Will chek2 affect treatment plan

Hi kd, I also have the Chek2 mutation. The way I understand or was explained to me this mutation increased my risk for probable breast cancer to almost a 50%, so this determined for me to have a double mastectomy. It's also my understanding that it increase probable higher cancer risk for colon cancer and Drs recommend every 3 years for colonoscopy instead of the 10 years people without this mutation.

Now it's the word probable that stands out, because Drs don't know if this mutation leads to anything it could or it could not. Well that's life. Did the ckek2 cause my cancer? Drs can't say, nor can the generics counselor. It's a crap shoot, that's the way I look at it. No one in my family history has breast cancer and the Chek2 had no bearing in my treatment, so other than earlier screenings it does me little to even know i have this mutation.

kdholt, as you said, even after a BMX, a small amount of breast tissue always remains. This is why, for most patients, there is a 1% - 2% chance of developing breast cancer (not a recurrence but a new primary cancer) after a BMX. I would expect that with the CHEK2 mutation your risk will be somewhat higher. But how much higher?

Honestly, I have no idea, but I like playing with numbers so let's do that. To my understanding, for BRCA+ patients, a BMX generally reduces breast cancer risk by 90% - 95%. On average the breast cancer risk for someone with a BRCA mutation is about 70%. A 90% - 95% reduction in risk with a BMX takes this risk down to 3.5% - 7%. (Good, the 7% matches what I recall reading!) If with the CHEK2 mutation your risk to develop a first BC is 50% (I took that from Gamb's post), then a similar reduction from a BMX would take the risk down to 2.5% - 5%. Even with a genetic mutation, usually the risk to develop a second BC is lower than the risk to develop BC one time. I would expect that the risk to develop a third BC is lower still. So this means your risk to develop a 3rd breast cancer, now that you've had the BMX, is probably somewhere between the 1% - 2% risk faced by the average patient, and the 2.5% - 5% first time breast cancer risk faced by a CHEK2 patient who's had a BMX. Average it out to 3%. Of course that's all speculation, but the data behind the speculation is real data so your real risk is going to be right in the range. Make sense?

So, a bit higher than average but hardly a ticking time bomb.

Debbi, with the title of this thread, the people who can answer your question about TH probably aren't reading here. You might want to repost the question in the HER2+ forum, with a very specific subject line, something like "Chemo protocols Stage II HER2+" or " Taxol + Herceptin for Stage II?".

hi kdholt-I am chek2 positive and in the middle of treatment. So far my treatment has remained the same for my breast cancer. I just had my bilateral mastectomy on 12/1 with immediate reconstruction.

My Gyno is recommending I get a hysterectomy due to the chek2 since all the medications turn off your reproductive organs and I am done having kids.
I will be getting an extra colon exam compared the rest of the population starting at the age 40

Let me know if you have any questions. It's hard to find the chek2 positive ladies on here

Hi everyone, I also have a CHEK2 mutation. Mine is c.1100delC, which did not change my treatment plan. Most of what I have learned is similar to what has already been mentioned. Namely, that we have twice the risk of breast and colon cancer from the rest of the population, and therefore need better screening (breast - alternating mammo with MRI every 6 months; colon - colonoscopies starting at 40 and done every 5 years instead of 10). My report says it may be linked to other cancers such as thyroid, melanoma, kidney, stomach and lymphoma, but there isn't a strong enough link to change the screening recommendations at this point. When I spoke to the genetic counselor, she said the types of cancer I've seen in my family are likely the ones I will be at higher risk for.

By process of elimination, this came from my dad's side. Breast and pancreatic cancer in my mom's family prompted genetic testing, so we know she is negative for this mutation (although I don't know what additional risk I get from her side of the family). Thankfully, my dad remains cancer-free at 69. His mother had both breast and colon cancer, but not until her late 70s/early 80s. One of his brothers had non-hodgkins lymphoma in his 30s, another has had melanoma and prostate cancer, both in his 70s, and my dad's third brother, like my dad, has never had cancer.

I notified all members of that side of the family and don't know how many of them have been tested. My brother's test results are pending and I'm really hoping he doesn't have it.

Prior to learning of my breast cancer diagnosis (and CHEK2 mutation) I'd been monitoring two subcentimeter thyroid nodules for several years now. The current recommendation is that they don't biopsy anything less than a centimeter, especially when they aren't growing. Upon learning of my CHEK2 mutation, I asked if that changed the recommendation and was told it does not, but I could biopsy if I wanted to. Since they've remained stable, and I had my hands pretty full with breast cancer treatment all year, I have chosen not to. But that might change now that I'm settling into the endocrine therapy leg of this marathon.

I'd love to stay connected with other people who have this mutation and share any new information we learn. Thank you everyone for sharing, and I'm happy to answer any additional questions about my own situation.

Thank you for sharing, Mommd. Though we have different Chek2 variants, I still find your information very helpful. Hearing that your thyroid nodules were confirmed to be benign, makes me feel a little more comfortable sticking with my doctors' recommendation that I not biopsy unless they grow (which they haven't since 2016). It was hard to not feel doomed to a life of various cancers when I first got the news about my mutation. But constant fear is a pretty awful way to live, so instead I'm committing myself to all the risk-reduction and early detection methods within my power, and trying my best to live an otherwise happy and healthy life.

My brother did get his results back and unfortunately also has this mutation. He's 40 and will be getting his first colonoscopy this month. Fingers crossed that he will get a clean bill of health and will be told to return in 5 years like me.

If anyone ends up receiving additional screening guidelines, please share and I will do the same.