A pioneering genetic test is improving early diagnosis and treatment for people with hereditary cancer caused by a genetic condition. The test, developed with the help of Newcastle University scientists, identifies specific signs in a person’s DNA that are characteristic of cancers linked with Lynch syndrome.
Hailed as a “breakthrough,” 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. The work is published in the journal eBioMedicine.
‘Exciting breakthrough’
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 University and Newcastle Hospitals, led by 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 program.”
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 program 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 has been approved for rollout in other parts of the country.
Burn added, “These tests are 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 U.K. have Lynch syndrome but only around 12,000 have a diagnosis, meaning more than 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.
Publication details
Rebecca Hall et al, Detection of urothelial carcinoma in Lynch syndrome using microsatellite instability analysis of urine cell-free DNA, eBioMedicine (2025). DOI: 10.1016/j.ebiom.2025.105969
Journal information:
EBioMedicine
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