Chek2 Gene Mutation: A Blessing or a Curse?
December 2019: Chek2 Genetic result: Positive – Clinically Significant Mutation Detected. HUH? I read those words on the document I received, confused, not understanding what they were trying to tell me.
Oh… Here, I see it: Interpretation: High Cancer Risk.
August of 2019: My gynecologist let me know that I was eligible to be tested for a new gene defect they’ve discovered based on my family and personal cancer histories. Why not, right? Sure… take my blood.
A few weeks later, they called to let me know that I needed to come in. That the results came back, and they needed to talk to me in person. That’s usually never good, so I did what any other normal, overwhelmed human would do. Ignore it. If I don’t go in, they can’t tell me anything; it will all just go away, right? Right…
Thankfully, my gynecologist, Dr. Kathryn White, didn’t let me ignore it and let me think it would just go away. Instead, her office kept calling and calling, and finally certified mailed me the results with a handwritten letter to PLEASE call their office to come in to discuss the results.
Looking back, I believe I went into shock reading the results. Seeing the large RED banner across the page that read:
GENETIC RESULT: POSITIVE – CLINICALLY SIGNIFICANT MUTATION DETECTED
NOTE: “CLINICALLY SIGNIFICANT” as defined in this report, is a genetic change that is associated with the potential to ALTER MEDICAL INTERVENTION.
Well… that sounds, um, terrible. Right? Yeah… as I kept reading, I realized this isn’t great news. I was surprised. Terrified, honestly. I put it down and walked away. Was I cursed? Why was this happening? Some of my worst fears seemed to be sitting in front of me, telling me they were on the brink of coming true.
The packet sat unread on my kitchen counter for days, but it would not be ignored. It glared at me when I refilled my water, it stared at me when I started dinner, and it would not stop. I surrendered, took a couple deep breaths and settled in to read it thoroughly. After reading the report, and crying a lot, I was ready to learn more and understand better. I finally called my doctor back to make an appointment.
What is Chek2 Anyway?
That was the question I kept asking myself. What is this? What does it mean? What cancer risks are we talking about here? Having a significant cancer history in my family, I was both curious and terrified to hear what this actually meant for me.
Technical: Chek2: a tumor suppressor gene that encodes the protein CHK2, a serine-threonine kinase. CHK2 is involved in DNA repair, cell cycle arrest, or apoptosis in response to DNA damage. Mutations to the CHEK2 gene have been linked to a wide range of cancers.
In layman’s terms: everyone has Chek2 in their DNA. Chek2 repairs damaged DNA, one of those damages being irregular cells or cancer cells developing in the body. However, for those who have the Chek2 mutation, that part of the DNA is damaged and therefore does not function as it should to repair damaged, irregular, or cancer cells. Combine that irregularity with a family history of cancer, and you have yourself a wildly high cancer risk.
Basically, when this gene is mutated, it doesn’t perform its function, and potentially cancerous cells can easily divide and reproduce.
How many people have this gene you ask? Yeah, I did too. Guess what. 1.5%. 1.5% of the human population tests positive for the Chek2 mutation. Man… those are some crazy odds.
What Cancers are Higher Risk with a Chek2 Gene Mutation?
I learned that with a Chek2 Gene mutation, you’re more likely to have a higher risk of:
- Breast Cancer
- Ovarian Cancer
- Prostate Cancer
- Colon Cancer
- Kidney Cancer
- Thyroid Cancer
- Brain Tumors
- And last, but not least… Osteosarcoma.
Is that all? 😉
What to do about a Chek2 Diagnosis? – My Curse Solution
With my family history, my personal risk of breast cancer is almost 50%. 50%! This was definitely something that took a long time to accept. I struggled and struggled with that number. 50%! I cried in my doctor’s office. I cried on the way home. I cried telling my husband. I cried and cried. The story I kept telling myself was that developing breast cancer is the same as waking up and flipping a coin. 50/50, right? Do I have it, or do I not? Followed by an “elevated risk” for colon cancer. I already had thyroid cancer. My mom had ovarian. My dad died of pancreatic. Aunts on both sides, and my grandmother had breast. So basically… the only cancer on this list that didn’t affect my family was kidney and brain. Whew… what a relief. <insert sarcastic laugh here>
Fast forward 6 months, stuck in this “Curse” mindset: I was becoming a crazy person. I couldn’t stop thinking that every pain, every twinge, every ache was cancer developing in my damaged body. I would wake up thinking about it. I would go to bed thinking about it. I would fast forward 10 years of my life, envisioning my family dealing with the after-effect that all these cancers were definitely going to inflict on my body. It was becoming obsessive. I had made it my story, my identity, my curse.
