The American Gastroenterological Association (AGA) has set forth new guidelines that all colorectal cancer patients should be screened for Lynch syndrome. This rare condition accounts for about 1 in every 12 cases of colorectal cancer in individuals under the age of 50. Caused by a genetic mutation, Lynch syndrome increases the risk of cancer of the colon, liver, brain, uterus, or ovaries in adulthood.
Most cases of colon cancer are not hereditary, but continued research can greatly benefit the fraction of colon cancer cases that are genetically linked. The AGA estimates about one-third of colorectal cancer patients have a family history of the disease. Lynch syndrome affects about 700,000 Americans, making it the most common inherited cause of colorectal cancer.
One of the most challenging aspects of Lynch syndrome is that it is so difficult to diagnose, and the only way to do this is through biopsy. Tumors can be tested for lynch syndrome by immunohistochemistry (IHC) or for microsatellite instability (MSI). According to the AGA, Lynch syndrome tumors register high MSI.
If Lynch syndrome is diagnosed, there are many ways that doctors and patients can work together to be vigilant in monitoring for cancer. Doctors can offer many options such as:
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, stated in a press release, “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” (Source: MD).