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Researchers discover gene variant associated with esophageal cancer

Date:
July 28, 2016
Source:
University Hospitals Case Medical Center
Summary:
A rare genetic mutation is associated with susceptibility to familial Barrett esophagus and esophageal cancer, according to a new study that set out to identify novel disease susceptibility variants in FBE in affected individuals from a large multigenerational family.
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Researchers at University Hospitals Case Medical Center have discovered that a rare genetic mutation is associated with susceptibility to familial Barrett esophagus (FBE) and esophageal cancer, according to a new study published in the July issue of JAMA Oncology.

Amitabh Chak, MD, of University Hospitals Case Medical Center's Seidman Cancer Center and Case Western Reserve University School of Medicine, and colleagues set out to identify novel disease susceptibility variants in FBE in affected individuals from a large multigenerational family.

The team, led by Dr. Chak along with collaborating senior author Kishore Guda, DVM, PhD, of the Case Comprehensive Cancer Center, used targeted next generation gene sequencing to find a rare mutation (S631G) in FBE in the uncharacterized gene VSIG10L that segregated with disease in affected family members. Functional studies revealed that this mutation disrupts maturation of the normal esophageal lining.

"Instances of esophageal cancer are on the rise, and the disease has a poor five-year survival rate of less than 15 percent," said Dr. Chak. "However early detection through screening can prevent the development of esophageal cancer. Further research assessing this gene variant may reveal pathways important for the pathogenesis of BE and esophageal adenocarcinoma, leading to earlier detection and better treatment options."

Affecting up to 6.8 percent of the population, BE is a leading predictor of esophageal cancer. Compared with the general population, patients with BE have an 11-fold higher risk of developing adenocarcinoma of the esophagus. But despite a dramatic increase in the disease over the past four decades, there have been few advances in understanding and improving treatment options.

Discovery of this variant, which is the first susceptibility variant discovered in FBE, reveals novel biology in disease pathogenesis, and indicates early screening and close clinical monitoring for individuals harboring this germline variant.

"This is a step forward in combating this deadly disease as we discovered a new way to categorize those at risk for esophageal adenocarcinoma," says Dr. Chak.


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Materials provided by University Hospitals Case Medical Center. Note: Content may be edited for style and length.


Journal Reference:

  1. Ryan E. Fecteau, Jianping Kong, Adam Kresak, Wendy Brock, Yeunjoo Song, Hisashi Fujioka, Robert Elston, Joseph E. Willis, John P. Lynch, Sanford D. Markowitz, Kishore Guda, Amitabh Chak. Association Between Germline Mutation inVSIG10Land Familial Barrett Neoplasia. JAMA Oncology, 2016; DOI: 10.1001/jamaoncol.2016.2054

Cite This Page:

University Hospitals Case Medical Center. "Researchers discover gene variant associated with esophageal cancer." ScienceDaily. ScienceDaily, 28 July 2016. <www.sciencedaily.com/releases/2016/07/160728125030.htm>.
University Hospitals Case Medical Center. (2016, July 28). Researchers discover gene variant associated with esophageal cancer. ScienceDaily. Retrieved May 28, 2017 from www.sciencedaily.com/releases/2016/07/160728125030.htm
University Hospitals Case Medical Center. "Researchers discover gene variant associated with esophageal cancer." ScienceDaily. www.sciencedaily.com/releases/2016/07/160728125030.htm (accessed May 28, 2017).

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