ATM variant and Radiation

Dear Susan and abbie, welcome to Breastcancer.org! Until you get responses from other community members here, this is what you can lear on Other Abnormal Gene Testing for Breast Cancer such as ATM in our main site.

Hope this helps!

The Mods

Another option for all of you to consider is joining the prompt study (use the search function on this site to find my other posts on their research program). That consortium is pooling data from multiple sources, not just a single lab.

You may already know about the FORCE website which I also recommend for information & support.

The theory about zapping genetically mutated tissue with rads is that there might be greater risk of stimulating cancerous changes when the cellular ability to repair damaged DNA is already compromised by inherited factors.

A breast surgeon told us at a conference a few months ago that it could possibly be a good thing to avoid radiation when that kind of anomaly is present. If you have expertise from someone at an academic medical center available, it's great to get an educated opinion specifically about your particular situation. Knowledge is power!

I have a VUS on ATM too. Genetic counselor said that they don't know what it means and then asked if I had a BMX. I did. She said that it was a good decision but that there was nothing definitive yet. But her advice on that was also due to my age at diagnosis (30).

@Susan72. You might want to add the following thread to "My Favorite Topics": Anybody with the ATM gene mutation?

I also found out I am palb2 and atm after being diagnosed with recurrent stage 4 cancer when ultrasound found metastized lymph nodes in my axilla. I went ahead with surgery of lymph system and historectomy and now radiation. Hearing that radiation might be a mistake with the atm gene scares me since I've had only one rad treatment so far yet all the side effects already!

I also have the Palb2 and ATM mutations. I'm in the middle treating my recurrent breast cancer but am having a unusual reaction to radiation after only one treatment last Thursday. Drs don't know why and I don't know why but I'm reading some of these post that suggest there may be a correlation to ATM gene and sensitivity to RT. Drs are telling me I have to have radiation so I'mgoing for my second treatment today but feeling very apprehensive.

ck2day, I hope all is well with you! I sent you a PM.

Hi Cwilks66-

We want to welcome you to our community, although we're so sorry for the circumstances that have brought you here. We know it's a lot to process, and we hope you find this to be a supportive place to turn when you need it.

You have NOT been given a death sentence. But, positive genetic results can definitely impact your treatment and surgical options. We have some info on both the ATM and CHEK2 mutations on our main site, which you can find here: http://www.breastcancer.org/risk/factors/genetics. Also, for more info on the CHEK2 mutation, check out this forum forum topic: https://community.breastcancer.org/forum/112/topic.... It'll give you a chance to hear from other members and hopefully get a better idea of what you're dealing with!

The Mods

My BS said no to radiation with the ATM gene. Increased chance of a secondary cancer and I am not taking the risk. I was tested 8yrs ago but they only tested for BRAC. I was just retested and have ATM mutation. And found out that my cancer is now in other breast. So yes, I am having another mastectomy. But I am doing it bcs for 8 yrs I have had mammo, MRI and US every 6 months. That takes a toll on you mentally, always wondering. Just something to think about.

Hi Tomorrow21-

Many of the above posters mentioned that the location of the variation on the DNA strand is significant in determining whether or not this puts you at risk for radiation induced cancers. We would suggest speaking with a geneticist and/or radiation oncologist in depth about your genetic results; they can better determine your risk factors after seeing your genetic report, and hopefully get you some answers regarding radiation treatment.

The Mods

Dear connerdmc,

Here is a link to more information about ATM on our main site. You can also use the search function and search ATM mutation to find other posts about it. We hope this helps. the Mods

I tested positive and was told no rads as well.

If you have Ataxia-telangiectasia, where both copies of the ATM gene in each cell have mutations, then you likely also have radiation sensitivity.

If you have one mutated copy and one normal copy of the ATM gene in each cell, then it appears to me to be unclear. In my case, I am an ATM patient with one mutated copy of the ATM gene diagnosed with stage IIB breast cancer with a micromet to one lymph node after chemo. My radiation oncologist on the team who treated me believed me to be radiation sensitive and she based this on two similar ATM patients she treated, both of whom had bad scarring and one of whom developed a secondary cancer believed by her to be a result of the radiation treatment. This was a pretty small sample size, so I went for a second opinion on this from a different cancer center. The second team of oncologists (medical and radiation) said there is no clear evidence people with just one mutated copy are radiation sensitive. They based this opinion on a trial where 12 people total (another small sample size), six of whom had the single mutation and six of whom had the double mutation, all received radiation treatment. In that trial, the people with the single strand mutation did not suffer bad effects from the radiation, but the people with double mutation did. They also based their opinion, by analogy, on BRCA research where a double gene mutation causes radiation sensitivity, but a single mutation does not. In light of the study and BRCA research, the second opinion doctors recommended radiation treatment for someone in my situation. Ultimately, I decided to go with my original doctor's recommendation and opted not to have the radiation treatment. This was both because of the unclear understanding of the effects of radiation treatment in my case and also because I was told I was borderline even for someone without the mutation given the one micromet.

I don't know where you are being treated, but maybe it would be good for your peace of mind to get another opinion. Dana Farber does on-line second opinions if traveling is too much for you on top of everything else. If I were willing to travel, I also would have considered going to Memorial Sloan Kettering, MD Anderson, the Mayo Clinic or Johns Hopkins for a second opinion. If you do get a second opinion, will you please post about it? I would be very interested to know what other research facilities are saying about this.

Finally, and completely off topic, if you are having pain from your mastectomy, consider seeing your symptom management/palliative care team. Mine helped me enormously be prescribing Effexor XR for the nerve pain. It also helps with hot flashes, depression and anxiety.

Best of luck with all of this.

@hulksmash Thank you for sharing. I have an ATM variant hetero of unknown significance. I have had two teams of doctors say I should opt for radiation. I start chemo on 5.22.17. I have an appointment at John Hopkins for one more recommendation. I will share as I learn more