A genome-wide association study on medulloblastoma.
Adolescents and young adults (AYA)
CNS cancers
Epidemiology
Genetics of risk, outcome, and prevention
Pediatric cancers
Journal
Journal of neuro-oncology
ISSN: 1573-7373
Titre abrégé: J Neurooncol
Pays: United States
ID NLM: 8309335
Informations de publication
Date de publication:
Apr 2020
Apr 2020
Historique:
received:
12
12
2019
accepted:
03
02
2020
pubmed:
15
2
2020
medline:
3
2
2021
entrez:
15
2
2020
Statut:
ppublish
Résumé
Medulloblastoma is a malignant embryonal tumor of the cerebellum that occurs predominantly in children. To find germline genetic variants associated with medulloblastoma risk, we conducted a genome-wide association study (GWAS) including 244 medulloblastoma cases and 247 control subjects from Sweden and Denmark. Genotyping was performed using Illumina BeadChips, and untyped variants were imputed using IMPUTE2. Fifty-nine variants in 11 loci were associated with increased medulloblastoma risk (p < 1 × 10 The results of this study, including a novel potential medulloblastoma risk loci at 18p11.23, are suggestive but need further validation in independent cohorts.
Identifiants
pubmed: 32056145
doi: 10.1007/s11060-020-03424-9
pii: 10.1007/s11060-020-03424-9
pmc: PMC7136185
doi:
Substances chimiques
Biomarkers, Tumor
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
309-315Subventions
Organisme : NCI NIH HHS
ID : P01 CA196569
Pays : United States
Organisme : NIEHS NIH HHS
ID : P30 ES007033
Pays : United States
Organisme : NIH HHS
ID : R03CA106011
Pays : United States
Organisme : NIH HHS
ID : P30ES007033
Pays : United States
Organisme : NIH HHS
ID : R01CA116724
Pays : United States
Investigateurs
Michaela Prochazka
(M)
Maral Adel Fahmideh
(M)
Birgitta Lannering
(B)
Lisbeth S Schmidt
(LS)
Christoffer Johansen
(C)
Astrid Sehested
(A)
Claudia Kuehni
(C)
Michael Grotzer
(M)
Tore Tynes
(T)
Tone Eggen
(T)
Lars Klæboe
(L)
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