Deshui Jia, Rui Dong, Ying Jing, Dan Xu, Qifeng Wang, Lei Chen, Qigen Li, Yuping Huang, Yuannv Zhang, Zhenfeng Zhang, Li Liu, Shan Zheng, Qiang Xia, Hongyang Wang, Kuiran Dong, Xianghuo He
UNLABELLED: Hepatoblastoma (HB) is the most common primary liver tumor in children. Mutations in the β-catenin gene that lead to constitutive activation of the Wnt pathway have been detected in a large proportion of HB tumors. To identify novel mutations in HB, we performed whole-exome sequencing of six paired HB tumors and their corresponding lymphocytes. This identified 24 somatic nonsynonymous mutations in 21 genes, many of which were novel, including three novel mutations targeting the CTNNB1 (G512V) and CAPRIN2 (R968H/S969C) genes in the Wnt pathway, and genes previously shown to be involved in the ubiquitin ligase complex (SPOP, KLHL22, TRPC4AP, and RNF169)...
November 2014: Hepatology: Official Journal of the American Association for the Study of Liver Diseases