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

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.

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 have it too.

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.

Tamoxifen used to make me sick to my stomach as well but when I switched to taking it before bed I stopped having this side effect. I've also heard a lot about switching manufacturers if you are experiences side effects.

I did have genetic counseling myself to see if my daughter got her mutation from me. I tested negative for CHEK2- so it probably was passed from her father.
Of course I had breast cancer- now she has 2 factors.

I have the Chek 2 Kinase mutation. I now get a breast MRI once a year and regular mammogram once a year.

You should not feel guilty. I'm sad that my son has my mutations, but it's nothing I did. I don't blame my parents for having passed anything on to me. They gave me life. My son had a 50/50 chance of inheriting 4 identified genetic mutations I had and he got all four! What are the odds of that? BRCA2, CHEK2, HNPP, and a rare unknown vascular variant. The genetic counselor said, "This one is weird. Only one other person has ever had it." I said, "It's my son!"

While irrational, I felt guilty giving the Chek2 gene mutation to my 2 adult children. However, they are medically intelligent and have become aggressive in watchful waiting. Makes me feel a tad better.

@dick61- I’m afraid that my other 2 children have it too.
It really scared us to find out of this gene mutation’s existence.