Fig. 3: Distribution of ESR1 mutations in TMB-high BCs.
From: Genomic characterization of tumor mutational burden-high breast carcinomas
a Schematic truncated representation of the ligand-binding domain of ERα demonstrating the prevalence of ESR1 p.E380Q/K hotspot mutations in TMB-high BCs (top panel) and non-TMB-high BCs (bottom panel). The mutation frequency is represented by the height of each lollipop (y-axis). Green circles: missense or in-frame mutations; Black circles: truncating or splice site mutations. Bar chart (right panel) showing the percentage of ESR1 p.E380Q/K mutations among all ESR1-mutated BCs in each respective cohort. b Pie chart and a bar of pie chart summarizing the prevalence of mutational signatures according to the mutated ESR1 hotspot codon. c Oncoprint depicting co-occurring FOXA1 alterations with ESR1 gain-of-function hotspot mutations. The annotated ESR1 hotspot mutations show the corresponding likely oncogenic FOXA1 mutations, including hotspot missense mutations (n = 4).
