Supplementary Figure 11: Suggested model for the mutation signature of bMMRD malignant cancers. | Nature Genetics

Supplementary Figure 11: Suggested model for the mutation signature of bMMRD malignant cancers.

From: Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers

Supplementary Figure 11

A multilayer defense for protecting genome stability prevents replication errors in most individuals. An inherited mismatch repair defect leads to the gradual accumulation of mutations and, thus, to increased cancer risk during adulthood. However, the addition of impaired POLE or POLD1 DNA polymerases results in an extremely rapid accumulation of mutations and onset of cancer in young children.

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