Colorectal Patients Should be Tested for Lynch Syndrome

Study finds most patients with Lynch syndrome are unaware they have the syndrome.

Caregivers should recommend patients with colorectal cancer get tested for Lynch Syndrome, recent guidelines indicates.

Published in Gastroenterology, the official journal of the American Gastroenterological Association, the guidelines urge these patients to undergo tumor testing for Lynch syndrome, which is the most common inherited cause of colorectal cancer.

Approximately 30% of people diagnosed with colorectal cancer have a family history of the disease, with 5 to 6% carrying mutations that are diagnostic of a known inherited cancer syndrome. Approximately 700,000 Americans have Lynch syndrome, with children having an approximately 50% chance of inheriting the disorder.

The researchers noted that the majority of people with Lynch syndrome are unaware they even have it. Lynch syndrome involves a mutation in the MMR gene, causing the body to be less able to repair errors in DNA.

Not all people with Lynch syndrome go on to develop cancer, however people with the mutation are more likely to get certain types of cancer, with an 80% greater colorectal cancer risk and a 60% greater endometrial cancer risk.

"Approximately 50,000 Americans are expected to die from colorectal cancer this year, and hereditary syndromes account for a small, but important fraction of those diagnoses," said lead author Joel H. Rubenstein, MD, AGAF. "The majority of patients with Lynch syndrome are unaware that they have the syndrome. The AGA recommendation for tumor testing in all newly diagnosed cases of colorectal cancer to identify Lynch syndrome could be considered as a process measure to ensure that patients are receiving the highest quality of care."