23. September 2022 • Diagnostics
16 new risk genes identified in international study
A large international research group with the involvement of Leipzig University Medical Center has identified previously unknown genes that are partly responsible for the development of esophageal cancer. Data from various studies were combined, enabling over 16,000 patients with esophageal cancer and its precursors to be included. The results of what is currently the world’s biggest analysis of the disease have now been published in the scientific journal “Gut.”
“Esophageal cancer is a serious oncological disease that requires professional multimodal therapy. In recent years, the median survival of patients with esophageal cancer has improved to 50 months. Nevertheless, our goal must be to detect and identify risk factors early on,” declared Professor Ines Gockel from Leipzig University, one of the initiators of the Barrett Consortium and head of visceral surgery at Leipzig University Hospital.
In recent decades, a steady increase in cases of esophageal cancer (also known as Barrett’s esophagus) in the lower third of the esophagus has been observed in Western industrialized nations. In Germany, approximately 4,500 people are diagnosed with esophageal cancer annually, with males being affected far more frequently than females. It’s generally preceded by years of chronic irritation resulting from gastroesophageal reflux – acid reflux from the stomach into the lower esophagus.
World’s largest genome-wide association study of esophageal cancer
The research review – the largest study on this topic in the world – has identified 16 novel risk genes for esophageal cancer. The genome-wide association study included DNA analyses from 16,790 patients and 32,476 control subjects. For DNA analysis, subjects merely had to provide two tubes of blood and complete a questionnaire about the course of the disease and their lifestyle habits.
“The results of this review highlight the highly innovative nature of our Comprehensive Cancer Center Central Germany. CCCG was recently certified by German Cancer Aid,” said Professor Florian Lordick, Director of the University Cancer Center at Leipzig University Hospital and Chair of the CCCG.
The review’s findings will now be further elaborated. The international experts intend to obtain an even better understanding of the causes and development of esophageal cancer as well as how high-risk patients can be identified to improve the early detection of this insidious disease. The study was funded by the DFG German Research Foundation, the Else Kröner-Fresenius Foundation, the BMBF Ministry of Education and Research, and Barrett Initiative.
In order to continue pioneering research into esophageal cancer in the future, the Barrett Charity Dinner will be held for the fourth time in Leipzig on September 10, 2022.
Original publication in Gut:
“GWAS meta-analysis of 16,790 patients with Barrett’s esophagus and esophageal adenocarcinoma identifies 16 novel genetic risk loci and provides insights into disease etiology beyond the single marker level.” DOI: http://dx.doi.org/10.1136/gutjnl-2021-326698.