Exome Analysis Links Three Variants to Pancreatic Cancer in Chinese Population

NEW YORK (GenomeWeb) – Researchers have uncovered three low-frequency variants that contribute to pancreatic cancer risk among individuals of Chinese ancestry.

Pancreatic ductal adenocarcinoma (PDAC) affects some 44,000 people each year in the US, according to the National Cancer Institute. It has a low five-year overall survival rate of 5 percent, and, the authors of the new study said, its incidence is on the rise.

A team led by Huazhong University of Sciences and Technology researchers conducted exome-wide association analyses of pancreatic ductal adenocarcinoma in more than 3,000 cases and 8,600 controls. As they reported this week in Nature Communications, the researchers identified three low-frequency coding mutations linked to an increased risk of pancreatic ductal adenocarcinoma. One variant in particular, affecting the PKN1 gene, increased phosphorylation levels and cell proliferation in functional studies, suggesting how it might influence cancer risk.

“These findings highlight the significance of rare coding variants in the development of PDAC and may be useful for the prevention and treatment of this disease in future,” Huazhong’s Xiaoping Miao and his colleagues wrote in their paper.

In the discovery stage of their three-stage analysis, the researchers conducted an exome-wide association study of 943 people with PDAC and 3,908

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