Genetic testing...does anyone have the CHEK2 gene mutation

Hello! I have CHEK2. The standard of care is very helpful with the mammogram and MRI alternating every six months. This guarantees that you will almost never have a local breast cancer that has advanced too far. I was diagnosed Stage 1A, largely because of my MRI check-in. Also, there is a slightly increased risk of uterine and colon cancers, so you have to make sure you stay current with those screening procedures, as well.

I have it too.

In 2014 I was diagnosed with BC in my home state of Montana:
Left Breast 3cm IDC + LCIS
Lumpectomy (Frankenstein Scar and experience)
Chemotherapy: Taxotere + Cytoxan (sp?)
September 2014: Radiation Standard M-F

2014/15: Swedish Cancer Institute in Seattle took over my care (Dr. James Hansen). He ordered genetic testing which revealed I have a CHEK2 Mutation. At that time, the little bit of information known about CHEK2.

2014/15: Dr. Hansen found a suspicious area in my right breast. A lumpectomy and clips were implanted to mark the area.

Dr. Hansen Passed away... Unknown year (no disrespect as he was the kindest human being any patient could have hoped to have treat them).

New oncologist at Swedish continued with mammograms/3D Tomography/Bloodwork. Nothing significant...

About 2021: The oncologist retired and I was forwarded to a lovely young PA/Nurse Practitioner at Swedish. Continued Mammograms/3D Tomography/Bloodwork.

2022: Husband diagnosed (finally) with Autoimmune Encephalitis CASPR 2 by a wonderful neurologist in Wenatchee, Washington, confirmed (spinal fluid) by the MAYO CLINIC.

Late March 2023: Because it as difficult and expensive for me to travel to Seattle, I chose to have a new clinic where I live (Bozeman/Belgrade, MT) perform mammogram and their oncologist ordered a body scan where I drank contrast. Scan from neck to bottom. Both the mammogram and body scan were reported to be uneventful. A Breast MRI was ordered, but the "coil" (new clinic) had not been delivered and was "back ordered."

November 8, 2023: I underwent a Breast MRI w/wo contrast (IV). I had barely gotten home and a radiologist called. He said there were concerning areas near my nipple on the RIGHT BREAST. Of course, this was unexpected after 9 years from original diagnosis (LEFT BREAST).

Does it seem odd that I had a Mammogram in late March 2023 but report said both breasts were fine. Just 7 1/2 months later a Breast MRI immediately (less than 2 hours a radiologist was calling me) showed something "Suspicious" (per report) and a phone call. I can't help but wonder, was something missed in the late March mammogram? HOW do I ask without being a jerk?

I am now waiting for that clinic to organize a plan. I want a mastectomy on both sides - immediately. I don't want a biopsy (alone) because I am not a believer that cancer cells are not spread when they are stirred up. I believe they do mix with tissue and blood.

If Swedish Cancer Institute (Seattle) had the Mayo Clinic analyze my DNA, they would have my CHEK2 information.

Is there any help or guidance for people like me? I feel alone in a very large pond. I am also very traumatized (no exaggeration...) from my 1st diagnosis in 2014. In my opinion, the care I received locally in 2014, would stir up animal rights people or really anyone with a conscience, morals and ethics. My original (MT) oncologist who no longer works at that hospital TOLD ME the CHECK2 found by Swedish genetic testing was "insignificant" and I should not worry about it. So, I actually forgot about it until this evening.

My eldest daughter was tested at Swedish and tested Positive for CHEK2. My youngest daughter does not have employment with health insurance and has no means to be tested. Is there a study or some way to have her tested?

Sorry for this poorly written and emotional post. I appreciate any guidance, information or suggestions. DeborahMontana

