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The Lynch Syndrome Gene - What Is It + Why Should You Care?

Did you know that 1 in every 279 individuals is affected by the Lynch Syndrome gene, and 95% of those people don’t even know it? 

Those are staggering statistics given that the Lynch Syndrome gene is associated with so many cancer types. My goal is to raise that awareness level, so today I’m sharing all about what Lynch Syndrome is and my personal journey with it, in hopes that fewer people have to go through what I did.  

A DNA strand in blog post about the Lynch Syndrome gene

What is the Lynch Syndrome Gene?

The Lynch Syndrome gene increases a person’s risk of developing several different types of cancer. People with Lynch Syndrome are also more likely to get cancer at an earlier age. The types of cancers associated with Lynch are: 


  • Colon and Rectal cancers

  • Endometrial and Ovarian cancers 

  • Stomach cancer 

  • Small Bowel cancer 

  • Pancreatic cancer

  • Prostate cancer

  • Brain cancer 

  • Gallbladder cancer 

  • Liver cancer

  • Skin cancer

  • Urinary Tract cancer

A Brief History of Lynch Syndrome

Lynch Syndrome was initially noticed for the first time in 1913 by A.S. Warthin, a pathologist at the University of Michigan. He took an interest in his seamstress who was concerned about the history of cancer in her family. He gathered information about her family tree and proposed that there may be a genetic explanation. 

In 1966-67, Henry Lynch picked up on Warthin’s observations and invited the extended family of the seamstress to gather for a family reunion, where he obtained detailed medical histories of the family members. He found that many of the family members had cancers of the stomach, colon, and uterus. He used the term Cancer Family Syndrome to describe his hypotheses. 

Further research was conducted in the 1970s and 80s and at that time the term Lynch Syndrome was first documented. Before that, the other term used to describe it was Hereditary Non-Polyposis Colorectal Cancer (HNPCC). 


Then in 1993, a consortium of Johns Hopkins doctors made a discovery that was a significant clue regarding the basis of the disease. They identified microsatellite instability. After that, research into the human homologs of genes began to identify genetic sequences. As of now, 5 genes have been identified to be associated with Lynch Syndrome. They are MLH1, MSH2, MSH6, PMS2 and EPCAM.

Determining Your Risk for the Lynch Syndrome Gene

The Dana Farber Cancer Institute in Boston has an excellent tool for determining a patient’s risk level for developing Lynch. It is called the PREMM 5 Model, and I encourage you to access it here!

My Experience with Lynch Syndrome 

My Lynch journey actually began with my mother, Carol. She had colon cancer in 1987 and at that time, doctors were not testing for Lynch. She had her second diagnosis of colon cancer in 2003. She was tested for Lynch at that time and tested positive for the MLH1 variant. Her third bout of colon cancer was in 2015 and she did not survive it. 

Because of my mother’s history, I began getting regular colon screenings in my 30s and was very diligent about staying current with my gynecological screenings every year.  I exercised daily and ate a very healthy diet. I felt that I was doing everything “as if” I may have the gene.

However, despite my careful attention to my health, I was diagnosed with Endometrial Cancer in 2013. I had a radical hysterectomy, radiation, and brachytherapy. I was tested for the MLH1 Lynch variant and tested positive. My children were also tested and one tested positive and the other was negative. 


My ongoing surveillance involves an annual colonoscopy, a biannual endoscopy, a dermatology skin check twice a year, an annual urinalysis, oncology visits twice yearly, and regular bloodwork. This has taken its toll physically, emotionally, and financially. In hindsight, I wish that I had more active advice from my medical doctors before my diagnosis, and would like to see fewer people have to go through what I did.

You can read more about my journey with cancer and how that led me to coaching in my Bio

My Advocacy Goal 

Since my cancer diagnosis, I have encountered many people in the medical field and in the general population that have never heard of Lynch Syndrome. I was shocked that many of the medical professionals I have interacted with were not familiar with it. I found myself having to educate people about it. I found myself wondering how we could be preventing the incidents of Lynch-related cancers if the doctors don’t even know what it is!

So, my goal is for doctors, especially Primary Care Providers, to be more familiar with Lynch Syndrome and to recognize when to test for the gene. Spreading awareness is key, and knowledge is power! 

Cancer Coach 

In addition to my goal of spreading awareness around the Lynch Syndrome gene, my goal through my work is to utilize my experience with cancer to help support others who are going through something similar. Visit my recent blog post here to learn all about Cancer Coaching and if it is something for you. 

Cathy Nobil-Dutton, Cancer Coach, with a client


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