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Polymerase proofreading-associated polyposis

CRCS10:Palles et al. (2013) reported 2 large multigenerational families with a predisposition for the development of multiple colorectal adenomas and carcinomas between the ages of 26 and 68 years. In addition, 7 patients also developed endometrial carcinoma, and 1 patient had 2 primary brain tumors. All tumors showed microsatellite stability.
CRCS12:Palles et al. (2013) reported a large 3-generation family in which 8 individuals had various manifestations of a colorectal adenoma syndrome with predisposition to colorectal carcinoma. Affected individuals developed multiple adenomas or colorectal cancer as adults, between ages 23 and 61 years. Twelve additional pedigrees with the same disorder were subsequently identified. All showed autosomal dominant inheritance of a predisposition of multiple adenomas and/or colorectal cancer with onset usually before age 40 years. Histologic features of the tumors were unremarkable, but all were microsatellite stable.

• Informasjon om indikasjonen (OMIM nr.: #612591 and #615083)

Synonym(er): PPAP


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