I am not sure about the CHEK2, but a BREAST MRI will catch cancer that a mamogram misses. I was diagnosed with Invasive Lobular Carcinoma (ILC) in my left breast in July 2023 by a MRI with contrast. It was found "accidently". They were looking for a suspicious area which was seen on mamogram in my right breast (it ended up being calcifications). ILC is hard to find in the early stages with a mamogram because it grows in a line, not a clump. It is usually fould at later stages by mamogram. A contrast enhanced mamogram was ordered and it basically confirmed that I had cancer in my left breast. A biopsy was orderd- cancer was confirmed. I had a lumpectomy and 5 years of medication was ordered and 16 radiation sessions. I also wanted to have a double masectomy (DMX) but was told by my surgeon and nurse the chances of recurrence are the same. I can't get it through there heads that I'm not concerned about a recurrence, I'm worried about a completely different cancer showing up in the future. My husband was with me so he basically agreed with them I than agreed to have the lumpectomy. I had a small slow-growing tumor. Three months later I have just had a 6 month followup for the original right breast MRI distortions they saw 6 months ago. They are now saying there is something else in my Rt breast--an enhanced IMLN (intrammary lymph node) that needs looked at by MRI in another 6 months. It's in their words "probably" nothing. Like you, I am tired of worrying about my dense/fiberous breasts that have at least a 20% chance of developing cancer. My mother had a lumpectomy in 2007, a masectomy in 2010 and another in 2014. I read from other women they have gone through the same thing. Go with your heart and get your DMX. I hope I haven't confused you further. I'm confused myself. My only concern for you is that they may pay for a DMX until cancer is actually confirmed. But because you had it once, they may. Sending big hugs to you.

Hi Kimogi57,

I am so sorry you are going through this. Have your doctors suggested genetic testing for BRCA 1/2 and the CHECK2 mutation? Was your mother diagnosed with BC? Assuming she was and with your recent history of diagnosis, I would think testing could easily be justified. If you are found to have any of the known genetic defects, you would have solid information.

In 2014/15, little was known about the CHECK2 mutation. The only oncologist who treated the mutation seriously was Dr. Hansen from Swedish. I had forgotten about it completely, because so many doctors including my former local oncologist (NOT Dr. Hansen) dismissed it. "Not enough evidence..." "Too little is known..." etc. Then I ran across an article by the Mayo Clinic purely by accident while trying to find articles about women diagnosed with BC in both breasts. I tried to include a link, but the site won't allow.

A brilliant neurologist in Wenatchee, Washington and the Mayo Clinic saved my husband's life last year after local doc's couldn't figure out what was wrong with him (Autoimmune Encephalitis CASPR2).

Anyone diagnosed with cancer is traumatized. Women with Breast Cancer are expected to be perky, cheerful, happy patients, who "fight" for their lives (lol's).

Yet, if a man were diagnosed with penile or prostate cancer as an example, they would not be expected to put on the cheerful, perky show. But, non-profits have made a ton of money. You can buy anything and everything in pink to show your support: Guns, garbage cans (yes! I just saw one-not kidding), t-shirts, tennis shoes/sneakers, etc. Pink Washing...

I tried to be a perky breast cancer patient in 2014, for about 3 weeks. What a mind blowing experience of societal manipulation that was.

To this day, anyone without a close family member or friend who has had breast cancer, believes that a biopsy is done by a tiny little needle put into the breast. The powers that be have done a great job, deceptively dressing up BC.

Komen has really distorted the facts. Worse yet, most women believe that if they are diagnosed in their lifetime, they can "fight" to live. Well, a good attitude is helpful, but the reality is, if the cancer has spread from its origin and it's aggressive/fast growing, they are in real trouble. Cute pink ribbons and t-shirts are not going to help them. One might say, "Komen has funded a lot of research." Well, Reuters (news) did an investigation on Kamen years ago and found 14-17% of the funds donated to them, were spent on research. That's not dedication if you ask me.

I'm glad the cancer was found at an early stage. I'm curious if the tumor was sent to a lab for testing (Oncotype?). Please insist on genetic testing and frequent MRI's. If you have children, they can be tested and carefully monitored during their lifetime.

I am strongly considering double mastectomy and don't know if anything could change my mind.

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.

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.

I do ! I have chek2 gene and found out in 2021 that I had triple positive breast cancer. It’s been a very long road I had a double mastectomy even though I only had it in my left breast

Hi @deborahmontana
I had bilateral total mastectomies (not radical thankfully, not skin or nipple sparing as I did not opt for reconstruction). After my mastectomies, I only had breast MRIs and chest ultrasounds. If I said mastectomy somewhere, that was in error. I was trying to say your MRI could see things your mammogram didn't and that may explain why your mammo was normal and the MRI was not.

I didn't have oncotype testing either time because I can't have chemo with my pre-x neuropathy and my oncologist doesn't think it would work for my recurrent cancer anyway. I can tell you I'm ER+ PR+ Her2- and have a Ki-67 of 50% this time (anything 20+ is aggressive) so it’s very aggressive now. The first time it was about 17%.

