ATM gene mutation and mastectomy?

silviatrvz Member Posts: 3
edited February 19 in Genetic Testing

Hi all,

My name is Silvia , I'm 28 years old and I'm from Italy and I was diagnosed with breast cancer HER2+ stage 2 grade 3 Ki67 30% in March 2022.

I'm now under treatment with neoadjuvant chemotherapy and my surgery will schedule in October 2022.

I was diagnosed last week with ATM gene mutation.

Before the genetic test result with my oncologist and surgeon we talked about lumpectomy and radiation, but now due to the genetic results, they suggested to going through certainly unilateral mastectomy (right breast) and to thinking about bilateral prophylactic mastectomy.

I'd like to know is there someone else with HER2+ with mutated ATM that has chosen lumpectomy+radiotherapy, unilateral mastectomy or bilateral prophylactic mastectomy? What did you choose and what did they recommended?

I need some advices and sharing information for a better choice.

Thanks all



  • kaynotrealname
    kaynotrealname Member Posts: 275
    edited July 2022

    I have a good friend who was diagnosed with the ATM mutation after having breast cancer. She chose a double mastectomy because she figured if she got breast cancer once the chances that her mutation would rear it's ugly head again was pretty good. Her doctors did give her a choice but that's the route she took and she doesn't regret it. She's 15 years out now with no recurrence.

    I will be tested for some genes next week although I've already had a double mastectomy due to high cancer rates in my family. In my experience doctors don't force the idea of mastectomy but if you have an increased chance of getting cancer either through a gene or family history they won't even remotely argue with you if you want one either. It's up to you though in regards to what risk you're comfortable with. It does lessen your risk to have a double mastectomy but if it's not for you no matter what you can always try to monitor through screening so that if anything does develop again you can catch it early.

  • silviatrvz
    silviatrvz Member Posts: 3
    edited September 2022

    thanks so much for your precious answer!
    Could I ask you if you know if your friend after the double mastectomy for follow up appointments is doing MRI or just ultrasound? And you know if she done it every 6 months or once a year?
    Thanks so much


  • kaynotrealname
    kaynotrealname Member Posts: 275
    edited September 2022

    I believe she had one scan the year after her diagnosis and that's it. She's been released but she does go to a cancer center to get her yearly exams that are pretty much just a physical. She has no breasts beyond the ones created by reconstruction so there is no mammogram and no MRI recommended. And from my understanding ultrasound is never considered a good screening option unless something is known to be there already.

  • jasmine000
    jasmine000 Member Posts: 5
    edited February 19

    Hello; I am heterozygous for the ATM mutation and I was recently diagnosed with DCIS in December of last year (41 years old). I had a lumpectomy about 4 weeks ago but I am actually considered going back in and just getting a bilateral mastectomy. I didn't really do a lot of research on the ATM before I made my choice. Ironically I started researching more on just the mutation and I did find out that I could be more sensitive to the radiation therapy. I did not know this before I made my decision for treatment. My Radiation oncologist said clinical studies are mixed for people like me; I could have similar side effects to people without the mutation or have more side effects and it could possibly take longer for me to heal. He actually really wanted me to consider the mastectomy because of the mutation and also because I have high anxiety of the diagnosis and returning cancers in the future. So; I am meeting with my surgeon this week and I am going to be discussing options for having a mastectomy. I have been struggling with the decision process ever since I was diagnosed. Hopefully my surgeon can provide me with some options.