ATM Gene Mutation-Anyone else?

Hi Anne,

I tested positive for the ATM vus. As I understand it at this point they don’t know what significance that represents for me, so I just have to wait until more studies are concluded and compiled. I have seen others on here who have tested positive for the mutation as well. According to my research, radiation treatments may be problematic for thosewith ATM mutations. Sorry to hear of your mom’s battle. Prayers for you, and I hope we all can learn from each other as we try to figure out what our genetics may mean for us.

I'm having a lumpectomy today and the surgeon called me yesterday to say genetic results were back and I'm positive for ATM. She said that doesn't change the need for lump today but does "add a wrinkle" in possible treatment plan since ATM folks have a higher radiation sensitivity. My uncle had Hodgkin's disease in his 20s and died of liver/pancreas cancer in his late 40s so I wonder now if he carried the ATM gene as well. I'm supposed to talk to a genetic counselor to sort all this out. I have had several odd "1% of the population" health issues over the years so I'm not particularly excited to once again join the "outliers" group in breast cancer. I have papillary carcinoma (1-3%) and now ATM mutation (1-2%). The surgeon said that very little is known about ATM and that in 10 years they will know quite a bit, which I suppose will be helpful to my daughters.

The cancer in my left breast was discovered during a routine mammogram. After ultrasound and biopsy, I was referred to a genetics counselor as part of a team of surgeons, oncologists, etc. That genetics test showed positive for ATM mutation, which explains the number of cancers in my extended family. An MRI revealed a mass in the right breast as well, which can't be identified via mammogram or ultrasound, so it's likely not cancer, but it can't be biopsied except via another MRI. My team does not recommend lumpectomy and radiation, because of ATM gene sensitivity to radiation. I believe that a double masectomy is the best option for me.

Hi Anne!

I too tested positive for the ATM gene mutation. The genetic counselor went over my results with me and explained that certain bits of my gene were deleted, predisposing me to an increased risk of particular cancers. Here's my story if you're interested. I'm happy to chat and feel like after all I've been through and have actively researched pretty darn thoroughly, I might be a pretty decent resource!! Please feel free to ask if there's anything I can answer or help with!

I never had breast cancer. However, I had already had my fair share of cancer - at age 25 I was diagnosed with Stage 4 Non-Hodgkins Lymphoma....an aggressive weirdo type of lymphoma that doesn't particularly show up often in my age group, and that primarily manifested as a large tumor in my mediastinum (aka chest/torso). I did chemo, (an experimental chemo drug added into the standard protocol as well.) and radiation as well. That was because at the time, I didn't know I had the ATM gene mutation. I regret the radiation - it was "consolidative treatment" and I could probably have gotten by ok without it, but it was "to be sure" and I sure as hell wanted to be sure we killed it dead. Haha! I was taking no chances after all that. (Or so I thought!) Fast forward .... I end up fine, NED.

The following year I end up having a hysterectomy. I went from normal pap smears my whole life to that point to suddenly showing low-grade abnormal cells on my cervix, kind of out of the blue. my doc told me it was common, not to worry, easy treatment and usually that makes everything fine. they just do a quick little scraping off procedure of the cervix, a "Colposcopy" and then check back in a bit and re-test and then voila! you are good to go, back to normal. So i did that. Checked back in 6 months and instead of being fine, suddenly it had massively accelerated and was not only still showing up, but now high grade. I was then suggested to do another colposcopy, wait another 6 months and try again for better results. Not satisfied with that idea, given how quickly it had just accelerated over the past 6 months, I proceeded to seek a different doctor. Next one suggested the next step would be a cone biopsy - which the results came back showing CIN3, & unclear margins, which basically means the next little baby step to progressing into cervical cancer and they weren't able to get all it out/abnormal cells were present up to the edges of what they cut out. So who knows what may have been present in what was left behind. I then had to fight my way through 3 different doctors and the insurance because no one wants to give a 27 yr old a hysterectomy in Florida because of some screwed up morality/societal norms logic. (MIND YOU, I have never wanted kids, and even if so, I HAD NEVER COME OUT OF MENOPAUSE FROM MY PREVIOUS CHEMO TREATMENTS. My stuff didn't even work anyhow!! But good luck with me having a baby, that I can't produce and don't want, if i'm dead from cancer, right?!?) Finally I got to see an gynecological oncologist, who took one look at my file and agreed with me completely. it was a 5 minute chat and I cried tears of relief knowing I would be ok.

