Anyone else have CHEK2 gene mutation? And have had multiple cancers?

@colorado73
You've been through a lot in a short time. In 2013, I had my ovaries/tubes removed due to the BRCA2 mutation. We didn't know about the CHEK2 mutation until 2018. I asked my GYN at the time if he could just take the uterus too so I would never need another surgery and he wouldn't do it at my request because it increased risk. Now that I'm hearing more about CHEK2 and your plan, I really wish he would have! I don't do well with abdominal surgery at all so I will never have my uterus removed proactively.

Good luck with your armpit ultrasound. I'm really hoping it's just hurting because of lymphedema cording. I get pain from that. I also have so much pain and tenderness down my sides from my double mastectomy 10 years ago and especially from the chest tumor I had removed 3 years ago. Nerves can be very unforgiving after surgery. Let us know how it turns out. Blessings and hugs, Zebra

Thank you for sharing your story. I'm so sorry you had to go through all of that. Yes sir it IS a terrible gene for sure! My oncologist I saw 2 days ago flat out said- We just don't know much about this gene because it's so rare! Ugh...not what a patient wants to hear. He recommended I go ahead & do the Radioiodine treatment, unfortunately & definitely get a hysterectomy this year to prevent the uterine cancer side of it. But without estrogen replacement therapy due to the gene mutation thriving on estrogen. And he's ordering an ultrasound of my armpit because of pain I'm having since double mastectomy surgery last year. Ugh...just so much still going on & my endocrinologist called me back yesterday about my Synthroid medicine. She's changing the dose again because of the awful side effects im having on the 200mg dose. Ugh...roller coaster, gotta love it.
Blessings to you.
By the way, I'm 50 now. I was diagnosed with BC at 47, skin cancer at 48 & thyroid cancer at 50.

I have the CHEK2 gene and was treated with proton radiation for prostate cancer at age 78. Did well. Then had a mastectomy and 16 proton radiation treatments for 3 positive nodes at age 81. On tamoxifen and doing ok. No other cancers so far. Terrible gene that requires regular follow ups! Good luck. Now age 83+. I am a male and 2 of my adult children inherited this awful gene.

My daughter- age 40- has the CHEK2 mutation.
She is getting breast Mammogram and MRI twice a year- alternating.
I have had BC, but I don’t have that or any other mutation.
CHEK 2 mutation also increases the risk of male BC.
Hoping to have my son and other daughter get tested too.

Hi @colorado73

Thanks for sharing more of your story. I am really interested now to know the name of that rare skin cancer you had. Don't you just love when you hear you have something rare? Ruh-roh! You definitely want to be boring medically speaking. I've had to stay out of the sun my whole life since it makes me break out with psoriasis so you'd think I'm safe, but now I have two genetic mutations putting me at risk for various skin cancers?

I'm curious about you having yearly thyroid ultrasounds. Is that because they had already seen a nodule on your thyroid they were monitoring or was that purely for screening due to CHEK2? Did you have any symptoms for thyroid cancer other than a tumor? I remember I had a thyroid nodule about 35 years ago that they did scans and ultrasounds on, but decided it was benign. Guess it was since I'm still here. I think it went away eventually, but I haven't had a ultrasound since then. I guess I've had PET scans since then though. Endocrinologist can't feel a nodule. This new CHEK2 info has added new concerns.

Lymphedema PT is the best - you're right! Part of it is relaxing and the other part getting the cords out is so effective for improving range of motion. I've had PT for that 3 times in the past 10 years.

No one told me anything about radiation and CHEK2. Hmmm.

Synthroid - I've been taking Synthroid for 34 years for hypothyroidism. Once on the right dose, I didn't have issues with the med. Too high and you will have hyperthyroidism symptoms. Too low and you will be dragging with hypothyroidism symptoms. When I was first diagnosed, I was soooo fatigued I could hardly drag myself out of bed to the living room sofa on weekends to be available for my young son. On so struggled on workdays. I would go out to my car for lunch and breaks and crash fast and hard I was so tired. I was also freezing all the time. Even if 85 degrees in my home, I was freezing. Those were the two worst hypothyroidism symptoms for me. It does take about 6 weeks for each dose change to take full effect. I hope they get you to right dose soon!

