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ATM, the new BRCA?

greenmeadow Member Posts: 1
edited January 2022 in Genetic Testing

I was diagnosed with DCIS in February 2015. No breast cancer in my family, but multiple other ones, prostate, lungs, pancreas (father), bladder, throat. My genetic testing came back with this high risk for breast cancer due to a fairly new discovered gene mutation called ATM. Same gene is responsible with pancreatic cancer. I understand from my doctors that they don't know a lot about it so far but they treat it as BRCA. Anybody else sharing the same mutation?


  • melissadallas
    melissadallas Member Posts: 929

    Here's a thread:

    There are some other discussions too. Try the "search" function on the menu

  • Lovebird65
    Lovebird65 Member Posts: 2

    I just got back genetic testing positive for ATM gene. Am waiting to meet with genetic counselor and researching like crazy. Will post as I get info.

  • meredamon
    meredamon Member Posts: 3

    My testing came back with the ATM result as well. Haven't met with my Dr as of yet but am anxious because there doesn't seem to be much info out there about it. What I have read has suggested that 1 in 300,000 have an ATM variant. I am 58. My mother died of breast cancer at age 62 from an "aggressive type". Her cancer was found after a routine mamo at age 60. I am scheduled for mamo next week because of symptoms I had a couple of months ago but have always had annual mamos since age 40. Now I'm reading that radiation isn't tolerated well if you have the ATM???? Worried.

  • Novmoon
    Novmoon Member Posts: 41

    i was diagnosed with left IDC and was supposed to have lumpectomy and radiation. Surgeon advised genetic testing and I was told the ATM was positive and could not have radiation. Ended up having bilateral mastectomies with tissue expanders for reconstruction. Just saw oncologist and awaiting test results to determine if chemo is warranted.

  • meredamon
    meredamon Member Posts: 3

    Mammogram and ultra sound was normal. Understanding that the ATM variant is being studied but is not considered the new BRACA. I spoke with a person at the testing center. They would test other family members for the ATM variant, without charge, if were to develop cancer. My children would have a 50/50 chance of also having the ATM variant.

  • Summermac
    Summermac Member Posts: 3


    I'm new here. I'm 28 and my genetic testing came back positive for the ATM Gene Mutation. I work at a state of the art cancer center in Jacksonville, Fl and have met with some of our top oncologists! My choices have really come down to mammo/MRI every 6 months for the rest of my life and then also discussed prophylactic bilat mastectomy - which is what I am doing.

    The guidelines for the ATM gene mutation is ever evolving, but depending on where you go, there are educated people on the mutation. It's still new, so the guidelines aren't 100% clear.

    Best of luck to you!

  • sftlm
    sftlm Member Posts: 1

    I too have tested positive for the ATM gene mutation - found out two weeks ago. I never gave much thought to cancer before....just thought that most people encountered some type, you treated it and then moved on. I had a very small DCIS at 53 with a lumpectomy. Two years later my brother (age 54) fell and broke a rib and it was discovered that he had metastasized prostate cancer throughout his body. He died two months later. As I began looking back at my family I remembered that the same thing happened to my Uncle who passed at 54 - same thing he woke up blind one day and found out that he had metastatic prostate cancer. I started looking back and saw that all of my family members ( although my Mother passed from Parkinson's Lewy Bodies) had either breast or prostate cancer, with the only other living relative being an Uncle who is in treatment for prostate cancer.

    After my brother passed I thought I had really overlooked the gift I was given when with the discovery of the earlier cancer and began to look for some one to assist me with more testing. Finally after a year I found Dr who said I should have an MRI. The MRI found one suspicious "bubble" on a lymph node. After biopsy, the surgeon notified me that my previous pathology report show inconclusive clear margins. He recommended a mastectomy - for some reason I asked for a double. During surgery they found 10 cancerous lymph nodes and two additional Lobular tumors.

    Just got over a Pseudomonas infection with TE removed and now I have seroma in my left armpit 3/4 the size of a golf ball.

    I feel like I am living a Clint Eastwood movie - "How lucky do you feel?"

    Sorry so long - I needed to vent...

  • traveltext
    traveltext Member Posts: 1,051

    That's an interesting family history of cancers sftim. Prostate and breast cancer do go together and family members with one will often find a relative with the other. My mum died young with bc, and I got it three years ago aged 63. Last year I got prostate cancer. Fortunately, I've been well treated for both and am NED.

    My genetic test showed I had an unknown variation of the BRCA gene. This ambivalent result means everyone in the family has to remain alert for cancers, but not necessarily take prophalactic treatment.

  • CassieS
    CassieS Member Posts: 8

    I also have the ATM gene mutation. Diagnosed with bilateral bc at 32. Double mastectomy and chemo. Finished chemo in 2016 and doing well now! Seems hard to find out what is appropriate for follow-up monitoring, however, especially given the gene mutation. I haven't ever had a full body scan/PET scan or anything, but do go in for checkups every 4 months. What protocol are the rest of you following?

