Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk.
Journal
Nature genetics
ISSN: 1546-1718
Titre abrégé: Nat Genet
Pays: United States
ID NLM: 9216904
Informations de publication
Date de publication:
09 2023
09 2023
Historique:
received:
17
06
2022
accepted:
05
07
2023
medline:
11
9
2023
pubmed:
18
8
2023
entrez:
17
8
2023
Statut:
ppublish
Résumé
Linkage and candidate gene studies have identified several breast cancer susceptibility genes, but the overall contribution of coding variation to breast cancer is unclear. To evaluate the role of rare coding variants more comprehensively, we performed a meta-analysis across three large whole-exome sequencing datasets, containing 26,368 female cases and 217,673 female controls. Burden tests were performed for protein-truncating and rare missense variants in 15,616 and 18,601 genes, respectively. Associations between protein-truncating variants and breast cancer were identified for the following six genes at exome-wide significance (P < 2.5 × 10
Identifiants
pubmed: 37592023
doi: 10.1038/s41588-023-01466-z
pii: 10.1038/s41588-023-01466-z
pmc: PMC10484782
doi:
Types de publication
Meta-Analysis
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1435-1439Subventions
Organisme : Wellcome Trust
ID : 203477/Z/16/Z
Pays : United Kingdom
Investigateurs
Benita Kiat-Tee Tan
(BK)
Veronique Kiak Mien Tan
(VKM)
Su-Ming Tan
(SM)
Geok Hoon Lim
(GH)
Ern Yu Tan
(EY)
Peh Joo Ho
(PJ)
Alexis Jiaying Khng
(AJ)
Commentaires et corrections
Type : ErratumIn
Informations de copyright
© 2023. The Author(s).
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