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Anyone with ATM gene variant that decided to have a mastectomy?

lollypopgirl17
lollypopgirl17 Member Posts: 15
edited February 2023 in Genetic Testing

Hello everyone.

I finished chemo today and now trying to decide between a lumpectomy with radiation or a bilateral mastectomy. I'm seriously thinking about a mastectomy.

Would anyone in a similar situation as me be willing to share their feedback on what helped you decide to go for a bilateral mastectomy? How are you doing? Are you happy with your decision?

Thank you.

Comments

  • monarchandthemilkweed
    monarchandthemilkweed Member Posts: 149
    edited January 2022

    while I don't have the ATM gene, I do have the chek2 gene and because of that I did get a mastectomy. I'm very glad I did it. My sister who also has the chek2 gene also has ovarian cancer. I believe our variant is very dang

  • simonerc
    simonerc Member Posts: 151
    edited January 2022

    Hi Lollypopgirl17 from a fellow ATM'er. Sorry to welcome you to the club. Glad you found your way here and to FORCE:-)

    I have a family history of breast cancer and other cancers. I began annual mammograms at age 35 and did 3D mammograms as soon as that technology was available. A few months after my annual mammogram I began feeling fatigued, I gained weight and my hair was shedding. These were the same symptoms my sibling had the first time being diagnosed with cancer. I had dense fibrocystic breasts that were quite lumpy. However one lump felt different to me. Everyone who felt it, and there were many doctors, said nothing about it felt suspicious at all. They would never have thought it amiss. Even to all of the breast cancer team doctors at the highly regarded, top 10 NCI hospital where I was treated. This was just a feeling I had.

    My GYN sent me immediately for imaging. My 3D mammogram at a top 10 NCI hospital was completely normal. However my ultrasound was BIRADS 4. I was able to have a biopsy that day, which was positive for IDC. I then found out about the ATM mutation.

    My sibling developed radiation toxicity 5 years after completing radiation. That was just happening when I was diagnosed and my team did not want to radiate me if there was an alternative. However, I had already decided on a bilateral mastectomy when learning of my pathogenic mutation. Below are the factors that helped me make the decision to have a bilateral mastectomy:

    1. I did not want to rely on my “spidey" senses to catch another breast cancer. Imaging was not reliable for me.

    2. People with pathogenic ATM mutation have a higher risk of subsequently developing contralateral breast cancer (cancer in the other breast) after breast radiation.

    3. Any woman who has had breast cancer has a higher than average risk of developing breast cancer again. I was relatively young at diagnosis, 51, and I did not feel comfortable keeping either breast with so many years (hopefully) in my lifespan.

    4. My sibling had a bad (and very rare) and irreversible delayed outcome from radiation. Being such a close family relation I agreed with the team that for me avoiding radiation, if possible, would be a better choice.

    5. Aesthetically, I wanted both breasts to be similar to each other and age similarly.

    My surgeries were uneventful. I had 4 in total. One of which was a total hysterectomy (uterus, ovaries and cervix). I had breast reconstruction with tissue expanders and implants. No regrets. I had clean post surgical pathology so radiation was not recommended.

    My only “regret" is cardiac. I wish I would have been more aggressive with seeing a cardiologist as soon as I began Aromatase Inhibitors and certainly after hysterectomy. Both my sibling and I developed some plaque build up in arteries. I wish I would have begun a statin earlier. I am thin and fit. If you have any personal or family history of heart disease I would encourage you to speak with a cardiologist sooner rather than later. Please discuss and consider a cardiac calcium scan. And if you take an Aromatase inhibitor and or have your ovaries removed, again please see a good cardiologist for a consult. One of my doctors who studies and publishes research said that we have an elevated risk of cardiovascular disease with the pathogenic mutation and if you add in the AI's and/or BSO that risk is further increased.

    It is a very personal decision and we are all motivated by different things. I hope you come to a decision you feel is absolutely best for you! Sending all best thoughts your way!

  • armom4
    armom4 Member Posts: 82
    edited February 2022

    ATM Variant C.2T<C here. I also had a mastectomy. I chose it because I wanted to lower my chances of recurrence and cancer in the other breast as far as possible. I was diagnosed at 35 and young age combined with the ATM mutation makes me high risk.