I met a good friend, Bernadette, in Memphis at an Airbnb during the summer of 2020 to attend the Tony Robbins Unleash the Power Within virtual seminar. We spent a week together, working through emotions, life’s challenges, and what we would do to better ourselves. Unfortunately, I was trapped in this curse mindset until my good friend snapped. She told me…
“Lisa… that is NOT your story. You have to stop constantly worrying about this and put your focus into something good.”
I’m thankful for friends who speak truth into your world, even when it’s hard to hear. This was hard to hear. I struggled not to think about it. I struggled not to worry every day that my body was developing one of these cancers. I struggled not to come up with stories of dying young and leaving my kids and husband behind. After all, my body already produced cancer. Why wouldn’t it again? I was completely focused on what had the potential to go wrong instead of focusing on what I could or should do to put the odds back into my favor for living a long, healthy, cancer-free life.
What to do about a Chek2 Diagnosis? – My Blessing Solution
After this realization, which not so ironically happened at the Tony Robbins Unleash the Power Within seminar, I decided to take action versus sitting with my fears. (PS. If you have never been to this, I HIGHLY recommend it)
I scheduled an appointment with an oncologist and put together a plan for the highest risk cancer, Breast Cancer. There are a few options for someone with a high-risk gene, such as this one.
- Monitor closely being checked every 6 months between mammogram and MRI.
- Take chemoprevention medications to attempt to lower the risk
- Remove the breasts surgically through a full mastectomy
I have opted out for number 2 altogether. I do not want to be on a medication that could potentially have other side effects if I can avoid it. So I’m currently in between options 1 and 3. I was scheduled for a full mastectomy in March of 2021, but honestly, I chickened out. Combine the fear of the surgery with an intense job change, and I moved back into option 1, which is to monitor it closely.
Why this CHEK2 Positive Mutation Diagnosis is a Blessing, not a Curse.
I made a conscious decision. I decided to look at the technology we have, the doctor’s awareness we have, and all the medical advances as a blessing. I get to decide. I get to be in charge of my health and be on the lookout for anything that might be alarming with the hope of catching it before it would ever get too bad, like the thyroid cancer I had in 2011 (read that story here). I was lucky with thyroid cancer, was blessed to listen to my body, to have doctors who listen to me, and to find it early enough that it was a simple fix.
I can make choices. I am lucky.
I can watch my intake. I can be aware of the foods that I put into my body. I can be aware of what carcinogens are out there and ensure that I’m consuming as little of them as possible. I can make great choices for vitamins, nutrition, and overall health in my food and fuel.
I can watch the products I bring into my home. I can make educated choices to reduce the number of toxins we use daily.
I can lower the usage of our microwave. Studies are still out, and it’s quite possible that the use of the microwave and the way it alters the chemical make-up of our food damages our cells (huh… DNA gene mutation? Makes sense)
I can watch the products I put on my skin. Simple swaps for things like sunscreen, lotion, skincare, and makeup can help fight the odds.
Living with Intention.
None of these things are hard. But they do take intention. Intentionally making choices that play towards the odds of fighting this versus feeding it. That simple change puts me in more power. I get to do things that are great for my health, for my family’s health, and for our futures. That’s empowering.
Instead of living every day in fear, I am choosing to see this as a blessing. Yes, that blessing comes with a myriad of tests each year (MRIs, colonoscopy, sonograms, mammogram, blood work, etc.), but I have the capability and the ability to perform these. Seriously… Lucky me!
Yes, “scanxiety” does kick in. With these scans coming about every two to three months, it can get to be a lot. I’m human. I’m not Superwoman. I know I will have bad days. I know that when those twinges, little pains, changes to my body happen, it still runs through my mind that maybe this is it. It is only human that these doubts creep in, but I know that I have the power to march the same doubts back out. The key here is learning to minimize the anxiety and to focus on the blessing. Focus on faith. Focus on the knowledge. Focus on the actions I can take. Focus on how fortunate I am.
More information:
For more information on the Chek2 gene, please see these articles. These helped me understand the diagnosis:
If you have been diagnosed and want to reach out and talk through it, please reach out to me. You can message me on the About page or DM me on Instagram.
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