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Familial Barrett’s Esophagus and Esophageal Adenocarcinoma

  • Genetics in Gastroenterology Practice (B Katona, Section Editor)
  • Published:
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Abstract

Purpose of review

To examine the evidence for Familial Barrett’s Esophagus and Esophageal Adenocarcinoma and putative causative genes.

Recent findings

Recent large population studies continue to provide evidence for Familial Barrett’s Esophagus and Esophageal Adenocarcinoma. Also, based on sequencing of two multigenerational families with Barrett’s esophagus and/or esophageal adenocarcinoma, two new possible causative gene variants have been identified including VSIG10L and MSX1.

Summary

Familial Barrett’s esophagus and esophageal adenocarcinoma is increasingly becoming more recognized. Current guidelines also now incorporate family history as a risk factor for Barrett’s esophagus. Recent studies include DNA sequencing of multigenerational families in addition to previously performed GWAS studies. Several new gene variants now have been identified; however, phenotypic and mechanistic studies need to be performed to demonstrate their association with Barrett’s esophagus and esophageal adenocarcinoma.

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Funding

This work was supported by the following grants: U54CA163004 (JTG, AKR), P30 CA013696-45 (AKR), P01CA098101 (AKR), American Cancer Society RP-10-033-01-CCE (AKR), U54CA163060 (AC), P50CA150964 (AC), and P30DK097948 (AC).

Author information

Authors and Affiliations

  1. Division of Digestive and Liver Diseases, Department of Medicine and Herbert Irving Comprehensive Cancer Center, Columbia University Irving Medical Center, New York, NY, USA

    Joel Gabre MD & Anil Rustgi MD

  2. Division of Gastroenterology and Liver Diseases, Case Western Reserve University, Cleveland, OH, USA

    Amitabh Chak MD

Authors
  1. Joel Gabre MD
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  2. Amitabh Chak MD
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  3. Anil Rustgi MD
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Corresponding author

Correspondence to Anil Rustgi MD.

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Conflict of interest

Dr. Rustgi has no conflict of interest.

Dr. Gabre reports an educational grant from AbbVie, Inc., personal fees from Inovio Pharmaceuticals, Inc., outside the submitted work.

Dr. Chak reports personal fees from Intercept and personal fees from Lucid Diagnostics, outside the submitted work. In addition, Dr. Chak has a patent Device for esophageal sampling licensed to Lucid Diagnostics, and a patent Methylation Markers for Diagnosis of Barrett’s esophagus and esophageal cancer licensed to Lucid Diagnostics.

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This article does not contain any studies with human or animal subjects performed by any of the authors.

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Gabre, J., Chak, A. & Rustgi, A. Familial Barrett’s Esophagus and Esophageal Adenocarcinoma. Curr Treat Options Gastro 18, 616–622 (2020). https://doi.org/10.1007/s11938-020-00313-y

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  • DOI: https://doi.org/10.1007/s11938-020-00313-y

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