Re-evaluating the genotypes of patients with adenomatous polyposis of unknown etiology: a nationwide study.
Eur J Hum Genet
; 32(5): 588-592, 2024 May.
Article
em En
| MEDLINE
| ID: mdl-38467732
ABSTRACT
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Polipose Adenomatosa do Colo
/
Proteína da Polipose Adenomatosa do Colo
Limite:
Adult
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Female
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Humans
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Male
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Middle aged
País como assunto:
Europa
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article