Genetic Test Aids Early Detection and Improved Treatment for Cancers

Lynch syndrome is a hereditary genetic condition that significantly increases the risk of several cancers, including those of the bowel and urinary tract. Urinary tract cancers—affecting the kidney, bladder, and ureter—are among the most common in people with the condition, yet they are often difficult to detect early, and treatment is less successful once symptoms develop. In the UK, around 150,000 people are estimated to have Lynch syndrome, but more than 90% remain undiagnosed and miss out on life-saving monitoring. Now, a new genetic test is capable of identifying characteristic DNA changes linked to these cancers at an early stage, enabling earlier diagnosis and more targeted treatment.

Researchers at Newcastle University (Newcastle upon Tyne, UK) have developed the test to identify specific DNA signatures associated with cancers caused by Lynch syndrome, building on previous work in bowel cancer screening. The new application allows the test to be performed on urine samples from individuals with Lynch syndrome. By analyzing DNA shed into urine, the approach enables detection of early urinary tract cancers before symptoms appear, offering a non-invasive surveillance method for high-risk patients.

In a pilot study published in eBioMedicine, the test detected early-stage urinary tract cancer in five individuals with Lynch syndrome. Four of these patients had not yet developed any symptoms, highlighting the test's ability to identify disease at a pre-symptomatic stage. Early diagnosis enabled less invasive treatment and helped clinicians determine whether all the cancer had been successfully removed. The test also guided tailoring further treatment strategies, demonstrating its potential role in precision monitoring and care.

The urinary tract cancer test builds on the established use of the same genetic approach in bowel cancer patients. In bowel cancer, testing informs treatment decisions and identifies individuals with Lynch syndrome, allowing family members to undergo genetic testing and enter proactive screening programs for early detection. Researchers now plan larger validation studies to confirm the findings and aim to establish a dedicated urinary tract cancer surveillance program for people with Lynch syndrome. The test may significantly improve early cancer detection and expand access to targeted monitoring for individuals with inherited cancer risk.

“This is a really exciting breakthrough - the pilot study results are unprecedented,” said Sir John Burn, professor of clinical genetics, who led the research team. “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.”

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