Rare Cancer's Genetic Pathway Uncovered

Scientists at Simon Fraser University have identified a "multinational landscape" of intrahepatic cholangiocarcinoma (ICC)--a rare, highly fatal form of liver cancer that disproportionately affects people in Asian countries. The findings are published in the journal Nature Communications.

For the study, researchers worked to identify how certain mutations affect genes and signaling pathways that may drive the formation of tumors in ICC, which accounts for about 10 percent of primary liver malignancies throughout the world. In fact, statistics show that it strikes about one in 100,000 people annually in North America but 96 per 100,000 in Thailand.

At this time, there are no effective therapies for ICC. Furthermore, median survival duration is just about six to nine months following diagnosis, according to a recent study published in the Canadian Journal of Gastroenterology.

"Our research is by far the most comprehensive sequencing effort to identify mutations associated with ICC and will be an important resource for scientists working to improve understanding and therapy for the disease," said lead study author SFU molecular biology and biochemistry professor Jack (Nansheng) Chen Chen, in a news release. 

Researchers noted that the study is the first large-scale effort to target ICC patients in China and one of the largest similar projects, as well.

"Results from this study could help us understand the driver mutations in Chinese Canadians with intrahepatic bile duct cancer," he concluded. "And our work illustrates that this is a real opportunity and sets up a model for working on rare disease conditions."

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