Fig. 3: Repertoire of non-synonymous somatic mutations identified in metaplastic breast cancers.
From: TERT promoter hotspot mutations and gene amplification in metaplastic breast cancer
a Comparison of the most frequent genetic alterations affecting cancer genes identified in metaplastic breast cancers harboring TERT genetic alterations (TERT promoter hotspot mutations, n = 5; TERT gene amplification, n = 1; left) and TERT wild-type (n = 38, right), by whole-exome sequencing or MSK-IMPACT targeted sequencing. Cases are shown in columns and genes in rows. Clinicopathologic characteristics are shown on the top. Mutations are color coded according to the legend. Frequency plots and Fisher’s exact test comparison corrected for multiple testing of (b) copy number gains and losses, and (c) amplifications and homozygous deletions between TERT altered (n = 6) and TERT promoter wild-type (n = 38) MBCs. Frequency (y-axis) of gains and losses and amplifications and homozygous deletions is shown for each genomic region (x-axis). Inverse Log10 values of the two-sided Fisher’s exact test p-values are plotted according to the genomic region (lower panel). Gains and amplifications are colored in green. Losses and homozygous deletions are colored in purple. *Statistical significance was evaluated by the Fisher’s exact test (p < 0.05). **Mutual exclusivity analysis was performed using combinations of mutually exclusive alterations (CoMEt, p < 0.01). HRD, homologous recombination DNA repair defect; SNV, single nucleotide variants.
