Article
Intestinal and extraintestinal neoplasms in patients with NTHL1 tumor syndrome: a systematic review.
Familial cancer - 1 Oct 2022
Beck S H, Jelsig A M, Yassin H M, Lindberg L J, Wadt K A W, Karstensen J G
Abstract excerpt
Germline biallelic pathogenic variants (PVs) in NTHL1 have since 2015 been associated with the autosomal recessive tumor predisposition syndrome: NTHL1 tumor syndrome or NTHL1-associated polyposis. In this systematic review, we aim to systematically investigate the phenotypic and genotypic spectrum of the condition including occurrence of both benign and malignant tumors. The databases PubMed, EMBASE, and Scopus...
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