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. 2023 Jan 3;19(1):e1010563. doi: 10.1371/journal.pgen.1010563

Fig 1. Repertoire of genomic alterations in primary and metastatic HR+ HER2- breast cancer (BC).

Fig 1

A) Recurrent driver somatic mutations and copy number variations identified in matched primary and metastatic HR+ HER2- BC specimens (n = 74) subjected to targeted sequencing (n = 148). Cases are shown in columns, whereas genes are shown in rows. Mutation types are color-coded according to the legend. The total number of alterations detected in individual genes is displayed on the bar plot (right). For graphical purpose, only the top 25 genes are shown. B) The scatter plot reports the mutational frequencies in matched primary (n = 74) and metastatic (n = 74) tumor samples. Color indicates statistical significance (p-value adjusted by false discovery rate ≤ 0.1), the shape of the points reflects the difference between mutational frequency in metastatic vs. primary tumor samples (triangle = frequency difference ≥ 5%, circle = frequency difference < 5%). Confidence intervals for proportions is reported for significant genes. C) Schematic representation of the protein domains of ESR1, MAP3K1 and MAP3K13 and of the somatic mutations in matched primary and metastatic HR+ HER2- BC specimens (n  =  74). Mutations are color-coded according to the legend, and their overall occurrence is represented on the y-axis.