TY  - JOUR
AU  - Begemann, Matthias
AU  - Waszak, Sebastian M
AU  - Robinson, Giles W
AU  - Jäger, Natalie
AU  - Sharma, Tanvi
AU  - Knopp, Cordula
AU  - Kraft, Florian
AU  - Moser, Olga
AU  - Mynarek, Martin
AU  - Guerrini-Rousseau, Lea
AU  - Brugieres, Laurence
AU  - Varlet, Pascale
AU  - Pietsch, Torsten
AU  - Bowers, Daniel C
AU  - Chintagumpala, Murali
AU  - Sahm, Felix
AU  - Korbel, Jan O
AU  - Rutkowski, Stefan
AU  - Eggermann, Thomas
AU  - Gajjar, Amar
AU  - Northcott, Paul
AU  - Elbracht, Miriam
AU  - Pfister, Stefan M
AU  - Kontny, Udo
AU  - Kurth, Ingo
TI  - Germline GPR161 Mutations Predispose to Pediatric Medulloblastoma.
JO  - Journal of clinical oncology
VL  - 38
IS  - 1
SN  - 1527-7755
CY  - Alexandria, Va.
PB  - American Society of Clinical Oncology
M1  - DKFZ-2019-02462
SP  - 43-50
PY  - 2020
N1  - 2020 Jan 1;38(1):43-50.
AB  - 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 (GPR161) gene in six patients with infant-onset medulloblastoma (median age, 1.5 years). GPR161 mutations were exclusively associated with the sonic hedgehog medulloblastoma (MBSHH) subgroup and accounted for 5
LB  - PUB:(DE-HGF)16
C6  - pmid:31609649
DO  - DOI:10.1200/JCO.19.00577
UR  - https://inrepo02.dkfz.de/record/147341
ER  -