SEOUL NATIONAL UNIVERSITY HOSPITAL

- International joint research led by team of Dr. Jin-Young Jang at Seoul National University Hospital.

- Integrated genomic analysis used to identify new gene responsible for gallbladder cancer.

  An international joint research team including Seoul National University Hospital has succeeded in discovering a new gene responsible for causing gallbladder cancer and determining its function. Gallbladder cancer is a highly fatal malignancy with a survival period of less than a year in affected patients. Although there is virtually no approved targeted therapy available, these new findings are expected to serve as an important step for the development of new gallbladder cancer targeted treatments in the future.

 

  On November 18, Dr. Jin-Young Jang's team at Seoul National University Hospital announced the results of an integrated genomic analysis using tissue samples from a total of 167 gallbladder cancer patients in Korea, India, and Chile, which are countries known to have high occurrences of the disease. The research was conducted jointly by South Korea, which played a leading role from the planning stages, and countries like India and Chile, where there is a high occurrence of gallbladder cancer, as well as the United States.

 

  Although gallbladder cancer is the eighth most common type of cancer in Korea, it only ranks 20th worldwide, making it a rare disease. Unlike the U.S. and Europe, countries like Korea, India, Pakistan, and Chile have exceptionally higher occurrence rates of the cancer, and treatment results differ greatly. Not only has there been a lack of research both at home and abroad, but the majority of the studies conducted so far have only been done using Western patients with a low incidence of the disease, given that its occurrence is not common in the West.

 

  Considering the strong geographical differences in the incidence rate of gallbladder cancer, research teams conducted a comprehensive genomic analysis of gallbladder cancer patients in three different regions (Korea, India, and Chile) and identified a number of genetic mutations that could be targeted.

 

  Aside from the genes responsible for gallbladder cancer previously discovered in Western patients, the research revealed the occurrence of a mutation in the ELF3 gene, another gene responsible for causing the disease, to be particularly high in patients from Korea, India, and Chile.

 

  In the past, ELF3 was reported as a frequently mutated gene in biliary tract with an occurrence rate of between 3 and 9.5%, but the new research found a 31% occurrence rate in Korean patients, followed by 22% in Chilean patients, and 7% in Indian patients.

 

  Furthermore, the discovery of this new gene offers the potential to develop new treatments that recognize the gene as a targeted antigen. In other words, considering the characteristics of gallbladder cancer, which carries a poor prognosis and to which no specific treatments are available, this research shows the potential for the development of new targeted treatments aimed specifically at gallbladder cancer patients.

 

   "The results of this study are significant because the research was conducted among patients in countries with high rates of gallbladder cancer, including South Korea, instead of Western patients who suffer less from this disease. According to the results of the study, we can see that the genetic characteristics of gallbladder cancer manifests themselves very differently depending on the region, whether East or West,” said Dr. Jin-Young Jang.

 

  "I think this will allow for the development of more thorough research and treatments for Korean patients in the future," he said. "The international joint research has yielded good results, and I want to thank all the researchers and patients who took part in this study.”

 

  The findings were published in the August 2020 issue of Nature Communications, a highly reputable international academic journal.