Inactivation of the PTEN gene by mutation, exonic deletion, and loss of transcript in human oral squamous cell carcinomas

• DOI: 10.3892/ijo.21.5.997
• Publication Date: 2014-03-10T07:28:35Z
• Authors: K.-H. Shin; J.-M. Kim; K. Rho; K.-H. Park; J.-E. Oh; B.-M. Min
• Keywords: Microsatellite Instability

PTEN, a tumor suppressor gene, has been found to be inactivated by structural abnormalities or epigenetic changes in several types of human cancers. Recently, studies have also suggested the possibility that PTEN gene is target genomic instability cancers displaying microsatellite (MSI). To investigate role oral squamous cell carcinomas, we screened entire coding region sequences and examined expression 81 stability (MSS) 5 MSI. Mutation was identified one MSS cancer (1/81; 1.2%) three MSI (3/5; 60%). The harbored missense mutation from Ala (GCA) Val (GTA) at codon 137. Of containing mutation, case 36 had Lys (AAA) Glu (GAA) 254, 43 contained frameshift (one A deletion) 6 bp poly(A) tract affecting 265-267, 64 two mutations (GTG) (GCG) 222, Gly (GGA) Arg (AGA) 230 indicating biallelic PTEN. Genomic deletion exon 5, resulting loss mRNA, observed In spite an intact lacked mRNA. These findings suggest inactivation either transcript plays pathogenesis some (8/86; 9.3%). Furthermore, far more frequent (4/5; 80%) than (4/81; 4.9%).