Genetic testing...does anyone have the CHEK2 gene mutation?

I am definitely giving thought to having a bilateral mastectomy and getting reconstruction. The second breast cancer nearly put me over the edge. Thank heavens all I had for both cancers were lumpectomies and radiation… No chemo. If I get it again I have a good chance of getting chemo and losing more lymph nodes which would set me up further for lymphedema. Also if I got it again I definitely would have a mastectomy. This is weighing very heavily on me. I have two daughters and one of them has been tested for it and does have the gene mutation. Unfortunately she is also very sick with Crohn’s disease and PSC which is a bad liver condition that is fatal. Since the CHEK2 mutation also can affect colon cancer, she figures she’s in trouble to begin with with the Crohn’s disease and now this. She is 44 and says she will have a prophylactic mastectomy when she gets her health back in order after this last Crohn’s surgery. I do not know if my other daughter has pursued the possibility of getting the genetic testing. I gave her all the information she needed and explained it to her and I am hopeful that she will move on it, but she is an adult and needs to make her own decision without mommy hammering at her. This has been a real strange experience. If I had known this after my first breast cancer I would’ve definitely had The double mastectomy after my second breast cancer. There was 11 years between the two cancers. Even though I am pushing 70 I just don’t feel like I want to be bothered with cancer again. So that is where I am right now. I feel very confused and definitely do not want to have the surgery but know that it is probably the best thing for me. If I have this surgery there is a 90% chance that I will not get breast cancer again. Just to wake up in the morning and not think about having cancer is huge to me. I would appreciate hearing your thoughts of how you are thinking about dealing with it. Thanks for your comments.

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?

I also had a lumpectomy, and will start radiation in December. No chemo. Just curious—did you receive endocrine therapy? (Wishing you well in your decision-making.

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?

This 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.

@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?

@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.

I have CHEK2 and have had thyroid cancer.