Table 2.
Gene | Chr position | Variant | Oncogenic | Variant in OncoKB; level of evidence | Description |
---|---|---|---|---|---|
TP53 (chr17) | 7675217 7675214 7674894 7673767 7673537 7674230 7675232 7675119 7673740 7676097 7675076 |
p.K132T p.M133T p.R213* p.E285K p.Q331* p.G245S p.S127F p.Q165* p.E294* p.W91* p.H179R |
Likely Oncogenic Likely Oncogenic Likely Oncogenic Likely Oncogenic Likely Oncogenic Oncogenic Likely Oncogenic Likely Oncogenic Likely Oncogenic Likely Oncogenic Likely Oncogenic |
Yes; Level-Px1a Yes; Level-Px1 No; Level-Px1 Yes; Level-Px1 No; Level-Px1 Yes; Level_Px1 Yes; Level_Px1 No; Level_Px1 No; Level_Px1 No; Level_Px1 Yes; Level_Px1 |
Identified in glioblastoma58
Unregulated inflammatory response studied in breast cancer59 Truncating mutation and promote cancer cell proliferation62 Expression in yeast and human cancer cells is associated with loss of function61 Truncating mutation and its alterations are predicted to be inactivating and are associated with poor prognosis. This mutation in cell lines that lack TP53 expression did not enhance the TP53-mediated transcriptional activity62 Mutation is identified in xeroderma pigmentosum and is statically significant hotspot63 Truncating mutation and its alterations are predicted to be inactivating and are associated with poor prognosis63 Truncating mutation and its alterations are predicted to be inactivating and are associated with poor prognosis63 Expression of this mutation failed to induce expression of genes involved in apoptosis and cell cycle arrest60 |
FDA and /or professional guideline-recognized biomarker prognostic in this indication based on a well powered study/studies.