Extended Data Fig. 8: Associations between genic mutations and global burden of clustered mutations. | Nature Genetics

Extended Data Fig. 8: Associations between genic mutations and global burden of clustered mutations.

From: DNA mismatch repair promotes APOBEC3-mediated diffuse hypermutation in human cancers

Extended Data Fig. 8

a, Associations between A3-context TCW>K mutations in coding regions of each cancer gene, and the global burden of A3 kataegis (top left) or omikli (middle left) and their interaction term (bottom left). Right panel is same as middle-left panel, but showing only the significant genes, with labels. Volcano plots show logistic regression coefficients (transformed to odds ratio) on the x axis and the log FDR on the y axis. Genes that bore coding mutations in at least three tumor samples were tested. b, Number of TCW sites in a gene coding sequence (CDS; x axis) predicts the association of cancer gene mutations (y axis) with A3 omikli burden (bottom) but not with A3 kataegis burden (top). Error bands are 95% C.I. of the linear fit. c, Same association analysis as panel a but for the control, non-A3 context VCN>K mutations in the gene CDS. d, Early RT cancer genes are more affected by A3 mutagenesis. Cancer genes were stratified into RT quartiles (x axis) and logistic regression coefficient (log odds ratio, y axis) linking A3 omikli burden with the presence of a mutation in the CDS of any cancer gene in that RT bin was determined. Error bars are 95% C.I. from logistic regression (on n=593 tumor samples).

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