Re-evaluating the genotypes of patients with adenomatous polyposis of unknown etiology: a nationwide study
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Re-evaluating the genotypes of patients with adenomatous polyposis of unknown etiology : a nationwide study. / Karstensen, John Gásdal; Hansen, Thomas v. Overeem; Burisch, Johan; Djursby, Malene; Højen, Helle; Madsen, Majbritt Busk; Jespersen, Niels; Jelsig, Anne Marie.
I: European Journal of Human Genetics, Bind 32, Nr. 5, 2024, s. 588-592.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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TY - JOUR
T1 - Re-evaluating the genotypes of patients with adenomatous polyposis of unknown etiology
T2 - a nationwide study
AU - Karstensen, John Gásdal
AU - Hansen, Thomas v. Overeem
AU - Burisch, Johan
AU - Djursby, Malene
AU - Højen, Helle
AU - Madsen, Majbritt Busk
AU - Jespersen, Niels
AU - Jelsig, Anne Marie
N1 - Publisher Copyright: © The Author(s) 2024.
PY - 2024
Y1 - 2024
N2 - 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.
AB - 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.
U2 - 10.1038/s41431-024-01585-z
DO - 10.1038/s41431-024-01585-z
M3 - Journal article
C2 - 38467732
AN - SCOPUS:85187436299
VL - 32
SP - 588
EP - 592
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
SN - 1018-4813
IS - 5
ER -
ID: 385687554