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Gene Study

Study Objectives: There is increasing evidence that there may be an underlying genetic predisposition to Barrett’s probably via multiplegenes each conferring a small risk (low penetrance). There are several case reports of families with multiple affected persons with heartburn, Barrett’s oesophagus, and sometimes adenocarcinoma in up to four generations (Romero and Locke 1999). In this study we are working with theBEACON Consortium to analyse DNA from Barrett’s patient and their relatives who suffer from heartburn to test the hypothesis that here is a genetic susceptibility for the development of Barrett’s oesophagus. This study is running in parallel to the SOCS study which is testing the same hypothesis for oesophageal and gastric adenocarcinoma.

 

Participating Centres: This is a UK-wide study open to new centres.

 

Number of Participants: 2000 patients.

 

Primary Endpoints:

  • To determine susceptibility genes for Barrett’s oesophagus by performing a genome wide association study of affected individuals compared with unaffected spouse or population matched controls
  • To examine gene-environment interactions such as smoking, alcohol andHelicobacter pylori status on familial susceptibility to Barrett’s oesophagus.

 

Secondary Endpoint:

  • To determine the mortality from oesophageal adenocarcinoma in family members with heartburn and Barrett’s oesophagus compared with deaths from other causes.

 

Patients - Inclusion criteria: Patient aged over 18 with diagnosis of Barrett’s oesophagus. 

 

Status of the study: Recruiting. 

 

PortfolioThe study has been adopted into the UKCRN and NCRI portfolio (ID 1525)

 

Gene Study Group:

  • R Fitzgerald (Chief Investigator, Cambridge)
  • I Debiram-Beecham (Trial Coordinator, Cambridge)
  • P Pharoah (Trial Statistician, Cambridge)
  • D Sulewska (Trial Administrator, Cambridge)

 

Funding

Medical Research Council

CLRN via UKCRN portfolio

 

Contacts