About Lynch Syndrome

Lynch syndrome (LS) is a hereditary syndrome that causes an increased risk of colorectal and other cancers. While most cases of colorectal cancer (CRC) are not considered hereditary, meaning you inherited a mutated gene from a family member, hereditary colorectal cancer is most commonly due to Lynch syndrome. Lynch syndrome is estimated to affect 1 out of every 279 individuals globally and 1 out of every 25-35 individuals with CRC. 

Individuals and many of their close relatives with mutations in the Lynch syndrome genes (called mismatch repair genes) are at very high risk for cancer. In addition to an increased risk of developing colorectal cancer, those with Lynch syndrome are at an increased risk of endometrial (uterine), gastric, ovarian, stomach, and pancreatic cancers, among others.

In general, hereditary cancer syndromes are characterized by cancer that occur at an early age, multiple cancers of the same type in one individual, multiple different types of cancer in one individual, multiple close blood relatives with the same type of cancer or with different cancers that are known to cluster in a hereditary syndrome.

People with Lynch syndrome need more frequent screening and surveillance and many of the associated cancers can be prevented or detected early. Unfortunately, most patients with Lynch syndrome are not aware of their diagnosis. 

“Lynch syndrome is the most common inherited cause of colorectal and endometrial cancer affecting 1 in 279 individuals. It is also very underdiagnosed with current estimates that ~90% of individuals with Lynch syndrome are not aware of their diagnosis. We all have to work together to improve the diagnosis of Lynch syndrome.”

Heather Hampel, MS, LGC, Fight CRC Medical Advisory Board and Genetics and Family History Advisory Council Member

Diagnosis of Lynch syndrome requires genetic testing. Many institutions now perform a screening test on all colorectal cancers and endometrial (uterine) tumors at the time of surgery. If you’re a CRC patient and not sure if this test was done, ask your oncologist. If you are a family member of a colorectal cancer patient and have not been diagnosed with cancer, ask your family members who have about their genetic testing results.

“Knowledge is power. If Lynch syndrome runs in your family, let family members know so that they can be tested and start recommended screenings. You might save someone’s life."

Jennifer Weiss, MD, MS, Fight CRC Genetics and Family History Advisory Council Member

Q&A with Brian Shawn, Voice of the Bison

Oftentimes, survivors learn they have Lynch syndrome after being diagnosed with colorectal cancer, but not in the case of North Dakota sportscaster, Brian Shawn.

What led you to get tested for Lynch syndrome?

Three to four years ago, my cousin in Arizona sent a message to our entire family about getting tested for Lynch syndrome, as she had tested positive and been diagnosed with colon cancer. I didn’t take it seriously at the time because my father had not been diagnosed with cancer. I kind of forgot about it. 

About 18 months ago, Sanford Health sent out a message about CHIP genetic testing and because it was freely offered, I thought, “Why not?” I was told I could get my blood drawn at any time and planned to do so after my busy sports season was over. But then, COVID-19 lockdowns took place and I never got it done.

Fast forward to mid-October 2020. I saw my doctor for an annual exam and bloodwork. I mentioned I never got my blood taken for the CHIP test so the nurses took two extra viles and sent it off for genetic testing.

In December, I got a call that I came back positive for Lynch syndrome. I later had an appointment with a genetic counselor who gave me a booklet to use to research my family health history. As I started to ask my other family members about cancer in our family, I found out that several of my aunts and uncles had various kinds of cancer, from colon to kidney, to breast and brain. I had never realized until then that my paternal grandfather died of colon cancer at age 33 and my dad’s brother died of colon cancer at age 22. Another paternal uncle also had colon cancer, went through surgery and chemo 15-20 years ago, and he lived into his 80s. He passed away due to other health complications. 

What were some of the emotions you felt when you learned you were positive for Lynch? 

I was definitely nervous, but hopeful nothing would be found when I got screened. I was shocked to see how much greater my chances were for colon cancer and other types of cancers. I just never thought I could have this issue because I have never experienced any other health issues in my life. 

I have come to accept I will need to undergo annual screenings for cancer the rest of my life, but I also have hope because my cousin with Lynch syndrome has been in remission for 16 years following her cancer diagnosis, surgery, and treatment. I am more concerned about getting my daughter tested as soon as it’s recommended and hope I have not passed this to her.

