title: Molecular characterization of oral squamous cell carcinoma using targeted next-generation sequencing.
abstract: OBJECTIVE
  Many genetic factors play an important role in the development of oral squamous cell carcinoma. The aim of this study was to assess the mutational profile in oral squamous cell carcinoma using formalin-fixed, paraffin-embedded tumors from a Taiwanese population by performing targeted sequencing of 26 cancer-associated genes that are frequently mutated in solid tumors.
  
  
  METHODS
  Next-generation sequencing was performed in 50 formalin-fixed, paraffin-embedded tumor specimens obtained from patients with oral squamous cell carcinoma. Genetic alterations in the 26 cancer-associated genes were detected using a deep sequencing (>1000X) approach.
  
  
  RESULTS
  TP53, PIK3CA, MET, APC, CDH1, and FBXW7 were most frequently mutated genes. Most remarkably, TP53 mutations and PIK3CA mutations, which accounted for 68% and 18% of tumors, respectively, were more prevalent in a Taiwanese population. Other genes including MET (4%), APC (4%), CDH1 (2%), and FBXW7 (2%) were identified in our population.
  
  
  CONCLUSIONS
  In summary, our study shows the feasibility of performing targeted sequencing using formalin-fixed, paraffin-embedded samples. Additionally, this study also reports the mutational landscape of oral squamous cell carcinoma in the Taiwanese population. We believe that this study will shed new light on fundamental aspects in understanding the molecular pathogenesis of oral squamous cell carcinoma and may aid in the development of new targeted therapies.
authors.affiliation: Division of Molecular Diagnostics, Department of Laboratory Medicine, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan.|Department of Medical Laboratory Science and Biotechnology, College of Health Sciences, Kaohsiung Medical University, Kaohsiung, Taiwan.
authors.forename: Tze-Kiong
authors.initials: TK
authors.lastname: Er
authors.affiliation: Department of Medical Research, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan.
authors.forename: Yen-Yun
authors.initials: YY
authors.lastname: Wang
authors.affiliation: Center for Lipid Biosciences, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan.|Center for Lipid and Glycomedicine Research, Kaohsiung Medical University, Kaohsiung, Taiwan.|Institute of Medical Science and Technology, National Sun Yat-sen University, Kaohsiung, Taiwan.
authors.forename: Chih-Chieh
authors.initials: CC
authors.lastname: Chen
authors.affiliation: Department of Gastroenterology, Hospital Donostia/Instituto Biodonostia, Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Universidad del País Vasco UPV/EHU, San Sebastián, Spain.
authors.forename: Marta
authors.initials: M
authors.lastname: Herreros-Villanueva
authors.affiliation: Division of Molecular Diagnostics, Department of Laboratory Medicine, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan.|Division of Hematology and Oncology, Department of Internal Medicine, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan.|Institute of Clinical Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan.
authors.forename: Ta-Chih
authors.initials: TC
authors.lastname: Liu
authors.affiliation: Department of Medical Research, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan.|Center for Lipid and Glycomedicine Research, Kaohsiung Medical University, Kaohsiung, Taiwan.|Department of Obstetrics and Gynecology, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan.|Translational Research Center, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan.
authors.forename: Shyng-Shiou F
authors.initials: SS
authors.lastname: Yuan
mesh_terms: D025601:Adenomatous Polyposis Coli Protein / Q000235:genetics; D015703:Antigens, CD; D044466:Asian People / Q000235:genetics; D015820:Cadherins / Q000235:genetics; D002294:Carcinoma, Squamous Cell / Q000235:genetics*; D018797:Cell Cycle Proteins / Q000235:genetics; D058534:Class I Phosphatidylinositol 3-Kinases; D004252:DNA Mutational Analysis / Q000379:methods*; D044783:F-Box Proteins / Q000235:genetics; D000073979:F-Box-WD Repeat-Containing Protein 7; D006801:Humans; D009062:Mouth Neoplasms / Q000235:genetics*; D019869:Phosphatidylinositol 3-Kinases / Q000235:genetics; D019859:Proto-Oncogene Proteins c-met / Q000235:genetics; D013624:Taiwan; D016159:Tumor Suppressor Protein p53 / Q000235:genetics; D044767:Ubiquitin-Protein Ligases / Q000235:genetics
chemical_list: D025601:Adenomatous Polyposis Coli Protein; D015703:Antigens, CD; D015820:Cadherins; D018797:Cell Cycle Proteins; D058534:Class I Phosphatidylinositol 3-Kinases; D044783:F-Box Proteins; D000073979:F-Box-WD Repeat-Containing Protein 7; D019869:Phosphatidylinositol 3-Kinases; D019859:Proto-Oncogene Proteins c-met; D016159:Tumor Suppressor Protein p53; D044767:Ubiquitin-Protein Ligases; C555337:APC protein, human; C513384:CDH1 protein, human; C513273:FBXW7 protein, human; C484760:PIK3CA protein, human; C491743:MET protein, human
keywords: Oral squamous cell carcinoma; PIK3CA mutation; TP53 mutation; next-generation sequencing