Medical condition
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] germline mutations in DNA polymerase ε (POLE ) and δ (POLD1 ).[ 1] 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]
Genetics
PPAP is an autosomal dominant syndrome caused by germline mutations in DNA polymerase ε (POLE ) and δ (POLD1 ).[ 1] penetrance of the condition appears high.[ 3]
References
^ a b c Church, JM (March 2014). "Polymerase proofreading-associated polyposis: a new, dominantly inherited syndrome of hereditary colorectal cancer predisposition". Diseases of the Colon and Rectum . 57 (3): 396–7. doi :10.1097/DCR.0000000000000084 . PMID 24509466 . S2CID 9561294 . ^ Tomlinson, Ian (April 2015). "An update on the molecular pathology of the intestinal polyposis syndromes" . Diagnostic Histopathology . 21 (4): 147–151. doi :10.1016/j.mpdhp.2015.04.006 ^ Syngal, S; Brand, RE; Church, JM; Giardiello, FM; Hampel, HL; Burt, RW; American College of, Gastroenterology. (February 2015). "ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes" . The American Journal of Gastroenterology . 110 (2): 223–62, quiz 263. doi :10.1038/ajg.2014.435 . PMC 4695986 PMID 25645574 .
