Molecular characteristics

  • Most CCND2 mutations identified to date are de novo. However, mosaic mutations have been rarely identified.
  • CCND2 mutations are hypothesized to be associated with Gain of Function (GOF) of PI3K-AKT-MTOR pathway activity
  • The mutational spectrum of CCND2 mutations is narrow with most identified mutations involving the most terminal exon of the gene.