Germline
Brain Neoplasms
/ genetics
Child
Child, Preschool
Cohort Studies
DNA Methylation
Female
Genetic Predisposition to Disease
Germ-Line Mutation
Hedgehog Proteins
/ genetics
Heterozygote
Humans
Infant
Medulloblastoma
/ genetics
Prospective Studies
Receptors, G-Protein-Coupled
/ genetics
Signal Transduction
Exome Sequencing
Journal
Journal of clinical oncology : official journal of the American Society of Clinical Oncology
ISSN: 1527-7755
Titre abrégé: J Clin Oncol
Pays: United States
ID NLM: 8309333
Informations de publication
Date de publication:
01 01 2020
01 01 2020
Historique:
pubmed:
15
10
2019
medline:
27
6
2020
entrez:
15
10
2019
Statut:
ppublish
Résumé
The identification of a heritable tumor predisposition often leads to changes in management and increased surveillance of individuals who are at risk; however, for many rare entities, our knowledge of heritable predisposition is incomplete. Families with childhood medulloblastoma, one of the most prevalent childhood malignant brain tumors, were investigated to identify predisposing germline mutations. Initial findings were extended to genomes and epigenomes of 1,044 medulloblastoma cases from international multicenter cohorts, including retrospective and prospective clinical studies and patient series. We identified heterozygous germline mutations in the G protein-coupled receptor 161 ( Here, we describe a novel brain tumor predisposition syndrome that is caused by germline
Identifiants
pubmed: 31609649
doi: 10.1200/JCO.19.00577
pmc: PMC6943973
doi:
Substances chimiques
GPR161 protein, human
0
Hedgehog Proteins
0
Receptors, G-Protein-Coupled
0
SHH protein, human
0
Types de publication
Journal Article
Multicenter Study
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
43-50Références
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