Fast forward. I end up having even worse menopause effects after the hysterectomy. (took my ovaries as well.) It gets to the point where it's really unbearable and debilitating. I couldn't work. I couldn't sleep. I couldn't function. The hot flashes were really severe. So I go back to my doc to ask about HRT. However, my family has had a whole lot of breast cancer in it and I knew that didn't jive well with HRT. So I looked into it and after some research, decided my best course of action would be a genetic test before deciding to give HRT a go. I'm ok with a tolerable level of risk if I was a normal person, but wanted to make sure I wasn't doing something flagrantly stupid first if I had a genetic breast cancer thing going on.

So I get my results. The genetic counselor said given my extensive family history of cancers (mostly breast and ovarian/cervical), my genetic screw up, my own previous cancer history, and radiation to my chest...she said it was all but a guarantee that I'd get breast cancer, and probably soon. My previous radiation was really the nail in the coffin. I had been through way too much bullshit just trying to stay alive and prevent my death at this point to get screwed by something I could do something about to avoid it. That was a tough decision to have the courage for though, when an actual cancer diagnosis isn't there yet. and there's a small chance that just maybe it never will be. But at the same time, I also felt like the test results made everything make a lot more sense. I no longer had to ever wonder what caused my cancer(s.) or those of my relatives. It no longer seemed quite so mysterious or senseless... it felt more explained. simply scientific. if that makes sense. Maybe you (and others) have felt some of the same?

I quickly scheduled my double mastectomy and have been undergoing reconstruction process for the past year. (mastectomy, tissue expanders...) it's not been without it's complications, but I knew that would be the risk going into it, from my previous damage to my chest. I finally just got my final squishy implants 2 weeks ago. I am so grateful to be done with it, after infection, a folded tissue expander that need to be removed and replaced so extra surgery, and a very long slow tissue expansion process, thanks to life/work getting in the way after the additional unexpected surgery. but!! I'm finally done and so glad to no longer have those weird looking, rock solid uncomfortable unmoving coconuts on my chest. But even more grateful to not have to worry. I've cheated impending death yet again! HAH! There was a small moment in my healing a few days ago where I felt a small pea-sized lump in the one boob and nearly had a heart attack. my PS says it's just the extra synthetic tissue he put it and that it'll smooth out over time. PHEW!!! But I can't underscore enough with even that tiny little scare how relieved I am to not have those worries and stresses on my mind and know my risk is dramatically decreased, to a level I shouldn't worry about and more importantly also the peace of mind of knowing that I've done everything I can.

My family was originally against me having the surgeries (hysterectomy as well) as they didn't understand the full gravity and seriousness of the very real risk I was facing statistically. They are also of the type to say things like "let god handle it. if it's meant to happen, it's god's will." Having sent them my new post-op photos, they've changed their minds slightly. I think they mourned for what they thought would be my loss, and were angry that I would have to undergo ("needless"?) suffering, and end up mutilated. this was all just my observations of their reactions and where I think they were coming from. Some unresolved and misdirected anger that I would have to go through all this, as previous breast cancer survivors they knew all too well. And hated. And don't get me wrong - there's days and times where I wonder if I really made the right choice and get sad about the things that are permanently different for me now that I don't love. However, overall I am happy with my physical/aesthetic results. They're not perfect, and they're not the same as what I had before, but I can live with them. they're really not all thaaaat bad, especially considering I can actually LIVE with them!! haha. I try to show my boobs to people when it matters - i'm not shy or quiet about my experience, because I hope that I can give other people the courage to do the same if faced with similar circumstances. i want people to know it can be ok. yeah, it sucks, but it can be ok. and more importantly, breast CANCER sucks more. DEATH sucks worst. I've lost a close friend to this, and if in instances where it's avoidable, in my humble opinion, I wish everyone would make the same choice i did. I have cousins that won't go get tested. they have children/are currently popping out more babies. I worry for them and hope I seeing my experience can change their minds.

Hi Ready,

So glad you received good news on yourmargins!

I have ATM vus and the geneticist said they don't have enough data yet to know exactly what it will mean for us. I know I have a lot of cancer in my family and am being monitored right now for new asymmetry in left breast. Just had a core biopsy on right and it came back as fat necrosis, but the lump is still there. I would love to know what your team tells you. I have had several tests and many have been abnormal, yet not cancer. That's why I am on a merry go round of wait and reimage. I have heard that radiation can cause problems for ATM positive people, but I am not sure if that is only mutations or vus too. Please keep us all posted on what you find out. I believe we are all going to have to share the information we gain in order to be best educated on how we should proceed with monitoring our bodies.

