discussion-presentation40

• HRPT2 — Mutation of the HRPT2 (also called CDC73) tumor suppressor gene has been recognized to play a central role in the molecular pathogenesis of parathyroid carcinoma.
• HRPT2 is located on chromosome 1 and encodes parafibromin, a protein who involve regulation of gene expression and inhibition of cell proliferation.
• Studies have confirmed the presence of HRPT2 mutations in both the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and sporadic parathyroid carcinoma,
  as well as their rare presence in isolated familial hyperparathyroidism.