Connect
Genetic testing...does anyone have the CHEK2 gene mutation
I have had bilateral breast cancer. According to my genetic test, I do not have the BRAC1 or BRAC2 mutation...I have the very rare CHEK 2 mutation. Has anyone had this mutation? If so, what was your plan of action?
Like
Helpful
HugInterested in more discussions like this? Go to the Breast Cancer Support Group.
Connect
So sorry to hear this. I had a mastectomy on my left breast and it was Stage 2 but I was in my early 40’s so they did chemo and radiation. I did genetic testing back then but they only tested for BRAC 1 and 2 which I didn’t have. My oncologist just requested that I have genetic testing again and this is when they found the CHEK 2 mutation. The genetic counselor suggests yearly MRI’s now and a colonoscopy every 5 years. My mom who is 82 is going to be tested now for free. She has had no cancer of any kind. I am scared about the cancer return especially even after this length of time. I’m really scared at this point to have another mastectomy. I’m 57 currently. So they found a lump after 11 years in the other breast and you had a lumpectomy and radiation? Do they suggest having a mastectomy? What are the odds it would come back again?
-
Like -
Helpful -
Hug
1 ReactionNo one has suggested a mastectomy. After having BC twice, I know I do not want to go through that again. Prophylactic mastectomy was my idea. When I had the second cancer last year, I suggested a mastectomy and the surgeon was against this. We did not know about the mutation at that time. I talked to my oncologist about it last month and he is neutral on the idea. I could deal with the extra testing, but that won’t prevent me from getting it again. If that were to happen, I would probably be forced into a mastectomy and I would be older and I might have to do chemo. So I figure I could do away with all the nonsense and just get it done now and hope for the best and avoid the daily fear. I was shocked to get it after 11 years. BTW, I have not had luck with radiologists and this last cancer was diagnosed as probably benign and six months later benign. I asked for a biopsy at that point and I had invasive ductal carcinoma. It seems that my friends that have had DCIS seem to be getting another cancer in the other breast. There are really no predictions with the CHEK2, so I would rather be safe than sorry.
I am so interested to see why they suggested radiation? I too have this Chek2 gene. Even though I have the lesser one T157 I see that this gene does not like radiation and that seems to activate it. I have had 2 cancers in 3 years. All the "easy ones." First papillary thyroid and now stage 0 dcis. I feel the RAI 131 radiation I took not knowing I had this gene set all of this in motion. Now I did a lumpectomy and they say radiation. Had I not known about the gene or had such a horrible, side effect laced experience I would not be as worried.
@shelleyc, am I understanding you correctly that radiation has been recommended for you? The role of radiation and CHEK2 is confusing. From what I understand (I'm not an oncologist), having radiation when someone has a germline mutations like BRCA1, BRCA2, CHEK2 and ATM may increase the risk of radiation-induced breast cancer. But if you get breast cancer, radiation treatment is still a viable treatment option. See this article:
- How to Manage Patients With Moderate-Risk Germline Mutations https://www.hematologyandoncology.net/archives/february-2018/how-to-manage-patients-with-moderate-risk-germline-mutations/
"Regarding local treatment, there is no evidence that any of the mutations other than TP53 should prevent a woman from having breast-conserving therapy that includes radiation."
I understand your concern and suggest you to ask your oncologist about it. I'd like to learn what you find out.
@tcennoc3303 Did you have radiation? I assume you're finished now. How are you doing?
-
Like -
Helpful -
Hug
1 ReactionThis is interesting. Where are you finding your information on CHEK2? I have tried to find out more about the mutation but have not been very successful. I was not told anything about radiation causing cancer if a person has this mutation. My mutation is p.R137*. I sure would like to find more information about it. The genetic counselor did not specify anything other than it increases my chance of getting breast and colon cancer. How do I find understandable information about this.
@sandyjr, I've been using Google and internet searches. But you're right. Most of the information comes from research studies and journals. There's not much info in layman's language unfortunately. The link in my post above is pretty comprehensive and not too hard to understand, not easy, but not too hard.
-
Like -
Helpful -
Hug
1 ReactionNo I did not have breast radiation yet because I think someone at MDAnderson needs to take a look at all of the information. I did have radiation RAI131 for the thyroid cancer. I feel like this radiation tipped the scales and that is why I am seeing the breast cancer. If I had never had that I would not be as concerned about doing more radiation. It also seems like some people with this Gene saw a second cancer within 10 years in the other breast. Even without this gene it seems that scatter radiation can do that. I just do not want to get 5 years down the road and be told I have another more serious breast cancer. Right now I have had two very treatable cancers. The next time I might not be so lucky.
-
Like -
Helpful -
Hug
1 ReactionI have CHEK2 and have had thyroid cancer.
Yes. My husband had me set up a Google Alert for anastrozole (which is how I found all of you!) and also an alert for BRIP1 where I have a mutation that is a variant of unknown significance (VUS) meaning they don’t know for sure if it’s benign or pathogenic for ovarian cancer. They are not sure if it’s related to breast cancer either, but more likely ovarian. At my age I would be delighted to take it all out because I don’t even want to think about it but since it’s unknown, I can’t be proactive.
I have the Chek2 gene and have been treated with proton radiation for prostate CA and last year had left mastectomy, 3 positive nodes and 16 proton radiation tx at Mayo Clinic in MN. So far ok?!.