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

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...

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Bibliographic Details
Published in:European journal of human genetics : EJHG 2024-05, Vol.32 (5), p.588-592
Main Authors: Karstensen, John Gásdal, Hansen, Thomas V Overeem, Burisch, Johan, Djursby, Malene, Højen, Helle, Madsen, Majbritt Busk, Jespersen, Niels, Jelsig, Anne Marie
Format: Article
Language:English
Subjects:
Adenoma
Adenomatous Polyposis Coli - genetics
Adenomatous Polyposis Coli Protein - genetics
Adult
Brief Communication
Colorectal cancer
Denmark
Etiology
Familial adenomatous polyposis
Female
Genetic analysis
Genetic Testing - methods
Genomes
Genotype
Genotypes
Humans
Male
Middle Aged
Mosaicism
Next-generation sequencing
Registries
Tumors
Whole genome sequencing
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Summary: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 (PV). We identified 231 families in the Polyposis Register, 31 of which had CP. A polyposis-associated gene panel was performed and, if negative, patients were offered WGS and screening for mosaicism in blood and/or adenomas. Next-generation sequencing (NGS) was carried out for 27 of the families (four declined). PVs were detected in 11 families, and WGS revealed three additional structural variants in APC. Mosaicism of a PV in APC was detected in two families. As the variant detection rate of eligible families was 60%, 93% of families in the register now have a known genetic etiology.
ISSN:1018-4813
1476-5438
1476-5438
DOI:10.1038/s41431-024-01585-z