Fig. 3.

Prevalence of altered genes.a Heatmap of mutated genes in each of the 40 patients. Genes with at least one variant are illustrated in color. Genes with at least one likely pathogenic or pathogenic variant are presented in red. Patients were sorted according to the amount of altered genes. Each patient displayed at least one pathogenic or likely pathogenic variant in one of the 17 tested genes and showed at least one MUC16 variant. b Prevalence of altered genes in percentage. Frequency of altered genes (green), frequency of pathogenic or likely pathogenic altered genes (red) and frequency of pathogenic or likely pathogenic alterations within the cohort showing any variant in this gene (pink) are depicted. MUC16, BRCA2, ERBB3 and AR alterations showed a prevalence of > 90%. BRCA2 and AR were the most frequently altered genes with pathogenic or likely pathogenic effect