    I wanted to also address something SimoneRC said. She mentions radiation toxicity. There is research out there that suggests radiation sensitivity is common in families with ATM gene mutations. There's just not enough research to change treatment guidelines yet.The reason is because the ATM gene is a part of DNA damage repair. Specifically double strand breaks which occur from exposure to radiation or environmental factors. When your DNA gets damaged, ATM (and BRCA and others) go to the site of the damage and either repair or kill it. If you have a faulty gene, it doesn't work right. This explains how cancer is allowed to grow in our bodies and it explains how radiation is not good for us. It also suggests that there's a risk for many other cancers besides just breast, pancreatic, and colon. Anyway, sorry for the spiel!



  • jasmine000
    jasmine000 Member Posts: 5
    edited February 2023

    Hello; thank you for your spiel on the ATM mutation; :) I am heterozygous for the ATM mutation. I actually didn't know about the sensitivity to radiation before choosing my treatment plan. I actually have already had a lumpectomy but I am now considering just getting a mastectomy. I didn't do a ton of research on the mutation before going into surgery. I am meeting with my surgeon to discuss a possible surgery this week. My anxiety and stress has been high after the surgery because I just keep thinking about the future and the possibility that it could come back. I am only 41 years old so I have a lot of time left for another breast cancer to develop. I just have struggled so much ever since I was diagnosed with making a decision. I really want it to be over and I think by getting a mastectomy at this point will give me more peace of mind.

  • jasmine000
    jasmine000 Member Posts: 5
    edited February 2023

    Hello; I am heterozygous for the ATM mutation and I am on the treatment plan of lumpectomy/radiation/hormone therapy. I have had a lumpectomy and was getting ready to be cleared for radiation. I am just learning about the effects of radiation on people with ATM mutations. Was the radiation toxicity that your sibling experienced really bad 5 years later? The radiation scares me. My ONCO RAD said that the clinical studies are mixed for ATM mutations. I am currently considering going back into surgery for a mastectomy. I am hopeful that my surgeon can provide me with some options. I really want it to be over so I can have peace of mind that I did as much as I could to keep it from coming back and I just don't think the lumpectomy is giving me that and now what I am learning about radiation with ATM mutations.

  • jasmine000
    jasmine000 Member Posts: 5
    edited February 2023

    Hello; I am heterozygous for the ATM mutation and I am on the treatment plan of lumpectomy/radiation/hormone therapy. I have had a lumpectomy and was getting ready to be cleared for radiation. I am just learning about the effects of radiation on people with ATM mutations. Was the radiation toxicity that your sibling experienced really bad 5 years later? The radiation scares me. My ONCO RAD said that the clinical studies are mixed for ATM mutations. I am currently considering going back into surgery for a mastectomy. I am hopeful that my surgeon can provide me with some options. I really want it to be over so I can have peace of mind that I did as much as I could to keep it from coming back and I just don't think the lumpectomy is giving me that and now what I am learning about radiation with ATM mutations.

  • maggie15
    maggie15 Member Posts: 771
    edited February 2023

    Jasmine, As someone who had a bad, very rare and irreversible toxic reaction to radiation (progressive radiation induced pulmonary fibrosis) I would not take the risk. I am older and never had any genetic testing done but this can happen with the ATM mutation. I'm off oxygen and oral steroids now but will be on inhaled steroids and whatever it takes to control cough syncope for the rest of my life. I have one working lung but a respiratory infection could start the PF spreading again; my life is very different now. I hope I never have a recurrence since all treatments except AIs and SERDs are now off the table. I am grateful to be alive but wish my RO had known about the red flags (Barrett's esophagus and upper GI bleeds indicating subclinical ILD) my pulmonologist noticed.

    Hindsight is 20/20 but if I could go back in time I would have a mastectomy with no radiation rather than a lumpectomy. I hope things work out well with the rest of your treatment.


  • maggie15
    maggie15 Member Posts: 771
    edited February 2023

    Jasmine, Radiation can cause serious side effects in some cases. Scleroderma and Sjögren’s syndrome are two health conditions where this has has been confirmed. The ATM mutation you have and occult ILD which I had are two conditions which are suspect but not enough research has been done to put them on the contraindication list. Unfortunately I developed progressive radiation induced pulmonary fibrosis which has impacted my health and my life much more severely than the cancer. While you might get through radiation without problems, in my experience it is not worth the risk. If I could go back in time I would have a mastectomy without radiation rather than the lumpectomy I opted for.

    Good luck with your decision. I hope the rest of your treatment goes well.