First estimates of diffuse gastric cancer risks for carriers of
gastroenterology
genetic counseling
genetic predisposition to disease
medical oncology
Journal
Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R
Informations de publication
Date de publication:
12 2022
12 2022
Historique:
received:
03
06
2022
accepted:
02
08
2022
pubmed:
30
8
2022
medline:
25
11
2022
entrez:
29
8
2022
Statut:
ppublish
Résumé
Pathogenic variants (PV) of Data from published CTNNA1 families were updated and new families were identified through international collaborations. The cumulative risk of DGC by age for PV carriers was estimated with the genotype restricted likelihood (GRL) method, taking into account non-genotyped individuals and conditioning on all observed phenotypes and genotypes of the index case to obtain unbiased estimates. A non-parametric (NP) and the Weibull functions were used to model the shape of penetrance function with the GRL. Kaplan-Meier incidence curve and standardised incidence ratios were also computed. A 'leave-one-out' strategy was used to evaluate estimate uncertainty. Thirteen families with 46 carriers of PV were included. The cumulative risks of DGC at 80 years for carriers of This is the largest series of
Sections du résumé
BACKGROUND
Pathogenic variants (PV) of
METHODS
Data from published CTNNA1 families were updated and new families were identified through international collaborations. The cumulative risk of DGC by age for PV carriers was estimated with the genotype restricted likelihood (GRL) method, taking into account non-genotyped individuals and conditioning on all observed phenotypes and genotypes of the index case to obtain unbiased estimates. A non-parametric (NP) and the Weibull functions were used to model the shape of penetrance function with the GRL. Kaplan-Meier incidence curve and standardised incidence ratios were also computed. A 'leave-one-out' strategy was used to evaluate estimate uncertainty.
RESULTS
Thirteen families with 46 carriers of PV were included. The cumulative risks of DGC at 80 years for carriers of
CONCLUSION
This is the largest series of
Identifiants
pubmed: 36038258
pii: jmg-2022-108740
doi: 10.1136/jmg-2022-108740
doi:
Substances chimiques
Cadherins
0
CTNNA1 protein, human
0
alpha Catenin
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1189-1195Informations de copyright
© Author(s) (or their employer(s)) 2022. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.