Frequency of pathogenic germline variants in pediatric medulloblastoma survivors.
germline
medulloblastoma
pathogenic
pediatric
survivor
Journal
Frontiers in oncology
ISSN: 2234-943X
Titre abrégé: Front Oncol
Pays: Switzerland
ID NLM: 101568867
Informations de publication
Date de publication:
2024
2024
Historique:
received:
31
05
2024
accepted:
17
07
2024
medline:
26
8
2024
pubmed:
26
8
2024
entrez:
26
8
2024
Statut:
epublish
Résumé
Medulloblastoma is the most common malignant brain tumor in children. Most cases are sporadic, but well characterized germline alterations in Germline exome sequencing was conducted on 160 childhood survivors of medulloblastoma. Analyses focused on rare variants in 239 known cancer susceptibility genes (CSGs). P/LP variants were identified using ClinVar and InterVar. Variants of unknown significance in known medulloblastoma predisposing genes ( Twenty cases (12.5%) had a P/LP variant in an autosomal dominant CSG versus 5% in controls (p=1.0 x10 Approximately one in eight pediatric medulloblastoma survivors had an autosomal dominant P/LP CSG variant. We confirm several known associated genes and identify novel genes that may be important in medulloblastoma.
Sections du résumé
Background
UNASSIGNED
Medulloblastoma is the most common malignant brain tumor in children. Most cases are sporadic, but well characterized germline alterations in
Methods
UNASSIGNED
Germline exome sequencing was conducted on 160 childhood survivors of medulloblastoma. Analyses focused on rare variants in 239 known cancer susceptibility genes (CSGs). P/LP variants were identified using ClinVar and InterVar. Variants of unknown significance in known medulloblastoma predisposing genes (
Results
UNASSIGNED
Twenty cases (12.5%) had a P/LP variant in an autosomal dominant CSG versus 5% in controls (p=1.0 x10
Conclusion
UNASSIGNED
Approximately one in eight pediatric medulloblastoma survivors had an autosomal dominant P/LP CSG variant. We confirm several known associated genes and identify novel genes that may be important in medulloblastoma.
Identifiants
pubmed: 39184053
doi: 10.3389/fonc.2024.1441958
pmc: PMC11341988
doi:
Types de publication
Journal Article
Langues
eng
Pagination
1441958Informations de copyright
Copyright © 2024 Rees, Gianferante, Kim, Stavrou, Reaman, Sapkota, Gramatges, Morton, Hudson, Armstrong, Freedman, Huang, Diver, Lori, Luo, Hicks, Liu, Hutchinson, Goldstein and Mirabello.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.