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Pioneering Research to Prevent Esophageal Cancer

UH Digestive Health Institute - January 2017


Chief Innovation Officer, University Hospitals Digestive Health Institute; Professor of Medicine, Case Western Reserve University School of Medicine

University Hospitals Cleveland Medical Center is leading the way on research into Barrett’s esophagus and esophageal cancer. With a survival rate of less than 20 percent, esophageal cancer is one of the deadliest cancers and is often detected too late. It is also one of the fastest rising, currently affecting nearly 37,000 in the United States. Barrett’s esophagus is an acid reflux complication that can increase esophageal cancer risk.

Exploring the intersection of these two little understood and related conditions, UH Cleveland Medical Center researchers were the first to identify that Barrett’s esophagus and esophageal cancer run in families. In 2016, in a breakthrough discovery, these researchers were also the first to discover a mutated gene that predisposes families to Barrett’s esophagus and esophageal cancer. The team is now working to identify other genes involved in these conditions, to develop ways to identify those at risk for Barrett’s and those who are most likely to progress to esophageal cancer.

Amitabh Chak, MD, Chief Innovation Officer, UH Digestive Health Institute and Professor of Medicine, Case Western Reserve University School of Medicine, leads this team, which in collaboration with Sanford D. Markowitz, MD, PhD, Medical Oncologist, UH Seidman Cancer Center and Francis Wragg Ingalls Professor of Cancer Genetics, Case Western Reserve University School of Medicine, and Joseph E. Willis, MD, Division Chief, Clinical Pathology, UH Cleveland Medical Center and Associate Professor of Pathology, Case Western Reserve University School of Medicine, has identified DNA markers to help detect Barrett’s and is working to develop DNA and RNA tests that could tell which patients are likely to progress from Barrett’s to cancer. These tests may allow less invasive screening, without endoscopy, to identify those at higher risk before cancer has developed or progressed, which is often when diagnosis occurs today.

The first study to identify a “fusion gene,” wherein two genes fuse to create a new type of gene that can be predictive of cancer risk for someone with Barrett’s disease, was published in Cancer Research in August 2016. Kishore Guda, DVM, PhD, cancer researcher and Assistant Professor of General Medical Sciences (oncology) at Case Western Reserve University School of Medicine, was senior author on the study. UH Cleveland Medical Center researchers were part of the study team, which found 21 novel gene fusions in esophageal cancer tissues.

This study could pave the way for developing new biomarkers and new treatments in Barrett’s and esophageal cancer. The findings offer a comprehensive roadmap of gene fusions and new molecular insights into this lethal disease.

Dr. Chak’s team has also developed a new model to identify those at risk for Barrett’s and predict the disease in individuals and their families, in a study published in Cancer Epidemiology, Biomarkers and Prevention (May 2016).

In 2011, Case Comprehensive Cancer Center and Case Western Reserve University were awarded one of just three National Cancer Institute grants to create an esophageal cancer research network. Chak leads the network – the Barrett’s Esophagus Translational Research Network – which focuses on the role of genetics and environment on disease progression in Barrett’s and esophageal cancer.

UH Cleveland Medical Center’s world-class research seeks to advance detection of Barrett’s esophagus, develop predictive models for esophageal cancer risk and prevention methods to stop cancer from developing. Informing all of this research is a bench-to-bedside approach that benefits patients directly, with state-of-the art treatment options as well as access to the very latest research. “We take what we learn in the lab back to patients, and what we observe at the bedside helps drive our research,” Dr. Chak says.

All National Institutes of Health (NIH) funding for basic and clinical research is awarded to the School of Medicine at Case Western Reserve University.

For more information, call 216-844-3217 or email