Figure 3: Significant mutational heterogeneity and overlap exists between AK and cuSCC. | Nature Communications

Figure 3: Significant mutational heterogeneity and overlap exists between AK and cuSCC.

From: Cross-species identification of genomic drivers of squamous cell carcinoma development across preneoplastic intermediates

Figure 3

(a) Histograms of variant allele frequencies in NS, AK and cuSCC, show that NS have a large number of low-frequency variants. AK and cuSCC have a more heterogeneous distribution of variant frequencies, with higher-frequency variants, indicative of a general towards the emergence of dominant clones. Outliers with high frequencies of mutations in the NS and AK groups (labelled by patient #) are annotated with mutation frequencies in parentheses to show how these frequencies correlate with increasing monoclonality. (b) Point mutations in TP53 compared with overall mutation counts and site-specific ovelaps. Specific mutations are indicated in text, size of the circle indicates the total number of mutations of that sample, with overlaps >1 shown between lesions. R248 is the only amino acid changed in multiple samples within patients 1, 4. Notes regarding specific findings: 1: complex variant at R248/9 hotspot; 2: splice-site variant, 3: appears in both SCC-1 and SCC-2, 4: base change differs between AK and SCC-1 (c.GG741AA in AK, and c.C742T in SCC-1).

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