Mutational analyses of the BRAF, KRAS, and PIK3CA genes in oral squamous cell carcinoma

Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2010 Nov;110(5):632-7. doi: 10.1016/j.tripleo.2010.05.002. Epub 2010 Sep 1.

Abstract

Objectives: The development of oral squamous cell carcinoma (OSCC) is a complex, multistep process. To date, numerous oncogenes and tumor-suppressor genes have been implicated in oral carcinogenesis. Of particular interest in this regard are genes involved in cell cycling and apoptosis, such BRAF, KRAS, and PIK3CA genes.

Study design: Mutations of BRAF, KRAS, and PIK3CA were evaluated by direct genomic sequencing of exons 1 of KRAS, 11 and 15 of BRAF, and 9 and 20 of PIK3CA in OSCC specimens.

Results: Both BRAF and KRAS mutations were detected with a mutation frequency of 2% (1/42). PIK3CA mutations were detected at 3% (1/35).

Conclusions: This is the first report implicating BRAF mutation in OSCC. Our study supports that mutations in the BRAF, KRAS, and PIK3CA genes make at least a minor contribution to OSCC tumorigenesis, and pathway-specific therapies targeting these 2 pathways should be considered for OSCC in a subset of patients with these mutations.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Apoptosis / genetics
  • Biomarkers, Tumor / genetics
  • Carcinoma, Squamous Cell / genetics*
  • Cell Cycle / genetics
  • Class I Phosphatidylinositol 3-Kinases
  • Cohort Studies
  • DNA Mutational Analysis
  • Exons / genetics
  • Female
  • Gene Amplification
  • Gingival Neoplasms / genetics
  • Humans
  • Male
  • Mandibular Neoplasms / genetics
  • Maxillary Neoplasms / genetics
  • Middle Aged
  • Mouth Neoplasms / genetics*
  • Mutation / genetics*
  • Phosphatidylinositol 3-Kinases / genetics*
  • Polymerase Chain Reaction
  • Proto-Oncogene Proteins / genetics*
  • Proto-Oncogene Proteins B-raf / genetics*
  • Proto-Oncogene Proteins p21(ras)
  • Sequence Analysis, DNA
  • Tongue Neoplasms / genetics
  • ras Proteins / genetics*

Substances

  • Biomarkers, Tumor
  • KRAS protein, human
  • Proto-Oncogene Proteins
  • Phosphatidylinositol 3-Kinases
  • Class I Phosphatidylinositol 3-Kinases
  • PIK3CA protein, human
  • BRAF protein, human
  • Proto-Oncogene Proteins B-raf
  • Proto-Oncogene Proteins p21(ras)
  • ras Proteins