Specifying the molecular pattern of sporadic parathyroid tumorigenesis-The Y282D variant of the GCM2 gene

Biomed Pharmacother. 2017 Aug:92:843-848. doi: 10.1016/j.biopha.2017.05.028. Epub 2017 Jun 9.

Abstract

Sporadic carcinoma of the parathyroid glands is a rare malignant neoplasia. The GCM2 gene encodes a transcription factor that is crucial to embryonic parathyroid development. The Y282D variant of GCM2 exhibits increased transcriptional activity, and the presence of this variant is significantly associated with a higher prevalence of primitive hyperparathyroidism. The present study investigated the prevalence of the Y282D variant of the GCM2 gene and its association with clinical parameters in patients with a definitive histological diagnosis of sporadic parathyroid carcinoma (SPC) or atypical adenoma (AA).

MeSH terms

  • Base Sequence
  • Carcinogenesis / genetics*
  • Carcinogenesis / pathology
  • Female
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Humans
  • Male
  • Middle Aged
  • Nuclear Proteins / genetics*
  • Parathyroid Neoplasms / genetics*
  • Polymorphism, Single Nucleotide / genetics*
  • Transcription Factors / genetics*

Substances

  • GCM2 protein, human
  • Nuclear Proteins
  • Transcription Factors