Lynch Syndrome: A Common and Underdiagnosed Genetic Risk for Colorectal Cancer

By Guest Writer - March 19, 2021

Sarah Burke, MS, CGC

Lynch syndrome is the most common genetic predisposition to cancer that most people have never heard of. It is thought that about 1 out of every 280 people are born with Lynch syndrome, but up to 90% of people with this condition are completely unaware of their diagnosis. That means hundreds of thousands of Americans are potentially missing out on important medical care. 

To help raise awareness and recognition, March 22 has been declared Lynch Syndrome Awareness Day.

Those with Lynch syndrome are predisposed to have higher chances of developing several cancer types, with colon and rectal cancers being the most common. The risks of stomach, small intestine, pancreatic and bladder cancers are also higher. Additionally, women with Lynch syndrome are at increased risk of gynecologic cancers, including uterine, endometrial and ovarian cancers. Affected people are more likely to develop cancer at younger ages and may develop more than one type of cancer in their lifetime.

Identifying those with Lynch syndrome is critical to helping them be more proactive about their cancer risks. They may start cancer screenings at an earlier age than recommended, undergo cancer screenings for rarer tumor types that they would otherwise not receive or even consider preventative surgery. In general, being aware of cancer risks can help prevent disease or catch it at an earlier, more favorable stage.

Lynch syndrome is a hereditary condition that runs in families and happens when certain gene mutations are passed on to new generations. Knowing your family medical history is an important first step in determining your risk.

Lynch syndrome is now diagnosed with a genetic test that can be performed with a blood or saliva sample. It is encouraged to talk with your doctor or a genetic counselor about genetic testing if you have a family history of colon cancer. It is also important to test people who have or already had cancer because it can help with their future medical care and identify their at-risk family members, like children or siblings.

Screening and advances in treatment have significantly improved the outcomes for those with colorectal cancer. Moffitt Cancer Center houses a specialty GeneHome clinic that routinely follows individuals with Lynch syndrome to provide expertise and access to the important cancer screenings they need.

Written by Sarah Burke, MS, Certified Genetic Counselor


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