title: Targeted next-generation sequencing of TP53 in oral tongue carcinoma from non-smokers.
abstract: BACKGROUND
  Little is known regarding the etiology and genomic underpinnings of Oral Tongue Squamous Cell Carcinoma (OTSCC) in patients who lack traditional risk factors, yet the incidence is increasing. In particular, the rate, and role, of TP53 mutations in this cohort has been heavily debated in the literature.
  
  
  METHODS
  Tumor DNA from forty-three non-smokers with OTSCC underwent next generation sequencing of TP53.
  
  
  RESULTS
  Sixty percent of samples contained a TP53 mutation. The G > T transversion rate was 5.7 %. TP53 status did not differ by age.
  
  
  CONCLUSIONS
  OTSCC in non-smokers have TP53 mutation rates similar to other Head and Neck cancers yet these mutations do not appear related to carcinogen exposure based on the mutational spectrum and clinical history. The mechanisms driving tumorigenesis in this cohort, including mutations in TP53, remain elusive and further studies are needed.
authors.affiliation: Department of Otolaryngology-Head and Neck Surgery, University of California, 2380 Sutter St First Floor, San Francisco, CA, 94115, USA. Daniel.Faden@ucsf.edu.
authors.forename: Daniel L
authors.initials: DL
authors.lastname: Faden
authors.affiliation: Department of Dermatology, University of California, San Francisco, CA, USA.
authors.forename: Sarah T
authors.initials: ST
authors.lastname: Arron
authors.affiliation: Department of Otolaryngology-Head and Neck Surgery, University of California, 2380 Sutter St First Floor, San Francisco, CA, 94115, USA.
authors.forename: Chase M
authors.initials: CM
authors.lastname: Heaton
authors.affiliation: Department of Biochemistry and Biophysics, University of California, San Francisco, CA, USA.
authors.forename: Joseph
authors.initials: J
authors.lastname: DeRisi
authors.affiliation: Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA, USA.
authors.forename: Andrew P
authors.initials: AP
authors.lastname: South
authors.affiliation: Department of Otolaryngology-Head and Neck Surgery, University of California, 2380 Sutter St First Floor, San Francisco, CA, 94115, USA.
authors.forename: Steven J
authors.initials: SJ
authors.lastname: Wang
mesh_terms: D000328:Adult; D002273:Carcinogens; D002294:Carcinoma, Squamous Cell / Q000235:genetics*; D004273:DNA, Neoplasm / Q000032:analysis; D006258:Head and Neck Neoplasms / Q000235:genetics; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D015994:Incidence; D008875:Middle Aged; D009154:Mutation; D017422:Sequence Analysis, DNA / Q000379:methods; D014062:Tongue Neoplasms / Q000235:genetics*; D016159:Tumor Suppressor Protein p53 / Q000235:genetics*
chemical_list: D002273:Carcinogens; D004273:DNA, Neoplasm; D016159:Tumor Suppressor Protein p53
keywords: Oral tongue carcinoma; TP53