cases and 101 controls. TERT promoter mutations were detected in 14 pre-clinical cases (sensitivity 46·67%) and none of the controls (specificity 100·00%). At an estimated BC cumulative incidence of 0·09% in the cohort, the positive and negative predictive values were 100·00% and 99·95% respectively. The mutant allelic fractions decreased with the time interval from urine collection until BC diagnosis (p = 0·033) but the mutations were detectable up to 10 years prior to clinical diagnosis. Interpretation: Our results provide the first evidence from a population-based prospective cohort study of the potential of urinary TERT promoter mutations as promising non-invasive biomarkers for early detection of BC. Further studies should validate this finding and assess their clinical utility in other longitudinal cohorts. Funding: French Cancer League, World Cancer Research Fund International, Cancer Research UK, Tehran University of Medical Sciences, the International Agency for Research on Cancer, and the U.S. National Cancer Institute. Keywords: Early detection, TERT promoter mutations, Urinary biomarker, Bladder cancer, Prospective cohort |
| تدمد: | 2352-3964 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::688bbc68248a9f0174f792bb2f512efdTest https://doi.org/10.1016/j.ebiom.2020.102643Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....688bbc68248a9f0174f792bb2f512efd |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 23523964 |
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