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Fig. 9 | Human Genomics

Fig. 9

From: Forward and reverse mutations in stages of cancer development

Fig. 9

Mutational features of different stages of cancer development. a stage-specific population (SSP) model of cancer development. b Reversal of N-stage SNVs at P- and T-stages in 12 tetra sample cases of BRCA, STAD, and LIHC. Colored sectors represent N-stage GOHs (red), N-stage LOHs (orange), P-stage reversals of N-stage SNVs (light green), and T-stage reversals of N-stage SNVs (dark green), respectively. σN shows the total number of SNVs occurred at N-stage compared to B-stage cells with relative proportions of GOH and LOH shown by colored sectors. σP and σT show the proportions of N-stage SNVs unreversed and reversed at P-stage and T-stage, as color-coded sectors. c Forward and reverse SNVs in N-, P-, and T-stage samples. Left: N-stage SNVs comprising forward GOHs and LOHs (solid red). Middle: P-stage SNVs comprising forward GOHs and LOHs (solid green) and GOHs and LOHs that reversed N-stage LOHs and GOHs, respectively (striped red). Right: T-stage SNVs comprising forward GOHs and LOHs (solid blue) and GOHs and LOHs that reversed P-stage LOHs and GOHs (striped green) and N-stage LOHs and GOHs (striped red highlighted by arrows), respectively. d Frequently mutated genes in the 12 tetra sample cases. Each mutation found in a BRCA (orange), STAD (green), or LIHC (blue) sample is represented by a square listed with the gene. e Pathway enrichments of mutations in the 12 tetra sample cases. The horizontal bars showing the numbers of mutated genes are arranged from top down in the order of increasing Bonferroni-corrected p values. The percentage of genes in the pathway that displayed one or more forward SNVs at N-, P-, or T-stage is indicated under ∆NB, ∆PB, and ∆TB, respectively. The percentage of N-stage SNVs that were reversed subsequently at P- or T-stage was indicated by (RNB). The percentage of P-stage SNVs that were reversed subsequently at T-stage was indicated by (RPB) (see Fig. 1 for abbreviations)

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