Figure 1.

Mutations Causing POLE-Associated IMAGe Syndrome Are Distinct from Mutations Conferring a Non-syndromic Susceptibility to Cancer

Schematic of the POLE gene, which encodes POLE1, the catalytic subunit of DNA polymerase epsilon. Domains: Pol, polymerase; Exo, exonuclease. Mutations identified in POLE subjects indicated above gene and protein (green). Recurrent intronic mutation underlined. For comparison, heterozygous germline missense mutations located in the exonuclease domain predisposing to colorectal cancer and other malignancies highlighted below (red).