Making Universal Screening for Lynch Syndrome a Reality: The Lynch Syndrome Screening Network

Every day, about 400 people in the United States are diagnosed with colorectal cancer. Approximately twelve of them have Lynch syndrome, a hereditary condition that increases the risk of colorectal cancer and other cancers.  Identifying people with Lynch syndrome could have substantial health benefits for them, their families, and communities.  

Lynch syndrome is the most common hereditary cause of colorectal and endometrial cancer; it also leads to increased risks of ovarian, pancreatic, and several other cancers, which often occur at a younger than average age.  Lynch syndrome occurs among men and women in all ethnic groups in the United States. A diagnosis of Lynch syndrome offers an opportunity to 1) enhance cancer prevention and screening measures for patients and families, 2) prevent cancer or detect it earlier, and 3) save lives and is cost-effective.

In 2009, the Evaluation of Genomic Applications in Practice and Prevention Working Group published an evidence-based recommendation that every person newly diagnosed colorectal cancer should be offered screening for Lynch syndrome to identify opportunities to reduce morbidity and mortality in their relatives.

Lynch syndrome screening is performed by analyzing tissue from the person with colorectal cancer for specific pathologic features.  If the results suggest the possibility of Lynch syndrome, the affected person is offered genetic counseling and additional testing.  Offering screening to all newly diagnosed colorectal cancer patients—regardless of age, ethnicity or family history—is termed “universal screening.” This approach supports an objective of Healthy People 2020, which is to:

‘Increase the number of newly diagnosed colorectal cancer patients who are screened for Lynch syndrome’

In September 2011, a group of 37 dedicated people from leading cancer institutions created the Lynch Syndrome Screening Network (LSSN), with the goal of reducing the cancer burden associated with Lynch syndrome.  LSSN has already received more than 80 institutional applications for membership.  More than half of the applicant institutions have already implemented universal Lynch syndrome screening and the others are either interested or in the process. The LSSN will facilitate implementation of universal Lynch syndrome screening by promoting sharing of resources, protocols, and data. LSSN Founding members have already gathered existing educational resources and created a new database to monitor progress toward achieving the Healthy People 2020 objective for Lynch syndrome.

Each first-degree relative (parent, sibling, or child) of a person with Lynch syndrome has a 50% risk of carrying the gene mutation and should be offered genetic counseling and testing. Relatives of a person with Lynch syndrome who are not found to have the gene mutation for Lynch syndrome will typically have the same risk for colorectal cancer as the general population, and their children will not be at risk for Lynch syndrome. Family members who are found to have the gene mutation for Lynch syndrome can be offered earlier and more frequent screening for colorectal and other cancers. Because these people can pass the gene mutation on to their children, the children should also be offered testing after reaching adulthood.

Genetic testing in family members of persons with a Lynch syndrome gene mutation is called “cascade testing.”  Cascade testing will allow the Healthy People 2020 objective to achieve population health impact by preventing additional cancers in family members.

March is National Colorectal Cancer Awareness month. This month, increasing awareness of Lynch syndrome is especially timely, as the importance of collecting and sharing information regarding family history of colorectal cancer is being promoted throughout the United States (Colon Cancer Alliance ; Family PLZ).  People with an immediate family member diagnosed with colorectal cancer should share this information with their health care providers, so that screening for Lynch syndrome can be considered.

Lynch Syndrome International is promoting March 22, 2012, as LYNCH SYNDROME PUBLIC AWARENESS DAY. To learn more, please visit Lynch Syndrome International Home page ( or the Lynch Syndrome Hereditary Cancers Public Awareness page or  LSI on Facebook)