Although you knew you had a genetic predisposition, were you surprised to be diagnosed? Did you have any symptoms?

I was very much surprised to be diagnosed with cancer. I didn’t fully understand what was happening as I came out of the fog from the colonoscopy, but my wife was with me and explained the situation. The doctor was clear he had found a tumor. The reality of it hit me later that night and I realized I needed to get this taken care of quickly. 

The only symptom I had was a burning/cramping sensation in my lower abdomen from time to time for six or seven months prior to my colonoscopy. It would subside, and I thought it was from something I ate or some other infection. It would come and go, but it would not bother me for long stretches.

I had kind of wondered if something was wrong, but I didn’t think cancer would be the cause. I was wrong obviously and should have taken action sooner. That was a mistake on my part.

The announcement of your cancer also came with news that you'll be missing a few games. What has it been like to go public with your news and step away from your role for a short time?

Honestly, I was pretty hesitant to go public about this. I definitely wanted to wait until after my surgery was complete and I was home from the hospital so my family wasn’t bombarded with inquiries. And really, part of me wanted to keep it completely quiet, mention I needed a medical procedure, and I would return to work soon.

I did let my co-workers know, as well as some of my close friends and the Athletic Director at North Dakota State University. They needed to make adjustments for upcoming broadcasts and I felt it was important they knew why. Everybody was incredibly supportive before and after the surgery, many people called to check how everything went and how I was feeling. Ultimately, my wife and I felt going public and being transparent about my condition was for the best.

I wasn’t really excited about the prospect of having so much attention over this, but because of the story behind my diagnosis, we wanted to encourage people to get screened, dig into their family history, and look into genetic testing. If it saved one person from a cancer diagnosis or helped one family avoid a tragic situation, it was worth sharing what we have been through. 

Sitting at home and missing some of the biggest games of the year has been hard. In nine years, I had never missed a football broadcast, so missing the NDSU conference opener was a bummer. However, beating cancer is my number one priority and this is what I needed to do to give myself the best chance to wipe this out and live to call games for the next 20 years down the road.

What has been the response so far of you sharing your story?

Since opening up, we have received an unbelievable outpouring of support from our friends, co-workers, and even those we don’t know in the general public. It has been incredible and we feel very fortunate. We have received comments from many people that have signed up for genetic testing, people who are now going in for screenings, or those who are having conversations with their extended families about their health history. That was our goal.

Any advice for other people who may hear your story and be concerned they have a genetic syndrome and don't know it? What were some of your first steps into learning about it and getting tested? 

It’s important to be aggressive and not wait to feel unwell before looking into your health history. Don’t blow it off and assume you are fine and that you don’t need to worry about it. Get out in front of any potential health issues and save yourself, your family, and the stress. 

You may feel great, like I did, and not have a personal history of any health issues. But that can change in the blink of an eye. Don’t think that these types of situations only happen to other people. No one expects to have a genetic disorder or get cancer. I am a prime example of that. 

Reach out to your healthcare provider to find out what testing you can get done, what signs you need to look for, and also make sure to understand your family health history. There is no crystal ball, but there are tools to limit your risk. Use them!

We are the relentless champions of hope at Fight CRC. How do you stay relentless and what gives you hope? 

The most important thing for me is realizing that this is my life and I will do anything to fight for it. Many colon cancer survivors have sought me out to tell me their stories, explain what to expect in the coming months, and share how they have overcome the same adversity. I get a lot of hope from them and I also get tremendous strength from my wife, Jessica, and five year-old daughter, Amelia. They have been there for me and I need to beat this to be around for them. I have already made tremendous progress and look forward to the day I can say I am cancer free!

More about Lynch Syndrome and Family History

Resource Library:

• Learn more about Lynch syndrome
• Explore the Genetics Mini-Magazine for more information about hereditary CRC and screening guidelines

Blogs and Stories:

• From the Horse’s Mouth: Life with Lynch Syndrome
• Lynch syndrome and colorectal cancer survivor, Wenora Johnson: My Roles as a Research Advocate