title: Genetic profile of PTEN gene in Indian oral squamous cell carcinoma primary tumors.
abstract: BACKGROUND
  Phosphatase and tensin homolog (PTEN) is the tumor suppressor gene located on chromosome10q23.3. Genetic variations in the PTEN gene have been found in various sporadic tumors. However, petite is known about the genetic profile of the PTEN gene in oral squamous cell carcinoma (OSCC), which is the eighth most common neoplasm worldwide and leading cancer in India. The purpose of the present study was to determine the frequency of genetic variations in the tyrosine phosphatase domain of the PTEN gene in an Indian OSCC subset.
  
  
  METHODS
  We analyzed tyrosine phosphatase domain encoded by exon 5 of the PTEN gene in 59 OSCC primary tumors using PCR - direct genomic sequencing.
  
  
  RESULTS
  We observed one somatic deletion mutation, IVS4-30delT in three OSCC patients; two of them were at an advanced stage of carcinoma. Moreover, we identified one SNP rs 35560700(C>T), in five OSCC patients with the late stage of oral carcinoma.
  
  
  CONCLUSIONS
  We identified 5% somatic mutational frequency in the intronic region of the tyrosine phosphatase domain of the PTEN gene; however, mutations were found absent in the coding region. Therefore, PTEN gene mutation is not a frequent event in the pathogenesis of OSCC in the targeted Indian cohort.
authors.affiliation: Lab #103B, BRD School of Biosciences, Sardar Patel University, Gujarat, India.
authors.forename: Sejal
authors.initials: S
authors.lastname: Shah
authors.affiliation: Lab #103B, BRD School of Biosciences, Sardar Patel University, Gujarat, India.
authors.forename: Dhara
authors.initials: D
authors.lastname: Jajal
authors.affiliation: Department of E N T, P. S. Medical College, Karamsad, Gujarat, India.
authors.forename: Girish
authors.initials: G
authors.lastname: Mishra
authors.affiliation: Lab #103B, BRD School of Biosciences, Sardar Patel University, Gujarat, India.|National Institute of Pharmaceuticals Education and Research (NIPER), Ahmedabad, Gujarat, India.
authors.forename: Kiran
authors.initials: K
authors.lastname: Kalia
mesh_terms: D000328:Adult; D000368:Aged; D002294:Carcinoma, Squamous Cell / Q000208:ethnology / Q000235:genetics*; D005260:Female; D006801:Humans; D007194:India; D008297:Male; D008875:Middle Aged; D009062:Mouth Neoplasms / Q000208:ethnology / Q000235:genetics*; D009154:Mutation; D051059:PTEN Phosphohydrolase / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human
keywords: Indian population; mutation; oral squamous cell carcinoma; phosphatase and tensin homologue; single-Nucleotide Polymorphism