Novel mutations, some in genes of the Wnt and ubiquitination pathways, have been discovered in hepatoblastoma tissue after whole-exome sequencing. Subsequent experiments identified one novel oncogene (CAPRIN2) and three tumour suppressors (SPOP, OR5I1 and CDC20B) that might affect hepatoblastoma cell survival. The study confirms that activation of the Wnt pathway is involved in hepatoblastoma development and expands the number of known mutations.
References
Jia, D. et al. Exome sequencing of hepatoblastoma reveals novel mutations and cancer genes in the Wnt pathway and ubiquitin ligase complex. Hepatology 10.1002/hep.27243
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New mutations involved in hepatoblastoma identified. Nat Rev Gastroenterol Hepatol 11, 454 (2014). https://doi.org/10.1038/nrgastro.2014.113
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DOI: https://doi.org/10.1038/nrgastro.2014.113
