On March 22, communities around the world will recognize Lynch Syndrome Awareness Day. While some may scoff at the multitude of “awareness” events throughout the year, this may be one that could have wide-ranging benefits.
We’ve learned that this hereditary genetic mutation (LS), also known as hereditary nonpolyposis colorectal cancer (HNPCC), may be the cause of a higher percentage of colorectal and other cancers than previously thought. Approximately 3 to 5 percent of all colorectal cancer cases can be traced back to LS. And it’s estimated that 600,000 to 800,000 people in the U.S. may have LS, but only 5 percent are ultimately tested and diagnosed with the syndrome.
This year it seems especially fitting to recognize LS Awareness Day as the National Comprehensive Cancer Network, a group of 25 of the world’s leading cancer centers, announced a recommendation at their annual meeting that nearly all patients diagnosed with colorectal cancer should be screened for LS. (There is an option to forego testing on patients older than 70 who do not have other risk factors.) The recommendation is included in the latest set of clinical guidelines issues by the NCCN. You can view the guidelines here, but access requires site registration, which is free.
Because people diagnosed with LS have an 83 percent chance of colorectal cancer, it’s important that testing be done early so they can take advantage of preventive measures to reduce their risk of cancer, such as increased screening, surgery or chemoprevention drugs. LS can also greatly increase the risk of bladder, pancreatic, gastric, ovarian and other cancers. For patients who have been diagnosed with cancer, a confirmation of LS can help guide treatment, follow-up and surveillance for other cancers.
Lynch Syndrome International is keeping a running track of events around the world and the U.S. on its Facebook page to help spread the word. In response, the awareness of LS has brought about a conversation that could have as much impact as the “Katie Couric Effect” had on colorectal cancer screening.
A friend’s husband was recently diagnosed with colorectal cancer. Barely 40 and a family history of the disease, my immediate thought was Lynch Syndrome. It’s disappointing that LS screening wasn’t a priority for all patients with CRC earlier, as he could have been more closely monitored for the disease and preventive actions could have been taken. But screening for LS may still benefit him through treatment and survivorship, as well as his children and other family members.
To help learn more about LS, several studies are underway, including this one from the Ohio Colorectal Cancer Prevention Initiative. All patients diagnosed with colorectal cancer in Ohio will be screened for LS to help provide recommendations for high-risk individuals, as well as genetic counseling.