  • shycat
    shycat Member Posts: 45

    I have "variants of unknown significance" for both ATM and BARD1. My ATM variant was the first time that particular variant was reported in the database so no one knows what to make of it. My MO offered additional screening for pancreatic cancer (e.g., ultrasounds every six months), but I passed. Que sera, sera.

  • wquinndecatur
    wquinndecatur Member Posts: 2

    I just received a positive result for the ATM Gene Mutation yesterday. My mother died of breast cancer at the age of 59; my grandmother died of ovarian cancer at age 28; and my cousin was diagnosed with breast cancer at age 43. Many other relatives (all on my mother's side) have had cancer. Receiving this result is very overwhelming. I hadn't even heard of the ATM Gene Mutation until I got my results. It seems that almost all the articles that I'm finding are about BRCA and there is very little about ATM. My genetic counselor told me that I would need to be screened with Mammo/MRI every six months for the rest of my life. Mastectomy wasn't recommended as an option and I'm wondering why not, at least for my peace of mind.

  • BarredOwl
    BarredOwl Member Posts: 261

    Hi wquinndecatur:

    By "positive" do you mean the test result was positive for a "pathogenic" mutation in ATM or was the particular mutation discovered a "variant of unknown (or uncertain) significance"?


  • moderators
    moderators Posts: 7,887

    Hi wquinndecatur, and welcome to!

    We're sorry you find yourself here, but we're glad you found us. You're sure to receive lots of great support and advice!

    For some more information on ATM, you may want to check out the main site's page on Testing Positive for Less Common Gene Abnormalities as well as the Risk Factor page on Genetics.

    We hope this helps and that you get answers soon! Please check back in and let us know how you're doing.

    --The Mods

  • Novmoon
    Novmoon Member Posts: 41

    Hi Wquinndecatur! I too have the ATM gene found on genetic testing after a positive biopsy on one side. I was originally scheduled to have a lumpectomy, but after it was determined I had the ATM gene, I was told that was not possible because those with ATM gene are not able to have radiation following lumpectomy. My only option at that time was mastectomy on the left side. My BS said I would need the 6-month MRIs to monitor the right side or I could have it removed prophylactically since there was a 50% chance it would occur on that side I did not want to go through more tests and biopsies, so I elected to have both removed. I lucked out and had a low Oncotype test following surgery and did not have to have chemo. I do have to take letrozole for at least 5 years which is no picnic, but I can live with it. I will be 1 year postop in July.

  • wquinndecatur
    wquinndecatur Member Posts: 2

    Hi BarredOwl,

    The result was positive for a "pathogenic" mutation in ATM, putting me at high risk for breast cancer

  • BarredOwl
    BarredOwl Member Posts: 261

    Hi wquinndecatur:

    Thank you for confirming that. What is known about the increased life-time risk for various cancers associated with a specific pathogenic mutation as well as family history may be factors in the advice that each patient receives.

    Because different pathogenic mutations in the same gene may confer different levels of increased risk, patients with different mutations in the same gene can sometimes receive differing medical advice. The presence of very significant family history may also lead to differences.

    I recommend that you ask your Genetic Counselor to explain the particular reasons why she recommends surveillance rather than prophylactic surgery in your specific case at this time. Hopefully, she will explain (or you can request that she do so) things like: What is and what is not understood about the specific pathogenic mutation found? What is the strength of the evidence, caveats or limitations? What is your estimated life-time risk for breast cancer (is up to age 70? age 80? or what?), and how does that compare with a normal risk patient of your age? What do clinical consensus guidelines from NCCN generally recommend regarding surveillance versus surgery for your level of risk? At what level of risk is prophylactic surgery generally considered or recommended under consensus guidelines? Is she relying on any other guideline or published "counseling framework" in making her recommendations? You may wish to request copies of references or citations.

    If there are some open questions about the level of risk conferred by the specific mutation, it is possible that over time, more information will become available refining understanding of risk. In any case, you should periodically check in with your Genetic Counselor to inquire if any new information is available that affects understanding.

    A second opinion may also be very helpful to you, perhaps at an NCI-designated cancer center.


    The following is provided as background information only, to inform discussions with your Genetic Counselor. It is not a substitute for current, case-specific advice from an expert medical genetics professional.

    NCCN Guidelines - Genetic/Familial High-Risk Assessment: Breast and Ovarian:

    Available for free with free registration.

    These guidelines are updated from time to time, so please check the website periodically for the latest version.

    For ATM, see Chart GENE-2 ("BREAST AND OVARIAN MANAGEMENT BASED ON GENETIC TEST RESULTS") and all footnotes. See also, the Discussion section.

  • Bcrockett4
    Bcrockett4 Member Posts: 1

    Hi! Anyway you could let me know about Drs in the Jax area. Newly diagnosed and having a very hard time even getting mammogram.

  • sunshine99
    sunshine99 Member Posts: 2,583

    Bcrockett4, I noticed that this is a really old post and the last poster hasn't been seen here since December of 2019. You might try starting a new discussion under this topic and hopefully you will get some responses.

    All the very best to you,