POLD1 and neoplastic syndrome: Notably, two clinical conditions regarding the cancer-predisposing nature of the POLD1 mutation have been mentioned in the literature: the first, defined as polymerase proofreading-associated polyposis [11] and the second, the recently described POLE/POLD1-associated tumor syndrome, which have expanded the spectrum of possible tumors affecting people with inherited DNA polymerase-related mutations [12].