Polymerase proofreading-associated polyposis

Polymerase proofreading-associated polyposis
Polymerase proofreading-associated polyposis
Other names	PPAP
Specialty	Medical genetics, gastroenterology
Symptoms	Asymptomatic, often develop multiple colorectal adenomas
Complications	Colorectal, duodenal, & endometrial cancer
Diagnostic method	Colonoscopy
Differential diagnosis	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).[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]

Genetics

PPAP 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

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.

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[Church-1] 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-2] 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-3] 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.