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Article

Re-evaluating the genotypes of patients with adenomatous polyposis of unknown etiology: a nationwide study.

European journal of human genetics : EJHG - 1 May 2024

Karstensen John Gásdal, Hansen Thomas V Overeem, Burisch Johan, Djursby Malene, Højen Helle, Madsen Majbritt Busk, Jespersen Niels, Jelsig Anne Marie

Abstract excerpt

In the Danish Polyposis Register, patients with over 100 cumulative colorectal adenomas of unknown genetic etiology, named in this study colorectal polyposis (CP), is registered and treated as familial adenomatous polyposis (FAP). In this study, we performed genetic analyses, including whole genome sequencing (WGS), of all Danish patients registered with CP and estimated the detection rate of pathogenic variants...

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Identifiers

PMID: 38467732
DOI: 10.1038/s41431-024-01585-z
PMCID: PMC11061120

Genes

CP
APC
FAP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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