Polymerase proofreading-associated polyposis
Definition:
References:
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[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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