Fig. 1
From: Homologous recombination DNA repair defects in PALB2-associated breast cancers
Non-synonymous somatic mutations in PALB2-associated breast cancers. Heatmap depicting the somatic genetic alterations identified in the 24 PALB2-associated breast cancers analyzed by whole-exome (n = 16) or targeted MSK-IMPACT (n = 8) massively parallel sequencing. Somatic mutations affecting the 410 cancer genes present in MSK-IMPACT, in decreasing overall mutational frequency observed in PALB2-associated breast cancers are plotted. Cases are shown in columns, and genes in rows. Estrogen receptor (ER) and HER2 status, PALB2 germline mutation type, presence of a second somatic PALB2 mutation or loss of heterozygosity (LOH) of the PALB2 wild-type allele, large-scale state transition (LST) score, dominant mutational signature and sequencing platform are indicated in the phenobar (top), color-coded according to the legend. Note that mutational signatures and LST scores could not be assessed in tumors subjected to MSK-IMPACT sequencing due to the limited number of mutations present. Clonal somatic PALB2 mutations or clonal LOH of the PALB2 wild-type allele are indicated by yellow boxes. Somatic mutations are color-coded according to the legend, and LOH of the wild-type allele of mutated genes other than PALB2 is represented by a diagonal bar. Indel small insertion/deletion; LOH loss of heterozygosity, LST large-scale state transition, N/A not assessable, SNV single nucleotide variant, WES whole-exome sequencing
