Scientists identify rare cancer's genetic pathway

Researchers have identified the genetic pathway of a rare, highly fatal form of liver cancer that disproportionately affects people in Asian countries.
Simon Fraser University molecular biology and biochemistry professor Jack Chen and three of his lab members collaborated with Chinese researchers to identify how mutations affect genes and signalling pathways that might drive the formation of tumours in intrahepatic cholangiocarcinoma (ICC).
The researchers' findings could potentially lead to earlier and more accurate diagnosis and increased survival rates for patients with the disease, also known as intrahepatic bile duct cancer.
ICC accounts for approximately 10 per cent of primary liver malignancies worldwide, but its incidence and mortality rates have been increasing rapidly in recent years, researchers said.

The prognosis for ICC patients is usually poor, as early tumours are undetectable during routine examinations because the bile ducts are deep inside the body, leading to diagnosis only after symptoms develop and the disease has advanced.
"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 Chen.

The study is also the first and only large-scale effort to target ICC patients in China and the largest of all such projects worldwide.
It shows that Chinese ICC patients show substantial important differences in mutation profile when compared with patients from other countries, which could have important implications for Chinese Canadians with the disease.

The study was published in the journal Nature Communications.