Last Updated: January 28, 2019
This article is part of a series created to highlight hereditary cancer syndromes and other genetic predispositions to cancer. Here’s Cindy‘s story of living with a CHEK2 mutation. You can find her @SpannerinMe or on her blog.
Genetic Counseling Note: Having a mutation, also known as pathogenic variant, in the CHEK2 gene is known to moderately increase the risk to develop breast, colon, prostate, and other cancers. A CHEK2 mutation can be inherited from either parent (autosomal dominant) and passed to both sons and daughters. There are several options for cancer surveillance and risk reduction. The level of cancer risk, whether other cancers may also be linked with CHEK2 mutations, and the best medical management options for people with CHEK2 mutations are actively being studied. Genetic counseling for individuals considering CHEK2 testing, or who have been found to have a CHEK2 mutation, is highly recommended because cancer risks and medical management options for those with a CHEK2 mutation should be tailored based on test result and personal/family medical history. It is also important to stay updated. New research can lead to new information and management guidelines.
Tell us a little bit about yourself
I work for the State of Texas and am a mom of three. After becoming an empty nester, I decided to sell my house and downsize. This was a really big decision for me and required a lot of work on my part to sort through a lifetime of possessions and memories. In the midst of this big transition, I found a lump in my breast. This was a little more than a year ago.
How did you learn you have a CHEK2 mutation?
I found a lump in my breast and I called my doctor the next day. After exams, imaging, and a biopsy, I was diagnosed with an invasive lobular breast cancer. A follow-up MRI detected other satellite lesions. I was able to see a genetic counselor quickly and genetic testing revealed that I carry a CHEK2 mutation. The combination of the satellite lesions, the genetic mutation, and concerns about detecting a possible future lobular breast cancer helped me make the decision to have a bilateral mastectomy with DIEP flap reconstruction. My decision was also motivated by my desire to put the whole experience behind me – both the surgical aspects and the risks of a future second breast cancer (although I understand not much is known about the risks for a second breast cancer in CHEK2 mutation carriers).
I’ve really been really blessed with great health all my life and my diagnosis was my first real experience with the medical system. It was a bit terrifying at first, but it wasn’t as bad as I thought it would be. One of the hardest parts for me was the small pieces of new information that came in: first, my diagnosis, then the MRI which showed satellite lesions, then information about the size of the tumor (larger than expected), then the CHEK2 mutation, then surgery and reconstruction, then learning that the final margins after surgery weren’t clear due to the proximity of the original tumor to the skin, I needed another surgery to get clear margins. As soon as I would digest the last piece of information and wrap my head around it – there was something else. When would it stop? I’m a worrier by nature, and sometimes the anticipation was the worst.
Although the surgery and recovery were hard, I was very reassured by everyone on my medical team – particularly my surgeon and plastic surgeon. I felt they were very capable and that I was in really good hands.
Tell us about your genetic counseling process
I’ve actually had genetic counseling and testing twice.
My first experience was based on my mother’s history of ovarian cancer. She was diagnosed with metastatic ovarian cancer at age 56 and died shortly after her diagnosis. Based on this history, I pursed BRCA1 and BRCA2 testing in 2010, which did not reveal any mutations.
After I was diagnosed with breast cancer, it was recommended that I see a genetic counselor again. I loved my genetic counselor – she was knowledgeable and made me feel very comfortable. We discussed that since the time of my original testing new technology (large rearrangement testing) was added to BRCA testing. She recommended I consider this additional BRCA testing and a panel of other genes related to hereditary cancers.
When I learned that I carried a CHEK2 mutation, I felt a sense of relief because I’d finally found the ‘reason’ for the cancers in my family. Before my diagnosis, I had focused on my risk for ovarian cancer, since my mother had ovarian cancer. But breast cancer? I had breastfed all of my children and, in a way, felt I was ‘breast cancer-proof’. My diagnosis was a shock, and for me, finding the CHEK2 mutation gave me a reason that I’d developed breast cancer. And because of this, the genetic counseling and testing process was one of the most important and helpful parts of my journey.
My Genetic Counselor (Jackie Mersch, MS, CGC from UT Southwest Harold C Simmons Cancer Center), was my best resource. She made the information manageable and digestible. She helped me navigate a complex situation and decision-making process. She also told me about an Annual DFW Hereditary Cancer Patient Conference that is held in Dallas for individuals with a mutation related to hereditary cancers. I attended this conference and found it amazing to be around others also dealing with a genetic diagnosis. I will definitely go again.
Did you inherit this mutation from your mother or father?
Since my mother is deceased, my genetic counselor recommended that my father be tested to help determine from which side of the family the mutation originated. If he tested positive, we could be sure it was from his side. My father is in his 80s and was not interested. There are several relatives with breast and prostate cancer on my father’s side of the family, so it’s possible it was inherited paternally. My genetic counselor put together a letter for me to share with my other family members. After sending the letter to my paternal relatives, I heard nothing but crickets. No one wants to talk about this mutation, and no one is interested in being tested. I’ve always viewed my family history and genetic information as another tool – knowledge is power – I believe that. It empowered me, helped me make treatment decisions, and guided how I should be followed going forward (for example, I now have more frequent colonoscopies than the standard 10 year interval). I’m sure it could be helpful for other family members, if they’d be willing to explore it.
What lead you to create your blog?
I started my blog after I was diagnosed with breast cancer. I felt like a wrench was thrown into my life, and my blog has been cathartic for me to work through my thoughts and feelings. It makes what I’m going through manageable and helps reduce my anxiety. I am also hopeful that by documenting my experience it might be helpful or ring true with others who have similar experiences. Looking back, I can see that I was a bit naive about cancer. I didn’t understand that breast cancer could be deadly even if detected early, and thought people who died from breast cancer had not had their mammograms. I know differently now. I am hopeful that with more research in genetics and other areas, that will no longer be true.
It has also opened my eyes to work that others are doing. I applaud the groups doing research and those who raise money that goes directly to research.