← Return to Genetic testing...does anyone have the CHEK2 gene mutation?

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@californiazebra

Hi @deborahmontana
I'm very sorry to hear about your medical journey and frustration. I'll try to address some concerns/questions based on my experience.

As for conflicting test results 7 months apart, that could go either way. I had annual ultrasounds after my mastectomy and year 6 was still clear then just before my year 7 annual ultrasound I found a lump on my chest wall myself. I would like to think they would have found that two days later in my next ultrasound, but I'll never know. They did see it when I pointed it out. Did they miss anything the year before? Who knows? Lumps have to pop up and become visible at some point when they weren't before. I'm not a litigious person so rather than focusing too much on a possible past error, I just want to move forward and fix it now. I've experienced a lot of medical errors in my life and I just try to learn from them so I know what to watch for in the future or warn others about. I always hope if I can't benefit from my experience, maybe someone else can. Also, remember than an MRI can pick up things a mammogram can't. If you don't have confidence in your medical team, keep searching.

Like you, I didn't want more new breast cancer again and again since I am BRCA2+ and CHEK2+ so when I had stage 1, 7 mm breast cancer, I opted for the double mastectomy. That was good for 7 years. Like you, I wonder if the surgeon spread the cancer with the scalpel especially since she was defensive when discussing the recurrence, but again, the reason it spread doesn't change anything for me today. The recurrence popped up 3 years ago. Had surgery, radiation and am now on targeted meds forever to hold the cancer at bay for as long as possible. So far so good. I have chest, abdomen and pelvic CT scans every 6 months looking for changes. Other scans, brain, bone, PET were done initially and are repeated as needed based on any suspicious symptoms.

As for genetic testing for your daughter, check out color.com as that is where my surgeon told me to test my son when he turned 35. It was only $150 for a boatload of tests to determine cancer mutations, enzyme issues for metabolizing meds and cardiac mutations. I think it's $250 now. Their own doctors on staff can order the testing or you can use your positive test results to show why it is needed. My son has both the BRCA2 and CHEK2 mutations as well.

CHEK2 - my mutation was identified when I did additional testing 5 years ago when my son did his testing. My doctors didn't show much concern, but that may be because they had already known about the BRCA2 mutation for years and maybe they thought CHEK2 didn't add much more concern. Although if you read some of the CHEK2 threads on these boards, I've learned a lot about thyroid cancer risk and other stuff never mentioned to me. I believe the medical community is still trying to connect the dots on all the mutations and associated risks. The collective data will provide more insight with each passing year.

I can relate to all your pains, concerns, challenges and frustrations, but I'm still able to enjoy life despite the medical challenges. I believe you will too. Prayers for you in this battle to beat any cancer, have this all behind you soon and enjoy many more happy times in life.

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Replies to "Hi @deborahmontana I'm very sorry to hear about your medical journey and frustration. I'll try to..."

Hello Zebra

Thank you for sharing your experiences and thoughts.

Wow, both BRCA1/2 and CHEK2. I am so sorry that you and your son have tested positive for these. One is one too many.

I know there are several types of mastectomy: Radical, Skin and Nipple Sparing and more. Would you mind sharing the type of mastectomy which would allow for a mammogram?

There is also lumpectomy which removes the cancerous area, obtaining clean margins, which is what I had.

I had a BC counselor in 2014/5. She had just finished chemotherapy and radiation for BC. She had initially been told her biopsy revealed nothing of concern. A few days later she was told the pathologist was overwhelmed and all his work had been checked again by another pathologist, whose finding revealed cancer.

I went to high school with a really nice guy named Mike. Years later he needed knee surgery and they required an x-ray of his lungs before anesthesia. They didn't take notice lung cancer. A year or so after a successful knee surgery, he was diagnosed with Stage IV Lung Cancer. When the old x-ray was looked at, it was clear the cancer was very small and had it been discovered was likely treatable. He died leaving a wife and children. I believe it is important that people in the medical field take time to do their job. It's not about being "litigious."

Lump/tumor & Oncotype: Some cancer cells are more aggressive than others. I may have mentioned that my original tumor (3cm - 2014) was sent to the company (OncotypeDX) and received a 50+ number. Were either of your tumors submitted for this? IF the second tumor you found was aggressive, I wonder if it would be possible to go from undetectable to a small lump/tumor. It could be that we both have experienced the same thing - Thankful for layered scans and radiologists who care. The combination are saving lives - which include ours.