FIT Testing for Colorectal Cancer Screening in People with Lynch Syndrome

About the Study

This study is testing whether a simple stool-based test called the fecal immunochemical test (FIT) can help identify people who may need a colonoscopy while reducing the burden of frequent screening. This study will compare FIT results with colonoscopy findings in people with Lynch syndrome. 

Researchers will evaluate:

• How accurately FIT detects colorectal cancer and advanced colon polyps in people with Lynch syndrome.
• The sensitivity, specificity, positive predictive value, and negative predictive value of FIT stool tests.
• Patient attitudes toward and acceptance of this noninvasive screening method.

What the Study Involves

Participants will:

• Complete a FIT stool test that checks for blood in the stool.
• Continue to undergo their planned screening colonoscopy.
• Provide stool, blood, and urine samples.
• Complete questionnaires about their experiences and preferences related to screening.

People may be eligible if they meet all of the following requirements:

• Are younger than age 80.
• Have a confirmed inherited mutation in a Lynch syndrome gene (MLH1, MSH2, EPCAM, MSH6, or PMS2)
  • Are age 20 or older with a mutation in MLH1, EPCAM or MSH2.
  • Are age 30 or older with a mutation in MSH6 or PMS2
• Are scheduled for a routine surveillance colonoscopy.
• Have at least 20 cm of colon remaining if they have previously had colon surgery.
• Are willing to provide stool samples and complete surveys.

People are not eligible if they have any of the following:

• Have had a total or subtotal colectomy
• Have inflammatory bowel disease
• Are pregnant
• Have an active cancer diagnosis