Diagnosing inherited causes of bowel cancer

Lead researcher: Professor Andrew Beggs 

Location: University of Birmingham 

Grant award: £23,208 

Professor Beggs and Dr Neeraj Lal are testing a quicker way to diagnose inherited conditions that increase bowel cancer risk.

The challenge 

Some bowel cancers are caused by inherited genetic conditions that increase a person’s risk, such as Lynch syndrome. It’s important to find these patients to make sure they get the best care and follow-up treatment. It also means their families can be tested.

Blood tests can be used to test for these conditions. However, this can be slow, with some people waiting three months or more for their results. 

The science behind the project 

Professor Beggs, Dr Lal and the team are trying out a different way to find genetic changes called Nanopore Sequencing. This uses saliva samples from bowel cancer patients. It’s very quick and can look for multiple changes at once, at a lower cost than the current method.

The study will be testing for most of the known inherited conditions that increase bowel cancer risk. This includes Lynch syndrome, familial adenomatous polyposis, Peutz Jegher’s syndrome, juvenile polyposis syndrome and Cowden syndrome.

What difference will this project make? 

If this technique is shown to be an effective way to spot inherited bowel cancer conditions, it'll offer a much faster way to diagnose patients, and their families. This will also speed up treatment decisions that come from the diagnosis.

The test is based on saliva rather than blood, so it’s cheaper and will be easier for patients than the current testing. The study will be carried out at University Hospitals Birmingham NHS Trust. If successful the new method could benefit patients across the NHS.

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This project funded in partnership with Never Too Young.