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

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!

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.

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.

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.