Thank you for posting and best of luck to you 😊

Thanks for that info. I’m like you and wonder if this will change as they gain more knowledge about the VUS. I don’t think there’s is enough solid data on it for them to be sure of anything at this point. I will take their opinion and continue doing my own BSE as well as following up with any means suggested. I guess those of us with ATM vus just have to count our blessings for now and be proactive with our own health. Best to all

I haven't been tested yet but my mom apparently has carried an ATM gene c.5290delC.

To ReadyAbout, mom's post-appointment report from the genetic counselor says "you were found to carry a genetic alteration (mutation)..."


Mutations are genes altered from their normal or wild type. So, I don't mean to be scary but I would suggest asking your genetic counselor about this again.

Her letter also said this is a moderate risk breast cancer gene, and carriers are at 2-3 x the risk of the average woman over a lifetime.
I will take the info some people were given here, such as associations with cancers in 40s or 50s and a SECOND in one's 70s.
The letter I got said the pancreatic cancer associated increase is likely 3-5%. My mom is 75 and doesn't have BC that we know of, although she has NEVER had a mammogram or sonogram in her whole life. But she was diagnosed with PC in October 2017.

We don't know of any relatives on her side of the family with BC. But back in the day people didn't talk much about their diseases. I do know my mom's grandmother lived to old age, and so did her mom. Her mom died of a stroke in her mid 70s. Her dad died at 78 in a car accident and was healthy at the time. Her half sister died of lung cancer in her mid 50s. SHe was a chain smoker, as was my mom's mom, as was/is my mom.

The letter also says basically that even if I test negative for this mutation, I may still be at an increased risk for PC, because of family history now. Well, it's the only gene she came up positive for after getting tested for lord knows how many gene alterations. Wish it has been zero but this is what it is.

The radiation issue scares me too. My GYN who was the one who reacted wildly over this (not the people at Memorial Sloan KEttering who ran the gene tests), and said to me "Oh, and they were so Laissez Faire right?", is pushing for my mammogram. But if she knows so much, why does radiation not concern her?

I mean, I too have read things about ionizing radiation and BC. What else causes targeted radiation at the breasts? Other chest X rays I guess. The sun? WHat else?

I have had no cancer diagnoses to date. I'm 48 and scared. However I will say a couple of things.

1. There's another thread here called "110 genes found associated with BC," or something like that. On top of which the article or something near it says that an estimated 5%-10% of breast cancers are thought to be hereditary. This means even if people did not have these genes, they could still get breast cancer. There may be more genes not known about, or there may be other factors involved. For those tested and found positive for ATM but not diagnosed, we don't know for sure what the future holds. Most of us don't. For those with the gene and diagnosed, there could actually have been other factors, related or unrelated, which caused this cancer.

2. This is a good piece someone sent to me when I expressed my worry. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5513673/#!po=27.1429

Thank you ReadyAbout. I wonder if an ATM mutation of VUS, differs in concern from my variant which is not of Unknown Significance to the best of my knowledge. I AM surprised that they said none of your daughters need to be tested, especially if you've been told little is known about ATM genes, and that the info gathered in ten years will be helpful. If as you say, there aren't 10 year longitudinal studies, what do they mean when they say they've known several women with your VUS variant and they are "fine?"

I also wonder why my letter then lumped all ATM genes into the 30% lifetime risk category?


Also just checking..you had the chance to speak to an actual geneticist about your situation, or a genetic counselor? I'm thinking of your line about when you asked the "geneticist" why your surgeon seemed alarmed....

Also, what does RO mean?

Thanks!

Okay so it sounds like you've spoken to both a geneticist and a genetic counselor. I'm really happy for you if your variant is of less harm than other ATM genes. I have had several mammograms over the years but now I'm thinking that I'm going to make my appointment for way past my scheduled blood draw date, because if I come up positive for my mom's ATM variant, I'm going to want to speak to some people about mammograms and using MRIs instead.

I think good geneticists are in high demand everywhere. I suspect one of the reasons counselors took off as a career path, is so that geneticists can use more of their time researching and less time speaking to patients. But this means that the quality of the counselor is important for the transfer of proper information.