Figure 1

Overview of the genomic alterations in breast cancer patients in the TCGA and GENIE cohort (a) Bar graph maps depicting the percentage of cases with mutations obtained from WES (TCGA dataset) versus targeted gene panel (combined data of PCR and hybridization capture, GENIE dataset) approach in 40 actionable genes in ILC and IDC subtypes. (b) Bar graph maps depicting the percentage of cases having mutational hotspots obtained from WES (TCGA dataset) versus PCR and hybridization capture (GENIE dataset) in ILC and IDC subtypes (c) Bar graph maps depicting the percentage of cases with CNAs obtained from the SNP-based array (TCGA dataset) versus targeted gene panel (hybridization capture, GENIE dataset) approach in 40 actionable genes in ILC and IDC tumors. (d) Percentage of mutations in 40 actionable genes in TCGA and GENIE ILC patient samples analyzed by WES versus PCR and hybridization capture technique. PIK3CA dominated the mutational landscape in both data sets and missense mutations (i.e. nontruncating) were more prevalent than truncating and inframe mutations. The inset shows the variation in the percentages of missense, truncating and inframe mutations in the TCGA and GENIE cohort in ILC subtype. (e) Percentage of mutations in 40 actionable genes in TCGA and GENIE IDC patients. TP53 was the most commonly mutated gene in TCGA and GENIE IDC patients. The inset shows the variation in the percentages of missense, truncating and inframe mutations in the TCGA and GENIE cohort in IDC tumors. In both cohorts, missense mutations were more prevalent than truncating and inframe mutations in both ILC and IDC tumors (Kruskal-Wallis test, ****p < 0.0001).