The Bowel Functional Genomics Study version 1.0
Research type
Research Study
Full title
The Bowel Functional Genomics (BFG) Study
IRAS ID
327327
Contact name
Malcolm Dunlop
Contact email
Sponsor organisation
The Queen’s Medical Research Institute, University of Edinburgh
Duration of Study in the UK
5 years, 0 months, 1 days
Research summary
Colorectal cancer (CRC) is a leading cause of cancer related death worldwide (860,000/year). The 5-year UK survival rate is 60%, however this varies greatly depending on stage at diagnosis; 90% survival at Stage 1 versus 10% survival with Stage 4. Early identification of patients at risk is fundamental in managing this disease. Whilst approximately 40% of CRC risk is attributable to heritable genetic variation, it is not well understood. Identifying common genetic variants has thus become a priority in CRC research.
This study aims to uncover the mechanisms via which genetics and environmental factors effect CRC-risk. The objectives of the study are to obtain human material that will allow identification of genetic variants and other factors that play a role in CRC-risk. Patients attending the NHS Lothian Colorectal Department with and without CRC, or patients under investigation to exclude colorectal disease will be eligible for recruitment. Following informed consent, participation will include blood and/or saliva sampling. In addition, should a rectal assessment be carried out during the clinical consultation, a rectal biopsy and faceal material will also be sampled. If a rectal assessment is not needed during clinical consultation, a rectal biopsy and facial material may be obtained when patients attend NHS Lothian for an operation or endoscopic assessment, as part of their planned clinical pathway.
The samples will enable the study of gene expression and epigenetic markers of CRC-risk. Blood sampling will also enable the study of known, and, as yet unknown, blood components (e.g. vitamins) associated with CRC-risk. The study of faecal material will explore the relationship between the gut microbiome and the genetic variation, and its relationship with CRC-risk.
The study is generously funded by Cancer Research UK. Recruitment will occur at NHS Lothian Colorectal Surgery Department sites.REC name
South East Scotland REC 02
REC reference
23/SS/0062
Date of REC Opinion
5 Jun 2023
REC opinion
Further Information Favourable Opinion