Shallow Whole Genome Sequencing in Barrett's Oesophagus
Research type
Research Study
Full title
Shallow Whole Genome Sequencing for the Progression of Barrett's Oesophagus: a validation study.
IRAS ID
251306
Contact name
Helen Coleman
Contact email
Sponsor organisation
Queen's University Belfast
Duration of Study in the UK
0 years, 6 months, 1 days
Research summary
Barrett's oesophagus is an extension of the lining of the stomach into the oesophagus due to acid reflux. Most cases are harmless but it can develop into cancer of the oesophagus, which is highly lethal. Our working groups in Northern Ireland and the Fitzgerald lab in Cambridge have previously worked independently and collaboratively to identify ways to identify high risk Barrett's oesophagus patients. Recently the Fitzgerald lab have made an exciting breakthrough. Using Shallow Whole Genome Sequencing, which is a cost-effective method of investigating changes in the DNA of the Barrett's oesophagus, they were able to test 97% of samples from 90 patients. In Barrett's, they observed significantly larger parts of the DNA being multiplied in patients who progressed to cancer compared with non-progressors. This work now requires testing in an independent cohort of samples from another hospital to check that it is a true result. The Northern Ireland Barrett's research team have recently investigated the association between infectious agents and risk of Barrett's progression. The clinical data and tissue samples have already been collected, and processed for the purposes of that study. We propose to use anonymised data and samples relating to this study which includes cases from within the Northern Ireland Biobank jurisdiction (a maximum of 95 progressors, with 2 matched controls) to provide a validation cohort for the above Shallow Whole Genome Sequencing work conducted in Cambridge. This work will allow testing of the Cambridge results and will hopefully lead to a molecular test which can successfully identify patients with Barrett's oesophagus who are at a high risk of progressing to cancer. This will allow their Barrett's oesophagus to treated and removed before they develop cancer.
REC name
East Midlands - Leicester South Research Ethics Committee
REC reference
18/EM/0283
Date of REC Opinion
13 Sep 2018
REC opinion
Favourable Opinion