Screening for Lynch Syndrome on all newly diagnosed colorectal cancers is recommended by several organizations and it is a Healthy People 2020 Objective. It is already performed in more than a hundred hospitals nationwide.
Impact of screening
- Referral of patients with abnormal screen results for genetic counseling and molecular testing for germline MMR mutations allows for diagnostic confirmation for the patient and accurate testing for family members.
- Identification of a CRC patient with Lynch Syndrome affects future screening for synchronous CRC and other Lynch Syndrome-associated malignancies.
- Evidence suggests a diagnosis of Lynch Syndrome may affect surgical and chemotherapeutic management decisions.
- First-degree relatives who test negative for the identified mutation are no longer at increased risk for CRC or other Lynch Syndrome-related malignancies, nor are their children at risk for Lynch Syndrome.
- Relatives who test positive for the familial mutation require colonoscopy every one to two years beginning at age 25, in addition to screening for non-colonic cancers.