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.
Result: 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.
Conclusion: 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.
Keywords: Indian population; mutation; oral squamous cell carcinoma; phosphatase and tensin homologue; single-Nucleotide Polymorphism.
© 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.