Lynch Syndrome and Colon Cancer: Why Awareness Is Key

March is Colon Cancer Awareness Month, and March 22 is Lynch Syndrome Awareness Day. Another awareness month, you say? I can't possibly keep track of all of these months and days and causes! And what is Lynch syndrome anyway?

I was reminded on a flight last week why all of this awareness matters. I was sitting in the window seat flying home from the annual ACMG meeting in Tampa, when the gentleman next to me asked what I do for a living. A rather innocuous question with an answer I suspect he didn't expect: I'm a genetic counselor with an interest in cancer. Specifically, I'm concerned about identifying people who are at high risk for cancer and tend to develop cancer at early ages. I was at ACMG to present data on how we can make genetic testing and counseling more accessible. And that's when he shared with me that his daughter died from colon cancer in her 40s, leaving behind her husband and two young children. She was treated at a reputable cancer center in the Northeast, so he thought she had genetic testing, but he wasn't sure.

We've come a long way with hereditary breast cancer awareness. Thanks to Angelina Jolie Pitt's op-ed in the New York Times, many more people are aware of hereditary breast cancer and are pursuing testing for the BRCA1 and BRCA2 genes. According to a recent study, nearly 90% of women diagnosed with breast cancer under age 40 were tested for BRCA1 and BRCA2 mutations. While there's still work to be done (what about all those women diagnosed after age 40? Or women not seen in academic centers?), this is remarkable progress.

But what about hereditary colon cancer? The most common form of hereditary colon cancer is a condition called Lynch syndrome, which affects approximately 1 in 440 people in the United States. That makes it just as common as BRCA1 and BRCA2, but I bet you haven't heard of it. There's little attention or celebrity status given to Lynch syndrome. So here's what you should know:

Lynch syndrome significantly increases a person's risk for cancer.

Lynch syndrome increases the risk for colon, endometrial and ovarian cancers, among others. People with Lynch syndrome also tend to develop cancer at earlier ages than in the general population. Importantly, even if you only have a family history of colon cancer, a diagnosis of Lynch syndrome would mean you are at risk for other cancers too. This is why genetic testing is so powerful - it can help explain cancers that are present in your family, but also let you learn about your other risks, so you can pursue appropriate screening or other risk management options.

Genetic testing is available for Lynch syndrome.

There are five genes associated with Lynch syndrome - MLH1, MSH2, MSH6, PMS2 and EPCAM. If you have a family history of Lynch-related cancers, your insurance may provide coverage for genetic testing, but there are also affordable testing options available through many laboratories. However, genetic test results aren't black and white. A positive result doesn't guarantee you will develop cancer, nor does a negative result guarantee you will live cancer free. That's why it's important to discuss your results with your doctor or a genetic counselor.

If you are diagnosed with Lynch syndrome, you have options.

People with Lynch syndrome have many options available to them to manage the increased cancer risks they face. These options range from beginning screening at an earlier age and have screening performed more frequently, to taking medications or pursuing preventative surgery. While a diagnosis of Lynch syndrome might feel intimidating or downright scary, learning about your risk and taking steps to manage that risk has major advantages.

I will never know for sure if the daughter of the gentleman I met on the plane had genetic testing, but I hope that through awareness and education, I won't have to wonder the next time I hear this kind of story - genetic testing for hereditary colon cancer will be commonplace.