title: Prevalence of promoter mutations in the TERT gene in oral cavity squamous cell carcinoma.
abstract: Mutations in the human telomerase reverse transcriptase (TERT) promoter contribute to increased TERT activity. The purpose of the present study was to assess the prevalence of TERT promoter mutations in oral cavity squamous cell carcinoma (SCC).
  
  
  
  Total DNA was extracted from 201 oral cavity SCC tumors and adjacent normal tissues. Primers were used to amplify the sequence region containing 2 TERT promoter mutations (C228T and C250T) that were then sequenced using the Sanger method.
  
  
  
  Sequencing revealed that 52.5% (104/201) and 12.9% (26/201) of oral cavity SCC tumor tissues and 6.0% (12/201) and 2.5% (5/201) of adjacent normal tissues contained C228T and C250T mutations, respectively. In addition, the C228T mutation was significantly associated with betel nut chewing.
  
  
  
  Our results show that mutations in the TERT promoter occur in patients with oral cavity SCC at a high frequency. This suggests that somatic TERT promoter mutations could play a vital role in the pathogenesis and progression of oral cavity SCC. © 2017 Wiley Periodicals, Inc. Head Neck 39: 1131-1137, 2017.
authors.affiliation: Department of Otolaryngology - Head and Neck Surgery, Chang Gung Memorial Hospital, Tao-Yuan, Taiwan.|Molecular Medicine Research Center, College of Medicine, Chang Gung University, Tao-Yuan, Taiwan.|College of Medicine, Chang Gung University, Tao-Yuan, Taiwan.
authors.forename: Kai-Ping
authors.identifier: 0000-0003-1777-9578
authors.initials: KP
authors.lastname: Chang
authors.affiliation: Department of Otolaryngology - Head and Neck Surgery, Chang Gung Memorial Hospital, Tao-Yuan, Taiwan.
authors.forename: Chun-I
authors.initials: CI
authors.lastname: Wang
authors.affiliation: Department of Head and Neck Surgery, The University of Texas MD Anderson Cancer Center, Houston, Texas.
authors.forename: Curtis R
authors.initials: CR
authors.lastname: Pickering
authors.affiliation: Department of Pathology, Chang Gung Memorial Hospital, Tao-Yuan, Taiwan.
authors.forename: Yenlin
authors.initials: Y
authors.lastname: Huang
authors.affiliation: Graduate Institute of Clinical Medical Sciences, Chang Gung University, Tao-Yuan, Taiwan.
authors.forename: Chi-Neu
authors.initials: CN
authors.lastname: Tsai
authors.affiliation: Department of Radiation Oncology, Chang Gung Memorial Hospital, Tao-Yuan, Taiwan.
authors.forename: Ngan-Ming
authors.initials: NM
authors.lastname: Tsang
authors.affiliation: Department of Plastic and Reconstructive Surgery, Chang Gung Memorial Hospital, Tao-Yuan, Taiwan.|College of Medicine, Chang Gung University, Tao-Yuan, Taiwan.
authors.forename: Huang-Kai
authors.initials: HK
authors.lastname: Kao
authors.affiliation: Department of Plastic and Reconstructive Surgery, Chang Gung Memorial Hospital, Tao-Yuan, Taiwan.|College of Medicine, Chang Gung University, Tao-Yuan, Taiwan.
authors.forename: Ming-Huei
authors.initials: MH
authors.lastname: Cheng
authors.affiliation: Department of Head and Neck Surgery, The University of Texas MD Anderson Cancer Center, Houston, Texas.
authors.forename: Jeffrey N
authors.initials: JN
authors.lastname: Myers
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002294:Carcinoma, Squamous Cell / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D015331:Cohort Studies; D018450:Disease Progression; D018572:Disease-Free Survival; D005260:Female; D015972:Gene Expression Regulation, Neoplastic; D006801:Humans; D053208:Kaplan-Meier Estimate; D008297:Male; D008875:Middle Aged; D009062:Mouth Neoplasms / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D015995:Prevalence; D011401:Promoter Regions, Genetic; D060888:Real-Time Polymerase Chain Reaction / Q000379:methods; D012189:Retrospective Studies; D018570:Risk Assessment; D018709:Statistics, Nonparametric; D016019:Survival Analysis; D013624:Taiwan; D019098:Telomerase / Q000235:genetics*
chemical_list: C509186:TERT protein, human; D019098:Telomerase
keywords: mutation; oral cavity squamous cell carcinoma; promoter; telomerase reverse transcriptase; telomere