Mutational signatures of triple-negative breast cancer (TNBC).

<p>(<b>A</b>) Three trinucleotide mutational signatures of single nucleotide variations (SNVs) in whole genome sequencing (WGS) data. (<b>B</b>) Numbers of structural variants (SVs), SNVs, and indels in each tumor (middle panel) in association with <i>RAD51C</i> and <i>BRCA1</i> mRNA expression levels (left panel) and distributions of the distance between breakpoints (right panel). Data are arranged in descending order of <i>BRCA</i> signature ratios among SNVs. SNV bars contain both truncal and subclonal SNVs. IDs for samples with a defective homologous recombination (HR) pathway are highlighted in red. <i>BRCA1</i> mRNA expression levels in tumors with <i>BRCA1</i> mutation are shown in gray. Transloc., translocation; Tandem., tandem duplication; Inv., inverted rearrangement; Del., deletion; FPKM, fragments per kilobase of transcript per million mapped reads. (<b>C</b>) Proportions of tandem duplications among all SVs. Green, <i>BRCA1</i> silenced or mutated; red, <i>RAD51C</i> silenced; yellow, others. The outlier in the <i>BRCA1</i> intact group is from TN-27 in which only six SVs were detected.