Somatic mutations in the upper gastrointestinal tract
Research type
Research Study
Full title
Exploring the landscape of somatic mutations in the upper gastrointestinal tract.
IRAS ID
326845
Contact name
Ayesha Noorani
Contact email
Sponsor organisation
Genome Research Limited operating as The Wellcome Sanger Institute
Duration of Study in the UK
5 years, 0 months, 1 days
Research summary
The upper gastro-intestinal tract includes the oesophagus and the stomach. Cancers arising in these areas have poor outcomes.
Oesophageal cancer is the 6th most common cause of cancer death worldwide with a 5-year survival of 10-25%. There are two main sub-types; oesophageal adenocarcinoma and the more globally dominant oesophageal squamous cell carcinoma. An important type of DNA change are mutations, which can be either inherited (‘germline’ mutations) or acquired during a cell’s lifetime (‘somatic’ mutations). Somatic mutations are changes to the sequence of the genome that are thought to occur in all living cells over the course of a lifetime. Achalasia and Chagas are diseases of the oesophagus that greatly increase cancer incidence.
There is in addition a concerning trend of increased incidence worldwide of young onset gastric cancer, in the proximal part of the stomach worldwide, with no clear understanding of why this may be. Understanding the earliest alterations in the normal and diseased gastric mucosa would again, be key in delineating the earliest steps of carcinogenesis.
There is significant overlap in disease management and aetiology, with oesophageal adenocarcinomas and gastric adenocarcinomas often grouped together in clinical trials. Moreoever, the teams that manage both in the multidisciplinary team meeting are also shared across both gastric and oesopahgeal cancer (oncology , pathology, radiology and surgery).In this study, we will explore somatic mutations in healthy and diseased upper gastrointestinal tract tissue, with an aim to identify genomic factors that may predict the development of cancer and hence aid in developing preventive and therapeutic strategies to mitigate this risk.
In this study we will receive pre-collected tissues from collaborators, tissue banks, commercial suppliers and diagnostic archives. As some conditions are rare we will also receive prospectively collected samples from affected individuals through clinical collaborations.
REC name
London - Brent Research Ethics Committee
REC reference
24/PR/1132
Date of REC Opinion
12 Sep 2024
REC opinion
Favourable Opinion