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Uncommon GNAQ, MMP8, AKT3, EGFR, and PIK3R1 mutations in thyroid cancers

Avaniyapuram Kannan Murugan1, Jianli Dong, Jingwu Xie

  • 1Laboratory for Cellular and Molecular Thyroid Research, Division of Endocrinology and Metabolism, The Johns Hopkins University School of Medicine, 1830, East Monument Street, Suite 333, Baltimore, MD 21287, USA.

Endocrine Pathology
|April 14, 2011
PubMed

Insights

Mutations in GNAQ, MMP8, AKT3, EGFR, and PIK3R1 genes are uncommon in thyroid cancer. A single EGFR mutation was found in papillary thyroid cancer, and a common SNP was observed in MMP8.

Area of Science:

  • Oncology
  • Genetics
  • Molecular Biology

Background:

  • Mutations in GNAQ, MMP8, AKT3, EGFR, and PIK3R1 are prevalent in various human cancers.
  • These genes have not been extensively studied in the context of thyroid cancer.

Purpose of the Study:

  • To investigate the frequency of mutations in GNAQ, MMP8, AKT3, EGFR, and PIK3R1 genes in thyroid cancer.
  • To determine if these genes are potential targets for thyroid cancer therapy.

Main Methods:

  • Sequencing of selected exons from GNAQ, MMP8, AKT3, EGFR, and PIK3R1 genes.
  • Analysis of DNA from various thyroid cancer samples and thyroid cancer cell lines.

Main Results:

  • A single G2203A (G735S) mutation in the EGFR gene was identified in 5% of papillary thyroid cancer samples.
  • No mutations were found in GNAQ, AKT3, and PIK3R1 genes across all thyroid cancer samples and cell lines.
  • A frequent single nucleotide polymorphism (SNP) A259G (K87E) genotype switch was observed in the MMP8 gene in various thyroid cancer types, but no mutations were detected.

Conclusions:

  • Mutations in GNAQ, MMP8, AKT3, EGFR, and PIK3R1 are infrequent in thyroid cancer, unlike their common occurrence in other cancer types.
  • The identified EGFR mutation and MMP8 SNP warrant further investigation for their potential role in thyroid cancer development and progression.

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