Scientific Publications

Categorized: Gastroenterology

The Mismatch Repair Gene Mutation Screening Program for Lynch Syndrome: Identifying Patients at Risk

The Inform Diagnostics DNA mismatch repair (MMR) gene mutation screening program for Lynch Syndrome was initiated in March 2010, with the objective of testing not only all newly diagnosed colorectal adenocarcinomas, but also high-grade precancerous polyps (adenomas with high grade dysplasia) and precancerous polyps (adenomas) in individuals less than 40 years of age. This program underscores our dedication to quality and leadership in patient care for GI pathology.

MMR deficiency in a patient with probable Lynch Syndrome.
This patient’s tumor is deficient for MSH6 and shows intact nuclear staining for MSH2.

In the first two years of the MMR screening program, we have seen a prevalence rate of probable Lynch Syndrome in:

  • 3.9% of patients with colorectal carcinoma
  • 2.1% of patients with high grade adenomas
  • 0.9% of patients with low grade adenomas in patients less than 40 years old

As of July, 2013 we had identified 360 people with probable Lynch Syndrome, who would otherwise be unaware. Be sure to view our archived webinar on DNA mismatch repair (MMR) gene mutation screening program for Lynch Syndrome.