Table 1 Literature guided selection of tumour hotspots
Gene | Exon | Location | Function |
|---|---|---|---|
TP53 | 4 | DNA binding domain | Bind specific DNA sequences and integrate many cellular signals via protein–protein interactions to initiate the required cellular response |
PIK3CA | 9 | Helical domain | It plays a role in unwinding the DNA double helix during DNA replication and repair |
PIK3CA | 20 | Kinase domain | Responsible for the phosphorylation of phosphatidylinositol-4,5-bisphosphate (PIP2) into phosphatidylinositol-3,4,5-trisphosphate (PIP3) |
PTEN | 5 | Phosphatase domain | It plays a role in PTEN's enzymatic activity as a phosphatase which metabolizes PIP3 to PIP2 in PI3K/AKT/mTOR pathway |
EGFR | 19 and 20 | Tyrosine domain | Plays a role in activating signaling pathways promoting proliferation |