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Fig. 1 | Human Genomics

Fig. 1

From: Forward and reverse mutations in stages of cancer development

Fig. 1

SNV mutations in B-N-P-T tetra samples. a Genotypic changes at N-, P-, or T-stage of the samples. The numbers of genotypic changes in N-, P-, or T-stage sequences relative to B-stage sequences are represented by ΔNB, ΔPB, and ΔTB, respectively. LOH represents the sum of LOH-M and LOH-m changes. The 12 B-N-P-T cases consisted of 4 breast carcinomas (BRCA), 5 stomach adenocarcinomas (STAD), and 3 hepatocellular carcinomas (LIHC) analyzed using AluScan sequencing (Additional file 1: Table S1). b Patch diagrams tracing SNVs between the B-, N-, P-, and T-samples originating from MM, mm, or Mm genotypes in B-samples. Mutation rate is indicated below each LOH step (L1, L2, etc.) or GOH step (G1, G2, etc.). c Micrographs of N-stage tissue (left), P-stage tissue (middle), and T-stage tissue (right) in one of the representative BRCA B-N-P-T tetra samples. Magnification in each instance was × 400. d Mutational profiles for the ∆NB, ∆PN, and ∆TP SNV changes as numerically indicated in the patch diagrams in part b. The profiles are separated into the C>A, C>G, C>T, T>A, T>C, and T>G types, where C>A includes both the C-to-A and the complementary G-to-T mutations, etc. Within each type, the 16 possible kinds of sequence contexts are indicated on an expanded scale on the x-axis, and the total number of SNVs observed for each kind of trinucleotide sequence contexts is represented by a vertical bar. In each vertical bar in the ∆NB tier, the solid segment represents the SNVs that were reversed in the next ∆PN tier, e.g., C>T GOHs being reversed by T>C LOHs, whereas the open segment represents the unreversed SNVs. Subgroups of contexts are compartmentalized by vertical dashed lines. M, major allele; m, minor allele; GOH-M, MM-to-Mm mutation; GOH-m, mm-to-Mm mutation; LOH-M, Mm-to-MM mutation; LOH-m, Mm-to-mm mutation

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