Characterisation of protein-truncating and missense variants in
genetic predisposition to disease
germ-line mutation
Journal
Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R
Informations de publication
Date de publication:
05 2022
05 2022
Historique:
received:
24
09
2020
revised:
17
02
2021
accepted:
23
02
2021
pubmed:
4
4
2021
medline:
27
4
2022
entrez:
3
4
2021
Statut:
ppublish
Résumé
Rare protein-truncating variants (PTVs) in partner and localiser of BRCA2 ( Mutation testing was performed on germline DNA (n=15 768) using targeted sequencing panels. The functional impact of missense variants was tested in mouse embryonic stem cell based functional assays. PTVs in Despite genetic and lifestyle differences between Asian and other populations, the population prevalence of
Sections du résumé
BACKGROUND
Rare protein-truncating variants (PTVs) in partner and localiser of BRCA2 (
METHODS
Mutation testing was performed on germline DNA (n=15 768) using targeted sequencing panels. The functional impact of missense variants was tested in mouse embryonic stem cell based functional assays.
RESULTS
PTVs in
CONCLUSION
Despite genetic and lifestyle differences between Asian and other populations, the population prevalence of
Identifiants
pubmed: 33811135
pii: jmedgenet-2020-107471
doi: 10.1136/jmedgenet-2020-107471
pmc: PMC9046754
doi:
Substances chimiques
Fanconi Anemia Complementation Group N Protein
0
PALB2 protein, human
0
Palb2 protein, mouse
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
481-491Subventions
Organisme : Wellcome Trust
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 203477/Z/16/Z
Pays : United Kingdom
Informations de copyright
© Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.
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