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Fig. 2 | Genome Medicine

Fig. 2

From: Genomic landscape of colorectal cancer in Japan: clinical implications of comprehensive genomic sequencing for precision medicine

Fig. 2

Mutation rates in Japanese and US CRC patients. Mutation rates from Japanese patients (a) and US patients (b) were determined by the number of non-synonymous SNVs in the 415-gene panel. Hypermutated and non-hypermutated cancers separated by the dashed line. Red, MMR-deficient; gray, MMR-intact; white, no data. c Data from TCGA CRC cases (green) were downsampled to the content of the 415-gene CGS platform (blue; non-synonymous SNPs). Correlation between mutation rates determined by CGS and WES (insert). d ROC analysis using the 415-gene CGS platform, WES, and random sets of 400, 300, 200, 100, and 50 genes as predictors of hypermutated samples (TCGA dataset). e Aggregated mutational signature profiles for hypermutated (top) and non-hypermutated cases (bottom). The pie charts represent inferred contribution of COSMIC signatures to corresponding profiles. f Mutations in BRAF for Japanese patients (n = 201), US patients (n = 108), and TCGA samples (n = 224) were aligned to protein domains. The number of mutations at each given amino acid were plotted in corresponding pie graphs. As shown, BRAF V600E was the highest frequency mutations in each protein. Patient samples were further plotted by mutation status: (g) BRAF-hypermutated, (h) BRAF-non-hypermutated

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