What is Lynch Syndrome? The Basics 

Lynch Syndrome is a genetic condition that affects approximately 1 in 279 people in the United States. Once thought to be relatively rare, it is now known that nearly 1 million people in the country are carriers of the gene. For individuals who carry this genetic mutation, the risk of developing certain cancers is significantly higher than for those without it. The most common cancers associated with Lynch Syndrome include colorectal, endometrial, ovarian, small bowel, urinary tract, and brain cancers, such as glioblastoma.

Lynch Syndrome is caused by a mutation in one of four genes responsible for repairing errors in our DNA. The genes most commonly affected are MLH1, MSH2, MSH6, and PMS2. When any of these genes malfunction, the body's ability to correct DNA mistakes is compromised, leading to a higher risk of developing cancer, often at a younger age than the general population. Among Lynch Syndrome carriers, the risk of developing colorectal cancer is between 40-80%, whereas the general population’s risk is only about 5%.

Recognizing Lynch Syndrome: Signs and Suspicion 

This condition is passed from parents to children, and if you have a family member with Lynch syndrome, there is a 50% chance the mutation will be passed on to their children. Unfortunately, Lynch Syndrome does not present with obvious warning signs. However, some possible indicators include developing colon or endometrial cancer before the age of 50, having a personal history of more than one type of cancer, or a family history of cancer, especially those linked to Lynch Syndrome, diagnosed before age 50.

Diagnosing Lynch Syndrome

If you have a family member who has been diagnosed with a cancer associated with Lynch Syndrome, it is essential to inform your healthcare provider, as they may recommend additional testing. Some tests your provider might order include tumor analysis, which is used when there is an active cancer. By sampling cancer cells and checking for the presence of specific proteins, doctors can sometimes determine if a cancer is linked to Lynch Syndrome. If certain proteins are missing, it may suggest the involvement of this genetic condition.

Microsatellite instability (MSI) testing is another option. This test examines specific segments of DNA for errors or instability, which can indicate Lynch Syndrome. Finally, genetic testing can directly identify mutations in the genes responsible for the syndrome, providing a definitive diagnosis.

Managing Lynch Syndrome 

Unfortunately, there is no cure for Lynch Syndrome. However, if you carry this gene, undergoing regular screenings is essential as early cancer detection greatly improves survival rates. In some cases, based on your risk factors, your doctor might recommend preventive surgery to remove organs that are especially susceptible to cancer associated with Lynch Syndrome. If preventive surgery is not an option, staying up-to-date on recommended cancer screenings is vital.

Key screenings for Lynch Syndrome include:

• Colonoscopies to detect colon cancer

• Ultrasound imaging of the uterus to detect endometrial cancer

• Ultrasound of the ovaries to detect ovarian cancer

• Urine tests to screen for urinary tract cancers

• Neurological exams to monitor for brain cancers

Your healthcare provider may also suggest additional screenings tailored to your personal and family history. As always, it’s essential to maintain an open line of communication with your healthcare provider, so don’t hesitate to express any concerns you may have with them.

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2. _{Eduardo Vilar-Sanchez, M. D. (2025, April 24). Lynch syndrome: 10 things to know about this genetic condition. MD Anderson Cancer Center. https://www.mdanderson.org/cancerwise/qa-understanding-and-managing-lynch-syndrome.h00-158589789.html}  

3. _{Mayo Foundation for Medical Education and Research. (2025, January 23). Lynch syndrome. Mayo Clinic. https://www.mayoclinic.org/diseases-conditions/lynch-syndrome/symptoms-causes/syc-20374714}