| Polymerase proofreading-associated polyposis | |
| Synonyms: | PPAP |
| Field: | Medical genetics, gastroenterology |
| Symptoms: | Asymptomatic, often develop multiple colorectal adenomas |
| Complications: | Colorectal, duodenal, & endometrial cancer |
| Diagnosis: | Colonoscopy |
| Differential: | Familial adenomatous polyposis, MUTYH-associated polyposis |
| Treatment: | Colonoscopy Polypectomy |
| Frequency: | Rare |
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.[1] 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.[2]
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.[3]