Hi Rita @ritabtripp

@colely recently mentioned that $950 test -- Galleri. Amazing that you took it and it revealed nothing. Good for you for staying on top of things with the CHEK2 mutation and all the family cancer history. My family is like blackout bingo with cancer. Everyone seems to get something different so I'm thinking there may be more than two cancer mutations in our family and they just haven't been identified yet or else they haven't linked all the cancers in our family to my two mutations yet. Like my brother being diagnosed with stage 4 lung cancer at 45 when he never smoked a day in his life. Sounds like a predisposition to me.

Thank you for sharing!
Yes I agree, early screening is best!! I had a colonoscopy done 2 yrs ago & everything came out fine. But thanks to my annual mammogram, they found my cancer early & yearly ultrasound on my thyroid found the cancer. This journey for started when I was 47 with skin cancer & it's been 3 years now. One cancer a year it seems like. Lol. But praying that's all the body parts I'm giving away! No more!😜
Hang in there. God Bless!

I appreciate all of your insights! I am 66 with the CHEK2 mutation but so far have not been diagnosed with any cancers though I do lots of screenings. My mother died years ago of lymphoma and that is one cancer I’ve read we “may” be at risk for with this mutation. I’m guessing she had this mutation (several cousins on her side of the family with breast, colon and prostate ca). Last year I had a blood test that is supposed to identify some, but not all, early cancers. It was not covered by insurance and cost $950 but I may continue to do that annually. It catches breast and colon cancers early, if I remember correctly.

Thank you for sharing! I really appreciate the feedback. Good luck to you and your son as well.
I've studied up on this mutation & it does talk about bc, thyroid, colon, skin & prostate in men. I've had invasive skin cancer. The name of it I'll have to look it up on my medical chart. It's a rare type of carcinoma, so much my Dr had to consult with a panel of specialists because he had only seen it one time before in all his 45 years of practice. Yikes!! It was removed from my shoulder, that was under clothing. I don't hang out outside for long periods of time so how I got this, he told me was just from my genes. But it can come back. I hope not!!
After that I was diagnosed with BC & opted for double mastectomy due to finding out what gene I had. Now this year I had thyroid cancer & had it totally removed due to cancer. Unfortunately I wasn't informed all the way about the side effects from this surgery. The hoarse voice, trouble swallowing, neck swelling. I'm already seeing aPT for lymphedema from BC surgery that I was never warned about. A year after surgery I was referred & only by a woman Dr. My male Dr didn't seem to think I needed anything done. False information given & alot of frustration, I followed up with a female Dr & she said You definitely need help & referred me to PT.
Best treatment I could ever have. I see her weekly & she works wonders on me! Only thing is she said that it's unfortunate that women fall through the cracks with male Dr's cause they don't know that by taken lymph nodes out, you'll take on fluid & have no way of getting rid of it so they tell you to just rub & do exercises with your arm. That's not enough unfortunately.
Anyway, I pray I don't get recurring cancer! I'm scared of these side effects of the Synthroid medicine they have me on. I'm tired, I feel like crap most days. Dr keeps adjusting meds. Ugh! I'm just frustrated by the lack of information these Drs don't talk about & were left trying to make the best decision for ourselves.
She wants me to do the Radioiodine treatment but I'm not going to for fear of what it could cause due to the chek2. The reason for this blog was to get an idea of what others are going through with the same gene mutation. Visit & share what we're going through.
Thank you again for sharing. God bless & praying we're done with this cancer crap!!

@colorado73 -- also search for CHEK2 on this Mayo site and you'll see other discussions about it including people who have had thyroid cancer.