|
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.[1] It is caused by germline mutations in DNA polymerase ε (POLE) and δ (POLD1).[1] 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] GeneticsPPAP is an autosomal dominant syndrome caused by germline mutations in DNA polymerase ε (POLE) and δ (POLD1).[1] The penetrance of the condition appears high.[3] References
|
||||||||||||||||||||
