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. Author manuscript; available in PMC: 2023 Jun 5.
Published in final edited form as: Cancer Res. 2021 Oct 5;81(23):5818–5832. doi: 10.1158/0008-5472.CAN-21-1033

Figure 2.

Figure 2.

Genomic landscape of relapsed and refractory childhood solid tumors. The genomic landscape of likely pathogenic driver mutations in 184 patients with BCC with tumor and matched normal WES. A, Somatic coding mutation burden is shown as a per-patient bar graph. Chromosome arm-level gains or losses, present in atleast 15 patients within the cohort, are displayed. Cancer genes bearing likely pathogenic germline SNVs and somatic SNVs, CNVs, SVs, and fusions are ordered according to general tumor type and frequency. Hotspot activating mutations include ACVR1 (R206H), ALK (F1174L, I1171T, R1275Q), BRAF (V600E), CTNNB1 (D32V), EGFR (exon 20 insertion mutation—A767_V769dup, tandem kinase domain duplication), FBXW7 (R465H), FGFR4 (V550L/E), H3F3A (K27M), HRAS/KRAS/NRAS (G12D, G13C/R, Q61K, A146T), MYCN (P44L), PDGFRA (V561D), PIK3CA (E542K, E545K, H1047R), PIK3R1 (N564D), PPM1D (exon 6 truncating mutation, S421*, E423fs, E525*), and PTPN11 (A72D, G503V, T507K). B, Frequency of gene alterations according to general tumor type. C, Venn diagram indicating intersection of cancer gene mutations across general tumor types.