Blood Biomarker Found for Lynch Syndrome Cancer Risk

University of Texas M. D. Anderson Cancer Center

HOUSTON, APRIL 6, 2026 ― Researchers at The University of Texas MD Anderson Cancer Center have discovered a new blood-based biomarker that can help identify and characterize asymptomatic people with Lynch Syndrome (LS) who are more susceptible to developing cancer based on early immune detection signatures, allowing clinicians to stratify patients based on their personal risk level.

The study, published in Nature Communications , was led by Eduardo Vilar-Sanchez, M.D., Ph.D. , chair ad interim of Clinical Cancer Prevention . The results advance our understanding of T cell responses in LS carriers, providing personalized insights for early cancer detection, monitoring and therapeutic interventions for these individuals.

"Providing a potential non-invasive blood test to track cancer risk and immune activity in patients with Lynch Syndrome is a tremendous step forward for this patient population," Vilar-Sanchez said. "These are valuable insights into immune responses that can help personalize the way we monitor and direct prevention strategies."

What is Lynch Syndrome and why did the researchers examine blood samples?

Lynch Syndrome is a hereditary condition involving mutations in the germline of DNA mismatch repair genes. People with LS have a genetic predisposition to develop cancers with microsatellite instability , especially colorectal and endometrial cancer , and they often develop cancers at a younger age than the general population. Having a way to understand an individual's level of risk for developing cancer could help clinicians offer appropriate surveillance and intervention to improve outcomes.

These microsatellite mutations, which result in insertions or deletions of DNA sequences, also create tumor-specific neoantigens. These neoantigens are protein fragments on cancer cells that T cells recognize as foreign, triggering an immune response. The researchers sequenced T cell receptors (TCR), which help T cells identify and attack threatening neoantigens on cancer cells.

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