An international research team, including Seoul National University Hospital (SNUH), has found a new gene that causes gallbladder cancer (GBC) and successfully confirmed its function. 

GBC is a fatal malignant tumor with patients’ survival period of less than a year. Since there have been no existing targeted therapies, the study is expected to lay a foundation for developing such treatments, SNUH said in a news release on Thursday.

The SNUH research team, led by Professor Jang Jin-young of the Department of Hepatobiliary and Pancreatic Surgery, announced the results of an integrated genetic analysis using tissues from 167 GBC patients in Korea, India, and Chile, where people are known to have high occurrences of gallbladder cancer. 

GBC is the eighth-most common cancer in the country, compared to the rest of the world, where it is the 20th common cancer.  

The study was conducted as a joint study with India, Chile, and the U.S., with SNUH leading the way from planning the research to deriving the project results. Unlike the U.S. and Europe, there are differences in prevalence and treatment performances of the disease in Korea, India, Pakistan and Chile. Researches have been insufficient both here and abroad, as the condition is not common in the West.   

The research team conducted a comprehensive genetic analysis of GBC patients in three different countries – Korea, India and Chile -- and identified several targetable genetic variants. 

As a result, a new causative gene, ELF3, was frequently found in the patients of the three countries, aside from causative genes mostly found among Western patients.

In the past, ELF3 gene metamorphosis was reported as a frequently mutated gene in the biliary tract at a rate of 3-9.5 percent. However, the team found it in 31 percent of Korean patients, 22 percent of Chilean patients, and 7 percent of Indian patients. 

The discovery of a new mutation implies the possibility of developing a new treatment that recognizes the gene as a target antigen. Given the hitherto unfavorable prognosis and no particular therapy, the study demonstrated the potential for new target therapy that works uniquely with the disease, the team said. 

“This study is significant as it is the result of researching patients with a high incidence of GBC, including Korea, not those in the West with a low prevalence of the disease,” Professor Jang said. “As the genetic features of gallbladder differ between the East and West, we need to develop different treatments.” 

The SNUH professor went on to say, “We expect the study will enable us to discover more detailed follow-up researches and develop a treatment for Korean GBC patients. I thank local and foreign researchers and patients who took part in the study.”

The results were published in the August issue of Nature Communication, an international academic journal.