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

@smhaas37
Sorry to hear you've been hit with so many cancers. I find it concerning that you had multiple myeloma because my son and I have the CHEK2 mutation and my grandma and uncle (mother/son) both had multiple myeloma. I don't think anyone else has tested for CHEK2. My aunt, uncle and mother all tested for BRCA2 after I found out I had that. They didn't have it so it came from my dad who had already passed. I didn't know about CHEK2 until years later.

It seemed people in the family did not want to hear about my genetic mutations -- silence in response to my family e-mail advising others to get tested. Then my aunt and uncle didn't even tell me they tested and were negative. I found out years later. Was anyone else made to feel like the bad guy when telling others they should get checked? No good deed... Not one relative thanked me for the heads up.

So many other cancers in my family. Knock on wood, but so far no one in the family has had thyroid cancer. I'm surprised after reading how many of you with the CHEK2 mutation have had it. I had a thyroid nodule at 30, but it went away long ago. Scary stuff.

I was Diagnosed with my 1st BC at age 31, second BC 39, which was a totally different type in other breast. That’s when they discovered I had Chek2 . I’ve had so many skin cancers I can’t count , all 3 types. I have to get checked every 2 Months. In 2020 had Right side of Thyroid removed cause it had 5 pre cancer nodules on it. I’ve also been diagnosed with Grover’s Disease, rare skin condition. In 1998, after the birth of my first child, a Malignant Peripheral nerve Sheath Tumor was removed from in between my breast. The only reason I’m on here I was looking it up and saw your comment about Chek 2. I’m sorry we all have this but I’m glad I found you guys. Both my sons have it but my daughter does not. Plus this week I found out my thyroid is off again but it’s my T3 . So having ultrasound on it to see what’s going on. Having said all this lol , I feel blessed , to be here and help others.

I'm so sorry you've been through so much. I understand. I'm blessed to have this group myself. I'll be praying for you. Good luck with everything.

@jpmtja123 Wow, you've had a lot of different cancer issues to deal with. The more stories I hear about multiple cancers for people with CHEK2 mutation, the more concerning it gets. My oncologists just seemed to focus on my BRCA2 mutation and I didn't get much of a reaction when I showed them new test results showing the CHEK2 mutation. In fact, a lot of doctors are unfamiliar with it even though I've read it's more common than BRCA2. BRCA mutations seem to get all the attention. Prayers from me too.

My Dr would have to change my dosage every 3 months on the generic. I use the VA and they will not let us use synthroid. My Dr did some math and figured out how to make the 137mg dosage work for me because that dosage was only made by synthroid. I take 2 pills mostly, 1 day a week I take 1 pill or no pill. I have been on that dosage for 3 years now (12 years on generic). It saves money cause I'm not throwing away pills every 3 months. Since I have been stable I have found myself to be less tired and I realized my hair loss seems to cycle instead of just happening randomly. My body temp control still is wonky.

My Endocrinologist has me on generic Synthroid every day. I basically have spurts of energy anymore. Surgery was in April of this yr. I'm a care taker of 2 adults & I'm struggling with lack of energy now. Dr has changed my dosage 2x. So now I'm splitting the 200mg tablet in half & taking the half once a day. My lab work seems to be somewhat a roller coaster still. I'll see her again in Aug & discuss with her about what can be done if anything. I'm trying to boost my energy with protein shakes in the morning. But I'm lagging in the afternoons terribly. If anyone has any suggestions I'm all ears.
The Drs I speak with ARE NOT educated on this gene mutation & their solution is to start YANKING OUT BODY PARTS!! My obgyn wants to do a full hysterectomy on me in October to ward off Uterine cancer from this gene. Ugh! I'm 50yrs young & I won't be a candidate for estrogen replacement either due to the gene mutation. So I'll just "Waver through it" according to Dr. Frustrating!! Tons of questions & NO ANSWERS from the medical specialists. They just sit back & say well there's no data on that so better just take it out!!
Ugh ...

Thank you for the responses on synthroid vs. generic.

I would not let them take your ovaries. They do most of the hormones. I had a partial hysterectomy in 2011 due to fibroids. They took the uterus but left the ovaries to keep me from going into early menopause. I'm 53 now and my hormone levels are still normal. I make the Dr check every so often to make sure. I have an Endocrinologist for my thyroid meds but, I see an Oncologist for the Chek2 stuff. He makes sure that I'm getting the correct check ups and avoiding anything that other Specialist Dr are doing that might be a problem. (Multiple radiology, meds like Ozempic, ect) He and the Oncology Surgeon do acknowledge they don't have much infomation or knowledge about Chek2 right now. Right now they are both pushing a double mastectomy for me because of my history. I did say No and they are working with me on developing other safety options. However, I just had a biopsy on a breast lump yesterday. They found it in my breast scan this month. It was not there in Jan's Mammogram. I have had 2 prior biopsies that were benign. One was a surgical biopsy and it caused horrible pain. They think I'm going to have Post Mastectomy Syndrome which is why I said no to the double Mastectomy. You do have the right to say NO to anything the Dr recommends. It is your choice what is done to your body. Make the decision what is best for you and your quality of life. The Dr doesnt know that part when they suggest stuff. If you want to keep your ovaries and let them take the uterus that is what they have to do. Even no hysterectomy at all (although I love no more period). An ultrasound can always check those organs safely as often as needed. Good Luck

Thank you for sharing your journey. I do appreciate it. I'm still on the fence on what to do & I see my Dr next week. Ugh ... I've tried educating myself on the results of full hysterectomy & the results from it. Scares me for sure cause I don't want to go into full blown menopause just yet. I'm only 50. My mom still had periods at 60 when she passed away & my sister still had hers when she passed away at age 52.
Yes I look forward to having no periods for sure cause they are extremely painful & heavy. But then again this gene mutation thrives on estrogen & the ovaries produce it. So I'm back to square one lol. Not sure what to do. Dr wants to remove everything due higher risk of uterine cancer and ovarian cancer as well. But I like the idea of having her check my ovaries every so often to see if they are ok instead of taking them out right now.
Thank you for your advice. Good luck to you as well.

New to channel. How do you check for those specific markers?