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 tested a quicker way to diagnose inherited syndromes which 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 tried out a different technique to find genetic changes called Nanopore Sequencing, using 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 tested for the majority 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.

Results

So far, 130 patients have had their DNA sequenced using the new technique. It has successfully detected inherited conditions that increase the risk of bowel cancer, showing that it can do the same thing as the previous method, but much faster. It’s also identified some patients with genetic mutations linked to higher risk of other types of cancer, such as breast cancer.

The researchers have developed a custom computer tool to analyse the sequencing data and report on any genetic changes that affect cancer risk. This tool will be made available for other researchers to use as well.

What happens next?

If this technique is proven 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. Professor Beggs and his team are continuing to assess how effective it is, with plans to carry out a larger follow-up study.

The test is based on saliva rather than blood, so it’s cheaper and will be easier for patients than the current testing. 

The work is being carried out at University Hospitals Birmingham NHS Trust, but if successful the new method could benefit patients across the NHS.

This project was funded in partnership with Never Too Young.

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