Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain
the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in
Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles
and JavaScript.
Table 4 Common phenotypic features observed in carriers of pathogenic mutations in the exonuclease domains of POLE and POLD1 reported to date1–4 and in the current study, and clinical suspicion or recommended guidelines for genetic testing