polymerase proofreading-associated polyposis polymerase proofreading-associated polyposis polymerase proofreading-associated polyposis (ppap) is an autosomal dominant hereditary cancer syndrome, which is characterized by numerous polyps in the colon and an increased risk of colorectal cancer. it is caused by germline mutations in dna polymerase ε (pole) and δ (pold1). affected individuals develop numerous polyps called colorectal adenomas. compared with other polyposis syndromes, polymerase proofreading-associated polyposis is rare. genetic testing can help exclude similar syndromes, such as familial adenomatous polyposis and mutyh-associated polyposis. endometrial cancer, duodenal polyps and duodenal cancer may also occur. polymerase proofreading-associated polyposisother namesppapspecialtymedical genetics, gastroenterologysymptomsasymptomatic, often develop multiple colorectal adenomascomplicationscolorectal, duodenal, & endometrial cancerdiagnostic methodcolonoscopydifferential diagnosisfamilial adenomatous polyposis, mutyh-associated polyposistreatmentcolonoscopypolypectomyfrequencyrare genetics ppap is an autosomal dominant syndrome caused by germline mutations in dna polymerase ε (pole) and δ (pold1). the penetrance of the condition appears high.