Figure 2.
Relevant variants at diagnosis in CP for patients treated with first-line TKIs. (A) Variants at diagnosis and overlap of variant type per patient at diagnosis. The average Combined Annotation Dependent Depletion score of the SNVs and indels was 32 (range [r], 22-44), indicating they were predicted to be deleterious. All relevant SNVs were predicted to be damaging by at least 3 of 4 in silico prediction tools. For the Venn diagrams, patients with >1 variant within a category (eg, 2 SNVs) were only counted once for that category. SNVs and indels were detected by WES and/or RNA-Seq. Fusions represent fusion transcripts detected by RNA-Seq and genomic fusions where breakpoints were detected by RNA-Seq or WES, including focal deletions. CNVs were detected from the WES data. All variants that met the criteria for classification for clinical relevance or possible relevance were included. (B) Graphs show characteristics of variants that occurred in ≥3 patients. The median month and r of subsequent BC was calculated for patients with any 1 of the variants. Ph, Philadelphia.