Fig. 2

Mutational landscape of HLBC-FPO cohort. A Boxplots of TMB values for each HLBC subgroup. Dots are color-coded according to the intrinsic molecular subtype. One case (HLBC-1-17) harbored high TMB (42.52) and MSI (40%). Out of 34 HLBC-1 cases, four showed TMB values above 20 and eight between 10 and 20 mut/Mb. Four cases (4%) were wild-type for all the analyzed genes. B VAF distributions across the HER2 subgroups. Each dot represents a mutation. Blue sections divide the plots into 25-percentile VAF ranges. C OncoPrint of the 99 HLBC-FPO tumors subjected to targeted sequencing, reporting the 50 most frequently mutated genes. Gene names and relative frequency of mutations are reported in the double y-axis. Top: the bar graph defining the number of variant/patient for the selected genes; bottom: annotation for tumor grade, IHC class, IHC subtypes, and PAM50 subtypes. D–F OncoPrint of the HLBCs-1, 2E, and 2N showing variants in the 30 most frequently mutated genes. TMB, tumor mutation burden; VAF, variant allele frequency. The legend for all the OncoPrints and annotations is reported in C