“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 Joel H. Rubenstein, MD, AGAF, lead author of the guideline, research scientist at the Veterans Affairs Center for Clinical Management Research and associate professor, division of gastroenterology at the University of Michigan Medical School. “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.”
AGA developed the guideline using Grading of Recommendations Assessment, Development and Evaluation (GRADE) methodology and best practices as outlined by the Institute of Medicine.
Colorectal cancer is the second leading cause of cancer death in the U.S. Approximately 30 percent of persons diagnosed with CRC have a family history of the disease, and 5 to 6 percent have mutations that are diagnostic of a known hereditary cancer syndrome. Lynch syndrome is the most common inherited cause of colorectal cancer. Approximately 700,000 Americans have Lynch syndrome, and children have about a 50 percent chance of inheriting the disorder. However, the majority of people with Lynch syndrome don’t know that they have it. People with Lynch syndrome have a mutation of the MMR gene, which means that their bodies are less able to fix errors in the DNA. While not all people with Lynch syndrome will develop cancer, a person who has the mutation is more likely to get certain types of cancer, including an 80 percent higher risk of colorectal cancer and a 60 percent higher risk of endometrial cancer.