Genetic Determinants of Barrett's Esophagus and Esophageal Adenocarcinoma

This research will eventually lead to the identification of inherited genetic changes that
cause Barrett's esophagus and esophageal cancer. It will help the investigators develop
better methods for preventing or identifying esophageal cancer at an early curable stage.

The capsule can be swallowed with a few sips water. Once the capsule is advanced to 45-50 cm
from the incisors and reaches the stomach the balloon is inflated to a size of 16 mm with 5.5
cc air. It is withdrawn until a tug is felt to locate the gastroesophageal junction (GEJ).
The inflated balloon is then pulled back 3 to 5 cm to sample the distal esophagus, then
completely deflated to cause inversion of the biospecimen into its protective capsule, and
then withdrawn. The balloon is re-inflated outside the patient and the obtained sample is
clipped with scissors into a vial and frozen. The collected biospecimen will be stored frozen
for later DNA extraction and assay. The vials will be labeled with a coded sample number. In
a pilot study of 120 subjects this capsule esophageal sampling was performed with no adverse
events reported. Similar esophageal sampling devices have been reported on over 1600 patients
with no adverse events.

All patients will also undergo standard EGD. Patients with BE or EAC will have standard of
care surveillance and diagnostic biopsies. All cases and controls will have research
esophageal brushings from the BE/EAC and distal esophagus/gastric cardia, respectively. Cases
and controls will also obtain research brushings from the proximal normal squamous esophagus.
Research mucosal biopsies will also be obtained from the BE and EAC epithelium as well as
normal stomach and duodenum in cases and from the gastric cardia and the distal squamous
esophagus as well as normal stomach and duodenum in controls. Biopsies from BE and EAC will
be directed by using high definition narrow band imaging. Biospecimens, brushings and
biopsies, will be snap frozen at bedside and stored for future research assays. Although we
do not anticipate any problems with our non-endoscopic balloon screening, these archived
pathology samples and snap frozen samples will be available for assay in case we fail to
detect our markers in patients with BE diagnosed at EGD or experience a high false positive
rate. Subjects who undergo non-endoscopic sampling of the distal esophagus will be asked
questions that rate their discomfort on a Likert scale and also asked questions comparing the
non-endoscopic sampling study with an EGD.

Eligible cases will be defined as those patients and their family members who meet the
following criteria:

- Barrett's esophagus confirmed by review of pathology and endoscopy report or
adenocarcinoma of the esophagus or family members of person with Barrett's esophagus
or adenocarcinoma of the esophagus.

- Male or female age 18 or older at time of enrollment or male or female less than 18
years of age at time of enrollment with parental consent.

- Ability to give informed consent, if patient is age 18 or older.