Fig. 5
From: Homologous recombination DNA repair defects in PALB2-associated breast cancers
Comparison of PALB2-associated breast cancers and BRCA1 and BRCA2 breast cancers. a, b Heatmap depicting the most recurrently mutated genes affecting 410 cancer genes identified in PALB2-associated breast cancers and BRCA1 and BRCA2 breast cancers from TCGA.19 Cases are shown in columns, and genes in rows. Multi-Fisher’s exact test comparisons of mutational frequencies of the recurrently mutated genes were performed between a the 16 PALB2-associated breast cancers with bi-allelic PALB2 alterations and 17 BRCA1 breast cancers bi-allelic BRCA1 alterations, and b the 16 PALB2-associated breast cancers with bi-allelic PALB2 alterations and 16 BRCA2 breast cancers with bi-allelic BRCA2 alterations. P-value of each comparison is shown on the right side of the heatmap, with statistically significant P-values in bold. Indel, small insertion/deletion; SNV, single nucleotide variant. c Boxplots showing the large-scale state transition (LST) scores of the 12 PALB2-associated breast cancers with bi-allelic PALB2 alterations, 17 BRCA1 and 16 BRCA2 breast cancers with bi-allelic BRCA1 and BRCA2 alterations, respectively. The median value of the LST scores, and the 75th and 25th percentiles are displayed at the top and bottom of the boxes, respectively. Each dot corresponds to the LST score and/or mutational signature of one case. Mutational signatures are color-coded according to the legend. P-values of the comparisons of LST scores are shown using Fisher’s exact tests. N/A signatures not assessable, LST large-scale state transition
