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

Hi @colorado73

I'm sorry to hear you have dealt with 3 different cancers. Two for me. I have the CHEK2 mutation, but I also have the BRCA2 mutation and that seems to get more attention from my doctors. I was told that CHEK2 doubles risk for breast cancer and slightly increases the risk of colon cancer.

In 2013, I had a double mastectomy due to breast cancer plus ovaries/tubes removed due to the BRCA2 mutation risk. I didn't know about my CHEK2 mutation until 2018 when my 35 year old son had to do his genetic testing and I was able to add on as a family member for $50 so I did since it included more tests than I had in 2013.

Not sure of your age, but colonoscopies are recommended. I had colon polyps removed years ago so they put me on a 3 year repeat schedule instead of the standard 10. Then in 3 years I didn't have any polyps so I moved to a 5 year schedule due again next year. Polyps generally take many years to turn into cancer so keep up with your colonoscopies to be safe. My son also has both the BRCA2 and CHEK2 mutations. He's on the 3 year colonoscopy schedule since he had polyps removed at 37.

Per Ambry genetics website - they found my BRCA2 mutation. CHEK2 cancer risks: You have an increased chance to develop female breast cancer (around twice as high as the average woman), colorectal cancer, and possibly other cancers such as male breast cancer, prostate, thyroid, ovarian, or kidney.

This is the first I've heard of the other cancers. Hopefully, that risk is low. Either that or they are still trying to connect the dots on those risks. Of course you've already had thyroid cancer so you're not feeling that was low. Your skin cancer may not be related at all especially if it was the common types often caused by sun damage. My brother had melanoma (worse kind of skin cancer) and BRCA2 does put you are higher risk for that.

City of Hope (cancer center) states this: CHEK2: About 1 percent of people carry this mutation. It’s more common than the BRCA mutations, but the risk of developing a cancer associated with it is lower. A woman with a mutation in the CHEK2 gene has a 23 to 48 percent lifetime risk of developing a first breast cancer and a 29 percent chance of developing a second breast cancer within 10 years of the first. Having this mutation is also associated with a higher risk of colon cancer.

City of Hope does not mention any other related cancer risks so maybe that's still unproven. I'm interpreting the 29% chance of second breast cancer (it didn't say metastatic) to mean if you didn't have a mastectomy and still have breast tissue putting you at risk. You made a good choice. I had breast cancer recurrence in my chest wall after 7 years, but that may have more to do with ill advice I received about not taking a hormone blocker.

I certainly hope we will not get every cancer we are predisposed to, but I do reasonable screenings. I did an invasive and somewhat risky screening years ago for pancreatic cancer due to BRCA2 and decided after that I won't do any more invasive screening tests except for colonoscopy. MRIs, ultrasounds, CT are okay with me.

I was 54 when first diagnosed with BC and 64 now. My breast cancer recurred when I was 61 and I was also diagnosed with unrelated lung NETS (50 lung tumors) at the same time even though we had known about the mysterious tumors for a long time. NETS does not appear to be related to the BRCA2 or CHEK2 mutations.

Press your doctors for information on any other precautions you should be taking. Or maybe ask for a referral to a genetic counselor so you can get your questions answered there.

I've noticed the cancer risks listed tend to vary from source to source. I also know the data keeps changing on cancer risks with various mutations. More studies are completed all the time. In 2013, I was told I had a 50% risk of ovarian cancer due to BRCA2+. Now, the risk is listed as 11-17% - much lower. I'm still glad my ovaries are gone, but I was done with them. Not sure of your age. Let's hope the data keeps moving in our favor.

I'll be interested to see what others with the CHEK2 mutation have been told and which cancer(s) they have/had. I'm glad you asked the question. Good to know the latest for me and my son. I think I'll ask my UCLA oncologist about the current risks when I see him in 2 months. Just googled for UCLA and it lists breast, colon, thyroid and prostate.

Hang in there. Hopefully, you have seen the last of cancer! Hugs to you. 🙂

I initially did genetic testing through my breast oncologist and was BRCA2 positive. So when my son turned 35 and had to do testing through color.com as suggested by my breast oncologist, I found they were testing for 30 cancer mutations plus other types of mutations (heart, enzymes to metabolize drugs). I had only been tested for 10-12 types so I did the testing with my son (mail saliva with their kit) and that is how I found out both my son and I have the CHEK2 mutation as well. I think it's about $250 for the package now. At the time, I was a family add-on for only $50 more, but I'm not sure they have that special offer anymore. If your doctor doesn't submit a test order, one of their doctors will. Someone will go over the test with you and then you have the option to ask a genetic counselor more questions (at least 5 years ago that's how it worked).

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

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

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

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 ...

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 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.

Hi @journey99

You are the second person to say they only take Synthroid brand, not the generic because Synthroid worked better for them. Both of you had your thyroid removed so I'm guessing on a much higher dose than me with hypothyroidism for 35 years. I took Synthroid in the beginning, but I've been taking the generic for 30 years since that is what insurance covers. I was just told to stick with the same manufacturer when using generic as they may all dose slightly differently. I'm wondering if you could tell me exactly what difference you noticed between the name brand and generic. Thanks.