Table 3 A draft proposal for the minimal data needed for curation of evidence of a clinically actionable genomic event: evidence types and levels
From: Organizing knowledge to enable personalization of medicine in cancer
Evidence property | Evidence sub-property | Description | Example |
|---|---|---|---|
Type of evidence | Predictive | Genomic alteration is predictive of response to therapy | Breast cancer cell lines with H1047R mutation showed increased sensitivity to CH5132799 compared to cells with wild-type PIK3CA gene |
| Â | Diagnostic | Genomic alteration is diagnostic for disease or subtype | DNAJB1:PRKACA fusions are very strongly associated with the fibrolamellar variant of liver cancer |
| Â | Prognostic | Genomic alteration is prognostic for disease outcome | The presence of KRAS mutations in acute myelogenous leukemia is associated with shorter survival time |
Level of evidence | A - validated association | Proven/consensus association in human medicine | A meta-analysis of clinical studies showed that harboring a BRAF V600E mutation predicts worse prognosis in patients with colorectal cancer |
| Â | B - clinical evidence | Clinical trial or other primary patient data supports association | In non-small-cell lung cancer patients with EGFR T790M and other activating mutations, their progression-free survival is shorter than those who do not have T790M mutations |
| Â | C - preclinical evidence | In vivo or in vitro models support association | Experiments showed that AG1296 is effective in triggering apoptosis in cells with the FLT3 internal tandem repeat |
| Â | D - inferential association | Indirect evidence | Glioma cells harboring IDH1 mutation may be more susceptible to chemotherapy or radiotherapy due to their reduced ability to respond to oxidative stress |