Novel AKT1 mutations associated with cell-cycle abnormalities in gastric carcinoma

Per Med. 2018 Mar;15(2):79-86. doi: 10.2217/pme-2017-0053. Epub 2018 Jan 30.

Abstract

Aim: The aim of this study is to identify the AKT1 gene mutation driven pathogenicity in gastric cancer for Mizo population.

Methods: 50 diffuse-type gastric tumors were analyzed for AKT1 exon 2 and 14 mutations. Cell-cycle aberration was analyzed in the AKT1-mutated samples and the stability of the protein as well as exonic splicing enhancer motifs were examined.

Results: The novel mutations, 15553T >A and 25376C >G might affect the exonic splicing enhancers and silencers. Significant decline was observed in the S-phase population in the tumor cells with 15553T >A and 15579G >C mutations suggesting the arrest of G1 phase.

Conclusion: The present study is a novel finding of the possible role of AKT1 mutations which might help to identify gastric cancer patients.

Keywords: AKT1; cell cycle; exonic splicing enhancers; gastric cancer; pleckstrin homology domain.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Alternative Splicing
  • Cell Cycle / genetics*
  • Exons
  • Female
  • Genetic Predisposition to Disease / genetics
  • Humans
  • India
  • Male
  • Middle Aged
  • Polymorphism, Single Nucleotide / genetics
  • Proto-Oncogene Proteins c-akt / genetics*
  • Proto-Oncogene Proteins c-akt / metabolism
  • RNA Splicing / genetics
  • Risk Factors
  • Stomach Neoplasms / genetics*

Substances

  • AKT1 protein, human
  • Proto-Oncogene Proteins c-akt