Lynch Syndrome: Explained

What are the Lynch Syndrome genes, and what conditions are they linked to?

Lynch syndrome is the most common cause of hereditary colorectal cancer. [1] Lynch syndrome can also increase the risk of other cancers, including:

• Stomach

• Liver

• Kidney

• Brain 

Women also have an increased risk of developing endometrial and ovarian cancers.The genes MLH1, MSH2, MSH6, PMS2, and EPCAM are involved in fixing mistakes that may happen during the process of copying our DNA, helping to prevent Lynch syndrome-associated cancers. Mutations in these genes stop this process from working properly. [1]

Why is it helpful to understand if you have variants in these genes?

If you have a Lynch syndrome mutation, you should speak with your healthcare provider and genetic counselor for guidance as soon as possible.

Genetic testing can be a powerful tool to help you and your healthcare provider understand your unique genetic predisposition. You can use this knowledge to work with your provider and genetic counselor to better understand your risk together with other risk factors such as age, family history, and lifestyle factors. This can help you create the best screening and surveillance plan.

Prevention plans may include: [2,3]

• Earlier and more frequent screening

• Positive diet and lifestyle changes, such as stopping smoking and increasing exercise.

• Using specific medicines that may reduce your risk of cancer.

A positive result is also very important for your entire family. It is likely that some of your family members also carry the change. Your family members may undergo genetic testing to understand their unique risks. 

It is important to let your family members know your results. They can then talk to their providers to make their plans. With LetsGetChecked's family cascade testing service, your family members can also take the myGeneticScreen test to help determine their risk.

Let’s recap

• Lynch syndrome is the most common cause of hereditary colorectal cancer, and can also increase the risk of other cancers, including endometrial cancer in women.

• People with Lynch syndrome may have up to an 80% lifetime risk of colorectal cancer. If you are a woman with Lynch syndrome you may have up to a 60% lifetime risk of endometrial cancer. Exact cancer risks vary by Lynch syndrome gene.

• Even if you never develop a Lynch syndrome-related cancer in your lifetime, you still have it and can pass this condition to your children.

• If you have a Lynch syndrome mutation, please inform your healthcare provider and genetic counselor as soon as possible, so that together you can create the best plan for prevention or future treatments. 

• Genetic testing can be a powerful tool to better understand your risk, together with other risk factors such as age, family history, and lifestyle factors. 

• Any results that you receive are also very important for your entire family, and may also impact their healthcare. With LetsGetChecked’s family cascade testing service, your family members can also take myGeneticScreen to help determine their risk.

• Even with a negative result, you should continue to monitor for any changes in your general health, and attend screening appointments as recommended.