Ontology highlight
ABSTRACT:
SUBMITTER: Torrezan GT
PROVIDER: S-EPMC4062040 | biostudies-literature | 2014
REPOSITORIES: biostudies-literature
Torrezan Giovana T GT Ferreira Elisa N EN Nakahata Adriana M AM Barros Bruna D F BD Castro Mayra T M MT Correa Bruna R BR Krepischi Ana C V AC Olivieri Eloisa H R EH Cunha Isabela W IW Tabori Uri U Grundy Paul E PE Costa Cecilia M L CM de Camargo Beatriz B Galante Pedro A F PA Carraro Dirce M DM
Nature communications 20140609
Wilms tumour (WT) is an embryonal kidney neoplasia for which very few driver genes have been identified. Here we identify DROSHA mutations in 12% of WT samples (26/222) using whole-exome sequencing and targeted sequencing of 10 microRNA (miRNA)-processing genes. A recurrent mutation (E1147K) affecting a metal-binding residue of the RNase IIIb domain is detected in 81% of the DROSHA-mutated tumours. In addition, we identify non-recurrent mutations in other genes of this pathway (DGCR8, DICER1, XP ...[more]