Abstract

<p>Supplementary Fig. S4. Mutational signatures and genetic alterations affecting genes in the homologous recombination DNA repair pathway in metaplastic breast cancers (MBCs) and triple-negative invasive carcinomas of no special type (IDC-NSTs). (a) In bar graphs illustrating the mutational signatures, the mutations were grouped by the sequence context (i.e. AxA, AxC, AxG, AxT, CxA, CxC, CxG... TxT, where x is the mutated base), with the different colors indicating the mutation type (i.e. C>A, C>G, C>T, T>A, T>C and T>G). The height of colored bars represents the fraction of mutations attributed in each of the 96 sub-bins. (b) Genetic alterations that would result in the bi-allelic inactivation (i.e. two mutations in the same gene, one mutation associated with loss of heterozygosity or homozygous deletion) of genes known to be involved in homologous recombination DNA repair (see Supplementary Table S6) are color-coded by their effect according to the legend. Genes mutated in at least one MBC or triple-negative IDC-NST are included and are ordered from top to bottom in decreasing order of mutational frequency in MBCs. The presence of loss of heterozygosity of the wild-type allele of a mutated gene is represented by a diagonal bar. Percentages to the right indicate the percentage of cases affected by non-synonymous somatic mutations in a given gene. TCGA, The Cancer Genome Atlas.</p>

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