Mainstreaming familial cancer testing in bowel cancer
Research type
Research Study
Full title
Mainstreaming Familial Cancer Testing in Bowel Cancer
IRAS ID
331140
Contact name
Andrew Beggs
Contact email
Sponsor organisation
University of Birmingham
Duration of Study in the UK
1 years, 5 months, 30 days
Research summary
Bowel cancer is one of the most common cancers in the UK. About one in ten bowel cancers are caused by changes in genes that can be passed down through families. One of the most significant examples of this is in a condition called Lynch Syndrome. Individuals with Lynch Syndrome have a far greater risk of developing bowel cancer (and other cancer types) than the general population. It is thought that approximately 1 in 350 of all individuals and 2-4 in 100 of patients with colorectal cancer have Lynch Syndrome, but only about 5% of these patients are correctly identified and followed up. Testing is currently slow and can take up to 6 months to return a result. By identifying these patients earlier, we can offer them and their families better and more tailored treatment, such as immunotherapy or tailored surgery.
We plan to (with full informed consent) receive saliva samples from patients who have or have had bowel cancer attending our clinic. We would then use these saliva samples to perform very quick genetic testing (in less than 24 hours) using a new technique called Nanopore Sequencing which is very quick and portable.
The main objective is to identify those with genetic changes that can be passed down through families so that they and their families can be appropriately followed up and screened for bowel (and other) cancers. In addition to Lynch Syndrome, we will test for FAP; Cowdens, Peutz-Jeghers, PPP and Juvenile Polyposis Syndrome as these represent all of the known conditions that can cause bowel cancer that can be inherited.
Patients found to have conditions such as Lynch Syndrome will be offered appointments into a specialist clinic where they will be assessed and offered further investigations as appropriate, with the aim of identifying cancers at the earliest stages.
REC name
North West - Greater Manchester South Research Ethics Committee
REC reference
24/NW/0139
Date of REC Opinion
3 Jun 2024
REC opinion
Further Information Favourable Opinion