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Fig. 2 | Genome Medicine

Fig. 2

From: Multilevel genomics of colorectal cancers with microsatellite instability—clinical impact of JAK1 mutations and consensus molecular subtype 1

Fig. 2

Somatic exonic mutation profiles of 33 MSI+ CRCs. a The total number of amino acid-changing mutations per tumor ranged from 957 to 4614 (median 1676). The tumors are sorted by mutation load. b The MSI score, calculated as the percentage of somatically unstable microsatellites in the exome of each tumor (microsatellites with indels), was more strongly associated with the number of indels than substitutions (Spearman correlations 0.7 and 0.4, respectively). c MLH1 promoter hypermethylation and BRAF V600E mutations were found in 28 (85%) and 21 (64%) of the tumors, respectively. There was no difference in the MSI score between tumors with and without MLH1 methylation. d Collection across all 33 tumors of substitutions in each of six categories (indicated in the top panel), classified according to sequence context (flanking nucleotides are indicated on the horizontal axis). The mutation distribution corresponds to mutation signature 6, as designated in COSMIC, which is associated with defective MMR

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Genome Medicine

ISSN: 1756-994X

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