Whole exome sequencing of a liver-fluke associated cholangiocarcinoma, a fatal bile duct cancer, is reported in a study this week in Nature Genetics. Cholangiocarcinoma (CCA) accounts for 10-25% of primary liver cancers worldwide, and is found with high prevalence in southeast Asia in association with Opisthorchis viverrini infection.

Bin Tean Teh and colleagues report whole-exome sequencing of eight tumors and matched normal tissue from O. viverrini-related CCA cases. They follow by screening 15 genes in an additional 46 cases to examine mutation prevalence. They identify somatic mutations in several genes known to be associated with cancer, as well as 10 genes newly implicated in the mutational landscape of CCA. This suggests a role for histone modifiers, G protein signaling, and genome stability in the development of this cancer.