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Fig. 5 | Genome Biology

Fig. 5

From: Functional and genetic determinants of mutation rate variability in regulatory elements of cancer genomes

Fig. 5

Recurrent driver mutations and copy-number alterations (CNA) associate with localised mutagenesis. a Dotplot of the statistical interactions of recurrent mutations with increased mutation frequencies at sites (RM2 FDR < 0.05: interaction P < 0.05). Whole-genome duplication (WGD) and CNA burden (median-dichotomised percent genome altered, PGA) are also shown. b–d Examples of increased mutation frequency associating with recurrent driver mutations and CNAs. Tumours with and without recurrent mutations are shown (left vs right). b ARID1A mutations in pancreatic cancer associate with enriched mutations at TSSs. c BRAF mutations in melanoma associate with enriched mutations at CTCF binding sites. d 17q23.1 amplifications associate with enriched mutations at CTCF binding sites in breast and pancreatic cancer. e Copy-number amplified genes with amplification-driven increases in mRNA abundance. Known cancer genes are shown at the top. f RAD21 is upregulated in the set of 8q23.3-amplified breast cancers associated with enriched mutations in CTCF binding sites. g BRAF is upregulated in the set of 7q34-amplified breast cancers associated with enriched mutations in TSSs

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