%0 Journal Article
%A Wegert, Jenny
%A Ishaque, Naveed
%A Vardapour, Romina
%A Geörg, Christina
%A Gu, Zuguang
%A Bieg, Matthias
%A Ziegler, Barbara
%A Bausenwein, Sabrina
%A Nourkami, Nasenien
%A Ludwig, Nicole
%A Keller, Andreas
%A Grimm, Clemens
%A Kneitz, Susanne
%A Williams, Richard D
%A Chagtai, Tas
%A Pritchard-Jones, Kathy
%A van Sluis, Peter
%A Volckmann, Richard
%A Koster, Jan
%A Versteeg, Rogier
%A Acha, Tomas
%A O'Sullivan, Maureen J
%A Bode, Peter K
%A Niggli, Felix
%A Tytgat, Godelieve A
%A van Tinteren, Harm
%A van den Heuvel-Eibrink, Marry M
%A Meese, Eckart
%A Vokuhl, Christian
%A Leuschner, Ivo
%A Graf, Norbert
%A Eils, Roland
%A Pfister, Stefan
%A Kool, Marcel
%A Gessler, Manfred
%T Mutations in the SIX1/2 pathway and the DROSHA/DGCR8 miRNA microprocessor complex underlie high-risk blastemal type Wilms tumors.
%J Cancer cell
%V 27
%N 2
%@ 1535-6108
%C Cambridge, Mass.
%I Cell Press
%M DKFZ-2017-03785
%P 298 - 311
%D 2015
%X Blastemal histology in chemotherapy-treated pediatric Wilms tumors (nephroblastoma) is associated with adverse prognosis. To uncover the underlying tumor biology and find therapeutic leads for this subgroup, we analyzed 58 blastemal type Wilms tumors by exome and transcriptome sequencing and validated our findings in a large replication cohort. Recurrent mutations included a hotspot mutation (Q177R) in the homeo-domain of SIX1 and SIX2 in tumors with high proliferative potential (18.1
%K DGCR8 protein, human (NLM Chemicals)
%K Homeodomain Proteins (NLM Chemicals)
%K MicroRNAs (NLM Chemicals)
%K Neoplasm Proteins (NLM Chemicals)
%K Nerve Tissue Proteins (NLM Chemicals)
%K RNA-Binding Proteins (NLM Chemicals)
%K SIX1 protein, human (NLM Chemicals)
%K SIX2 protein, human (NLM Chemicals)
%K DROSHA protein, human (NLM Chemicals)
%K Ribonuclease III (NLM Chemicals)
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:25670083
%R 10.1016/j.ccell.2015.01.002
%U https://inrepo02.dkfz.de/record/127763