%0 Journal Article
%A Begemann, Matthias
%A Waszak, Sebastian M
%A Robinson, Giles W
%A Jäger, Natalie
%A Sharma, Tanvi
%A Knopp, Cordula
%A Kraft, Florian
%A Moser, Olga
%A Mynarek, Martin
%A Guerrini-Rousseau, Lea
%A Brugieres, Laurence
%A Varlet, Pascale
%A Pietsch, Torsten
%A Bowers, Daniel C
%A Chintagumpala, Murali
%A Sahm, Felix
%A Korbel, Jan O
%A Rutkowski, Stefan
%A Eggermann, Thomas
%A Gajjar, Amar
%A Northcott, Paul
%A Elbracht, Miriam
%A Pfister, Stefan M
%A Kontny, Udo
%A Kurth, Ingo
%T Germline GPR161 Mutations Predispose to Pediatric Medulloblastoma.
%J Journal of clinical oncology
%V 38
%N 1
%@ 1527-7755
%C Alexandria, Va.
%I American Society of Clinical Oncology
%M DKFZ-2019-02462
%P 43-50
%D 2020
%Z 2020 Jan 1;38(1):43-50.
%X 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
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:31609649
%R 10.1200/JCO.19.00577
%U https://inrepo02.dkfz.de/record/147341