Association Between Germline Mutation in VSIG10L and Familial Barrett Neoplasia.

ABSTRACT:

Importance

Esophageal adenocarcinoma and its precursor lesion Barrett esophagus have seen a dramatic increase in incidence over the past 4 decades yet marked genetic heterogeneity of this disease has precluded advances in understanding its pathogenesis and improving treatment.

Objective

To identify novel disease susceptibility variants in a familial syndrome of esophageal adenocarcinoma and Barrett esophagus, termed familial Barrett esophagus, by using high-throughput sequencing in affected individuals from a large, multigenerational family.

Design, setting, and participants

We performed whole exome sequencing (WES) from peripheral lymphocyte DNA on 4 distant relatives from our multiplex, multigenerational familial Barrett esophagus family to identify candidate diseas

SUBMITTER: Fecteau RE 

PROVIDER: S-EPMC5063702 | biostudies-literature | 2016 Oct

REPOSITORIES: biostudies-literature