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

From: POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance