FIGURE 7.

Hypermutated patient germline analysis. A, Comparison of trinucleotide sequence contexts of COSMIC signature 6 and HL-513 suggesting a high degree of similarity between the two. B, Summary of the MMR germline mutations identified in HL-513. C, Lolliplot of MSH6 with Lynch syndrome mutations from ClinVar and the HL-513 mutation identified here. ClinVar mutations annotated as pathogenic and associated with Lynch syndrome are shown. The shaded oval highlights the duplication identified in HL-513. Note: mutations are plotted by ProteinPaint (103) according to (left-shifted) genomic coordinates but labeled with their HGVS expressions (right-shifted) from ClinVar explaining the discrepancies in some amino acid positions displayed.