Polymerase proofreading-associated polyposis

Definition:

Polymerase proofreading-associated polyposis (PPAP) is an autosomal dominant cancer syndrome caused by germline variants in the exonuclease domains of POLD1 and POLE. PPAP is characterized by oligo adenomatous polyposis and increased risk of colorectal cancer, endometrial cancer and brain tumors.

References:

[1]. Claire Palles, et al. The clinical features of polymerase proof-reading associated polyposis (PPAP) and recommendations for patient management. Fam Cancer. 2022 Apr;21(2):197-209. [Content Brief]

[2]. Fernando Bellido, et al. POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance. Genet Med. 2016 Apr;18(4):325-32. [Content Brief]

[3]. Nadim Hamzaoui, et al. Genetic, structural, and functional characterization of POLE polymerase proofreading variants allows cancer risk prediction. Genet Med. 2020 Sep;22(9):1533-1541. [Content Brief]

[4]. Tetsuya Ito, et al. The first case report of polymerase proofreading-associated polyposis in POLD1 variant, c.1433G>A p.S478N, in Japan. Jpn J Clin Oncol. 2020 Sep 5;50(9):1080-1083. [Content Brief]

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