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. 2020 Jun 12;6:24. doi: 10.1038/s41523-020-0165-z

Fig. 5. Mutational processes and somatic copy number variation (CNV) identified in the case and control groups.

Fig. 5

a The identified mutation signatures were compared with those of the Welcome Trust Sanger Institute. The aging signature and mismatch repair signature (MMR) are enriched in both groups. The uncatalogued signature O/TN is enriched with T > G/A > C mutations, with 5′GAA3′ > 5′GCA3′ the most frequently mutated trinucleotide. b Recurrent somatic copy number variation in the case group. Common fragile sites are labeled. The size of the dots represents the q-value (FDR adjusted p-value). Red are amplifications, blue are deletions. y-axis is the number of genes involved, and x-axis is the number of samples involved. c The uncatalogued signature is enriched in BBBs that predate triple negative breast cancer. Each sample is assigned a continuous number representing the signature exposure strength, which was the product of matrix decomposition. d The mismatch repair signature is highly abundant in the BBB with MLH3 deletion (MLH3 naive). Error bars are 95% confidence interval (CI).