Lynch Syndrome | Digestive Health Program | Loyola Medicine

Lynch Syndrome

Overview and Facts about Lynch Syndrome

Lynch syndrome is a hereditary disease that increases your risk of certain cancers. It most frequently leads to colon cancer or endometrial cancer, but carriers are also at risk for:

Experts estimate that up to 1 in every 300 people are carriers for the genes linked to Lynch syndrome.

Signs and Symptoms of Lynch Syndrome

Lynch syndrome doesn’t produce many noticeable health symptoms; in fact, you might not learn that you have it unless you receive a colon cancer diagnosis at an early age (typically before age 50).

Another sign that you have Lynch syndrome is a strong family history of colorectal cancer. You might have had a parent, sibling, or child who had a Lynch syndrome-related cancer before age 50.

Causes and Risk Factors of Lynch Syndrome

Lynch syndrome is a genetic mutation passed down to you from your parents. Scientists have identified changes to the following genes as catalysts for Lynch syndrome:

  • MLH1
  • MSH2
  • MSH6
  • PMS2
  • EPCAM

Because Lynch syndrome is an autosomal dominant gene, you have a 50 percent chance of getting the condition if one of your parents has it. If both of your parents have it, you have a 100 percent chance of inheriting it.

Tests and Diagnosis of Lynch Syndrome

Your doctor can get a good idea of your chances of having Lynch syndrome by looking closely at your family medical history. However, to confirm the diagnosis, they will perform a blood test to look for the mutated genes associated with Lynch syndrome.

Additionally, if you already have a tumor, the doctor can perform a screening to see if the cancerous tissue has the characteristics of Lynch syndrome. These screenings might include immunohistochemistry testing or microsatellite instability testing.

Treatment and Care for Lynch Syndrome

There is no real treatment for Lynch syndrome, as it is a genetic disorder with no cure. Therefore, you’ll need to schedule regular cancer screenings that might include:

  • A colonoscopy every 1 to 2 years, starting between the ages of 20 and 25
  • An upper endoscopy every 2 to 5 years
  • For women, an annual pelvic exam, ultrasound, and endometrial biopsy

To reduce your risk of certain cancers, you may also opt to have your ovaries, your uterus, or parts of your colon surgically removed.