A pioneering genetic test, developed by doctors and scientists in Newcastle, is improving early diagnosis and treatment for people with hereditary cancer caused by a genetic condition.
The test known as the Newcastle MSI-Plus assay identifies specific signs in a person’s DNA that are characteristic of cancers linked with Lynch syndrome.
Hailed as a ‘breakthrough’ by scientists, the test can now be used on a urine sample from people with Lynch syndrome to identify difficult to detect cancers in the urinary tract – which includes kidney, bladder and ureter – before any symptoms are apparent.
Cancer of the urinary tract is one of the most common in people affected by the genetic condition, and without early detection treatment is less likely to be successful.
The test has been designed by a team from Newcastle Hospitals and Newcastle University, led by consultant clinical geneticist and professor of clinical genetics, Sir John Burn.
He said:
“This is a really exciting breakthrough – the pilot study results are unprecedented. In our study, the test detected early-stage cancer in five people, four of those hadn’t yet showed any symptoms.
“This early diagnosis has meant less invasive treatment for these patients, and the test has also guided the medical team as to whether they have successfully removed all of the cancer and also how to carefully target treatment.
“We’re now looking to carry out larger studies to validate these results, with a view to establishing a life-saving Lynch syndrome urinary tract cancer surveillance programme.”
The Sir Bobby Robson Foundation, part of Newcastle Hospitals Charity, which has provided £74,000 of funding towards a larger trial.
The development of the urinary tract cancer test follows the established success of the same test to identify Lynch syndrome in people with bowel cancer.
Testing in bowel cancer patients informs their treatment plan and, if they are found to have Lynch syndrome, also means their families can be offered the same genetic testing, meaning they can be put on a proactive screening programme which can detect bowel cancer at an early stage and lead to timely treatment.
This test is currently used to screen bowel cancer patients in the north east and north Cumbria and beyond, it has been approved for wider use.
“This test is changing the lives of people living with this genetic condition, enabling more effective screening, monitoring and pinpointing the most tailored and effective treatment for certain cancers.”
Around 150,000 people in the UK have Lynch syndrome but only around 12,000 have a diagnosis, meaning over 90% are unaware of their heightened risk of some types of cancer and miss out on life-saving monitoring.
Anyone with a family history of colorectal cancer can ask their GP to refer them for a Lynch syndrome test.
Last year, the team won an award from Cancer Research UK, in recognition of their impact in transforming diagnosis for patients.
Making a difference for those with lived experience
Carol Coughtrey has Lynch syndrome and like many people with the condition, she has had several cancers – the test has given life-saving early warning.
The 75-year-old mother-of-one of Holywell has had bowel and urinary tract cancer and preventative treatment for the risk of ovarian cancer developing, as a result of Lynch syndrome.
After being tested for the Lynch gene, she is regularly monitored with tests and scans and has undergone numerous life-saving operations and treatments.
Carol was invited to take part in the pilot north east study led by geneticist Professor Sir John Burn and scientists at Newcastle Hospitals and Newcastle University into the detection of urinary tract cancer.
“Unfortunately, but also fortunately for me, the test showed a signal of kidney cancer. The tumour was quite large and I never had any symptoms.
As part of the pilot study Carol has continued to provide urine samples through a specially designed postal service and the test detected a second cancer.
“After the kidney cancer, the test showed a cancer signal, and they found I had bladder cancer which again was in its early stages showing no symptoms.”
Carol had her kidney removed in October 2023 and the following year had a procedure to remove the bladder cancer for which she has continued to have treatment for at home.
Whilst attending for regular follow up monitoring, a kidney scan picked up a tumour in her lung.
“The team have definitely saved my life. I think they are marvellous and I can’t thank them enough,” she said.
“The test has picked up two urinary tract cancers which without detection would have spread. Then the monitoring scans picked up lung cancer which again would have grown without me knowing it was there, so I am very lucky.
“I always put my trust in my doctors, surgeons and nurses. You can’t give up, it is all part of life so you have to keep fighting and stay positive.
Carol first had bowel cancer in the mid-nineties and three months of treatment followed.
When she was diagnosed with same cancer for a second time the following year, she was referred to the genetics team at the time and had a blood test which indicated Lynch syndrome.
Once this was confirmed, her daughter Nicola, 52, was also tested – because of the hereditary nature of Lynch syndrome – and found to have the condition.
“I was all for being tested, I felt very positive and I didn’t have any reservations,” said Nicola. “I’ve since had a hysterectomy to prevent the possibility of developing ovarian cancer in the future and I’m now under regular monitoring and procedures.
Carol also underwent a preventative hysterectomy after developing ovarian cysts. She has had breast and skin cancer, the latter is related to Lynch syndrome.
“We are both very grateful to have had the test which has brough with it the knowledge and life-saving treatment.
The test for lynch syndrome in people with bowel cancer is now available for use, the test for detecting urinary tract cancers in people with lynch syndrome is available for research – discover more on our commercial products page.
