Studies Identify More Risk Loci for Esophageal Adenocarcinoma

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The number of known risk loci for Barrett's esophagus and esophageal adenocarcinoma has doubled.
The number of known risk loci for Barrett's esophagus and esophageal adenocarcinoma has doubled.

The number of known risk loci for Barrett's esophagus and esophageal adenocarcinoma has doubled, revealing further insights into the causes of these 2 diseases, according to a meta-analysis of genome-wide association studies published in The Lancet Oncology.1

Although Barrett's esophagus is a premalignant precursor to 1 of the fastest rising cancers in high-income countries, only a small proportion of patients with Barrett's esophagus develop esophageal cancer. Because of the absence of valid predictors for determining which patients with Barrett's esophagus will develop esophageal adenocarcinoma, researchers sought to identify novel genetic risk variants for both diseases.

For the study, investigators analyzed data from 6167 patients with Barrett's esophagus and 4112 patients with esophageal adenocarcinoma, in addition to 17,159 representative controls, who were included in 4 genome-wide association studies.

Researchers identified 8 new risk loci associated with either Barrett's esophagus or esophageal adenocarcinoma, within or near the genes CFTR (rs17451754; P = 4.8 × 10−10), MSRA (rs17749155; P = 5.2 × 10−10), LINC00208 and BLK(rs10108511; P = 2.1 × 10−9), KHDRBS2 (rs62423175; P = 3.0 × 10−9) , TPPP  and CEP72 (rs9918259; P = 3.2 × 10−9), TMOD1 (rs7852462; P = 1.5 × 10−8), SATB2 (rs139606545; P = 2.0 × 10−8), and HTR3C and ABCC5 (rs9823696; P = 1.6 × 10−8).

RELATED: VSIG10L Gene May Signify Susceptibility to Esophageal Adenocarcinoma

The locus detected near HTR3C and ABCC5 (rs9823696) was associated specifically with esophageal adenocarcinoma (P = 1.6 × 10−8) and was independent of developing Barrett's esophagus (P = .45), suggesting that this locus might constitute a novel genetic marker for predicting the transition from Barrett's esophagus to esophageal adenocarcinoma.


  1. Gharahkhani P, Fitzgerald RC, Vaughan TL, et al. Genome-wide association studies in oesophageal adenocarcinoma and Barrett's oesophagus: a large-scale meta-analysis. Lancet Oncol. 2016 Aug 12. doi: 10.1016/S1470-2045(16)30240-6. [Epub ahead of print] 

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