Hope you don't think I was indicating you are litigious. I was just saying because I'm not, I don't spend too much time pursuing the mistakes although I have had plenty of medical mistakes happen to me and my family has had them too. I agree they are very upsetting, but I only have enough energy to focus on where I’m at now. Not only do I wonder if there was a mistake during my mastectomy that spread the cancer, but on my recurrent chest tumor there was a positive margin after surgery. The surgeon only needed to take another mm or 2 so why cut it so close?

There was also a mistake during my radiation treatment and the first 4 boost treatments (28 regular and 9 boost treatments altogether) were not where the tumor was and I had to battle to get it corrected. The mistake happened because my surgeon opened up my old incision and reached to the new tumor rather than creating a new scar so the radiologist assumed the tumor bed was along the incision line as it normally is. I wonder if reaching to the new tumor also contributed to leaving a positive margin?

The cosmetic surgeon also made a mistake by removing my surgical tape too soon and declined to give me the special tape to prevent keloid scarring even though I had a history of keloids. Sure enough, I got excruciatingly painful keloid scars and had 125 kenalog injections in them over 2.5 years to flatten them out and stop the hourly stabbing/slicing pains that also woke me up every night. Keloids are not common and you would know by now if you get them. I’ve only ever met one other person with them. I have a history with them starting at 3 years old when I had the smallpox vaccine and got a large raised red keloid scar instead of the usual little indentation most people got.

The radiologist that did my initial breast biopsy and diagnosed my cancer was wonderful. The nurse told me to wait for her while she was on vacation because my tumor was small and deep and this radiologist doesn't miss. So I waited and she didn't miss. The radiologist later told me that something like only 4 out of 1,000 mammograms are cancer or something crazy like that so she was saying it's like finding a needle in a haystack and radiologists can easily breeze through each image assuming each one is going to be no cancer. Luckily for me, she wasn't one of them. Radiology is one area I think AI might come in really handy in addition to a radiologist reviewing the scan.

Your original tumor was larger than mine. My small 7 mm tumor was caught in an annual routine 3D mammogram. I also had dense breasts. I knew I was in trouble when they told me I had three types of tumors. I figured surely one type would be cancer and it was. Yes, I think my recurrent cancer likely popped up in the year between ultrasounds so I don't think there was a mistake there, but do think it may have recurred due to a mistake during the mastectomy. I'll never know for sure.

When I was first talking to my oncologist about the recurrent cancer in my chest wall and muscle, I asked, "Just for the sake of argument, what would happen if I did nothing right now?" He said the cancer is so aggressive this time that it will be everywhere within months. Eeek. After removing the tumor, we can no longer see a BC tumor anywhere on the scans, but he does believe due to the aggressive nature that cells likely got away to other areas before we removed the tumor. And then there's the positive margin and mishap during radiation. It takes millions of cells to form a visible tumor so it’s just a wait and see with my scanxiety increasing as more time passes. At this point, my advanced cancer is considered incurable, but treatable so I will always be on some form of treatment now and continue to hope for the best. So far, the meds are holding it at bay. I have a lot of medication side effects, some serious, but I can still enjoy life.

I also have 50+ lung tumors (discovered in 2008) from neuroendocrine lung cancer that are very slow growing (Ki-67 2%), but I wonder if my breast cancer were to spread to the lungs would they even notice a BC tumor among all the lung NETs? I hope so, but it would be like where's Waldo? Again, AI might be handy to identify any changes.

Ask your surgeon what kind of margins will be taken to be safe. If you have a mastectomy and don’t opt for resconstruction then be sure to ask about extra non-breast tissue that if left behind falls to your sides even when you're upright. It's uncomfortable and unsightly. The BC world calls it "dog ears" which I find to be a horrible nickname. My former oncologist told me that and laughed. I was told by the cosmetic surgeon in advance that "dog ears" or what he called "side boobs" are the main complaint by women who have a mastectomy. Apparently, during reconstruction that excess tissue is pulled back around to the front. I think my BC surgeon thought I would change my mind and want reconstruction later so I think she left more tissue behind than she should have for someone going flat. Not happy with that at al, but not willing to have more surgery to correct it and can't have keloids on my sides where my arms would rub on them. Egads. You’re doing the right thing by asking lots of questions.

I noticed that you wished to post a URL to a Mayo Clinic News Network article with your post. You will be able to add URLs to your posts in a few days. There is a brief period where new members can't post links. We do this to deter spammers and keep the community safe.

Allow me to post it for you:
- Mayo Clinic researchers identify women with twice the risk of cancer in both breasts https://newsnetwork.mayoclinic.org/discussion/mayo-clinic-researchers-identify-women-with-twice-the-risk-of-cancer-in-both-breasts/