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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
  Diagnostic Genomic alteration is diagnostic for disease or subtype DNAJB1:PRKACA fusions are very strongly associated with the fibrolamellar variant of liver cancer
  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
  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
  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
  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
  1. Note: The schema for evidence types and levels was inspired by Van Allen et al.[11].