The genomic landscape of familial glioma.
Journal
Science advances
ISSN: 2375-2548
Titre abrégé: Sci Adv
Pays: United States
ID NLM: 101653440
Informations de publication
Date de publication:
28 04 2023
28 04 2023
Historique:
medline:
1
5
2023
pubmed:
28
4
2023
entrez:
28
4
2023
Statut:
ppublish
Résumé
Glioma is a rare brain tumor with a poor prognosis. Familial glioma is a subset of glioma with a strong genetic predisposition that accounts for approximately 5% of glioma cases. We performed whole-genome sequencing on an exploratory cohort of 203 individuals from 189 families with a history of familial glioma and an additional validation cohort of 122 individuals from 115 families. We found significant enrichment of rare deleterious variants of seven genes in both cohorts, and the most significantly enriched gene was
Identifiants
pubmed: 37115922
doi: 10.1126/sciadv.ade2675
pmc: PMC10146888
doi:
Substances chimiques
DMBT1 protein, human
0
Calcium-Binding Proteins
0
DNA-Binding Proteins
0
Tumor Suppressor Proteins
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
eade2675Subventions
Organisme : Cancer Research UK
ID : 25514
Pays : United Kingdom
Organisme : NHLBI NIH HHS
ID : T32 HL092332
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA217105
Pays : United States
Organisme : Medical Research Council
ID : MR/M009203/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : MC_PC_14089
Pays : United Kingdom
Organisme : Medical Research Council
ID : MC_EX_MR/M009203/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/T028068/1
Pays : United Kingdom
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