Tier models

pcgr_acmg

This tier model attempts to adopt concensus recommendations by ACMG, as outlined in Li et al., 2017:

• Tier 1: Variants of strong clinical significance - constitutes variants linked to predictive, prognostic, or diagnostic biomarkers in the CIViC database and the Cancer Biomarkers Database that are
  • A: found within the same tumor type/class as specified by the user, AND
  • B: of strong clinical evidence (i.e. part of guidelines, validated or discovered in late clinical trials)
• Tier 2: Variants of potential clinical significance - constitutes other variants linked to predictive, prognostic, or diagnostic biomarkers in the CIViC database and the Cancer Biomarkers Database that are either
  • A: of strong clinical evidence in other tumor types/classes than the one specified by the user, OR
  • B: of weak clinical evidence (early trials, case reports etc.) in the same tumor type/class as specified by the user
• Tier 3: Variants of uncertain clinical significance - includes other coding variants found in oncogenes or tumor suppressor genes
• Tier 4 - includes other coding variants

For copy number aberrations, aberrations linked to Tier 1 & 2 are displayed, within following sections in the HTML report:

• Copy number aberrations as biomarkers: Aberrations of strong clinical significance (Tier 1)
• Copy number aberrations as biomarkers: Aberrations of potential clinical significance (Tier 2)