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Topic: ATM variant and Radiation

Forum: Positive Genetic Test Results —

BRCA 1 & 2, ATM, CDH1, CHEK2, MRE11A, MSH6, NBN, p53, PALB2, PMS2, PTEN, RAD50, RECQL, and RINT1 genes

Posted on: Feb 19, 2016 10:31AM

Susan72 wrote:

I am really looking for advice from anyone with the ATM gene variant or mutation. I got my results back and I called Myriad to talk to a genetic counselor. He told me that only one other person in the database has my variant. c.121A>G (p.Lys41Glu). I had 4cm of DCIS removed, low grade, ER and PR + (no necrosis, etc.). My plan was for radiation and tamoxefen. Then I saw on one of my DCIS Facebook boards someone mentioned concern over the ATM gene and radiation. I have since researched like crazy and my head is literally spinning. I have two children under the age of 6 and my only goal is to live. I also have several autoimmune diseases including hashimotos, sjogrens and celiac. My local genetic counselor would like me to go to a larger research hospital to meet with a geneticist with more access to the "latest research". Can anyone here shed light on the radiation and ATM concerns. My radiation oncologist was not concerned. My medical oncologist is doing more research.

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Feb 25, 2016 06:40PM abbie06 wrote:

Hello. My sister was diagnosed with breast cancer about 2 years ago, and she had genetic testing. She tested positive for the ATM gene so I was tested and carried the same gene (ATM mutation: c.368delA (p.Tyr123LeufsX6).

As of right now, I do not have breast cancer, but I am being followed by an oncologist who recommended a complete hysterectomy which was done in December 2015. Followed closely with MRI's and regular mammograms.

The ATM gene is found in only 1% of the population and seems we are still learning about it. I am faced with what to do?? Be proactive or continue with MRI's and mammograms every 6 months.

Most people have never heard about this gene but my oncologist specializes in this particular one.

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Feb 26, 2016 10:19AM Moderators wrote:

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!
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Mar 2, 2016 12:39PM momof322 wrote:

Abbie/Susan - I just recently tested positive for the ATM and the PALB2 Gene. I dont even have an oncologist, but my OB doctor said I should do a mammogram asap and 6 month MRI's. I also read that radiation is not good for people with this Gene mutation. Im worried if this is the best thing for me or should I look at other preventatives. I want to die of old age, not cancer. Did either of you test positive for other gene mutations or just the ATM? Erin

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Mar 3, 2016 10:41AM - edited Mar 3, 2016 10:42AM by vlnrph

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!

IDC too! Rt MX+DIEP 4-2011; ALND 5-2011 d/t micromets; TC X 4; tamoxifen; lymphedema as of 9-18-11; switch to letrozole 3-15-14; Discovery made during chemo=I'm a human BEING, not a human DOING Dx 3/7/2011, ILC, 2cm, Stage IIA, Grade 2, 1/25 nodes, ER+/PR+, HER2-
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Mar 3, 2016 03:50PM Susan72 wrote:

My doctor at Fox Chase spoke with a geneticist. What they are telling me is that the location of my genetic mutation on the DNA strand is located very far away from the known problem areas on the gene that are associated with radiation problems. My understanding is that my specific mutation is not located in an area where there is a problem with proteins and dna repair. Does this sound right?

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Mar 4, 2016 01:00PM clarrn wrote:

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).

30 years old at dx, Implant lost due to infection. Open wound packing for 108 days :( Dx 12/4/2013, DCIS, 6cm+, Grade 3, ER+/PR+ Dx 1/29/2014, IDC, 1cm, Stage IIB, Grade 3, 1/3 nodes, ER+/PR+ Surgery 2/27/2014 Mastectomy: Right; Prophylactic mastectomy: Left; Reconstruction (left): Silicone implant, Tissue expander placement; Reconstruction (right): Tissue expander placement Chemotherapy 4/8/2014 AC + T (Taxol) Radiation Therapy 10/15/2014 Breast, Lymph nodes Surgery 2/27/2015 Reconstruction (right): Silicone implant Surgery 3/23/2015 Reconstruction (right): Silicone implant
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Mar 29, 2016 04:12PM Metta wrote:

Susan, thanks for starting this thread. It's great that your doctor is listening to your concerns. And that's great news that your mutation is most likely not going to result in radiation-induced cancer. I asked the same question, and my radiation oncologist refused to even discuss it. (She's a good person otherwise.) I'm happy to hear that some doctors are taking it seriously.

I have a VUS on the ATM gene called c.6067G>A (p.Gly2023Arg). Despite the possible chance of future cancers, I proceeded with radiation because I was node-positive. I hope that wasn't a mistake. We will see.

I enrolled in the Prompt study. The more information researchers have, the better.


I hope you're doing well. Cancer treatment with two kids under six sounds really tough. Hang in there.

Dx 10/7/2014, IDC, 2cm, Stage IIB, Grade 2, ER+/PR+, HER2+ Chemotherapy 11/11/2014 AC Chemotherapy 1/7/2015 Taxol (paclitaxel) Targeted Therapy 1/8/2015 Perjeta (pertuzumab) Targeted Therapy 1/8/2015 Herceptin (trastuzumab) Surgery 4/16/2015 Lymph node removal: Sentinel; Mastectomy: Left, Right; Prophylactic mastectomy: Left
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Mar 29, 2016 04:36PM JohnSmith wrote:

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

Wife was Age 45 at Dx 4/2014. BMX Surgery 6/2014 revealed: ILC, Stage 2 (Multifocal ILC, largest lesion 2.2 cm), Grade 2, ER+/PR+ (95%), HER2-, Ki-67 5-10%, Oncotype 11; Variant in the ATM gene Dx 4/8/2014, ILC, Left, 2cm, Stage IIA, Grade 2, 0/3 nodes, ER+/PR+, HER2- (IHC) Surgery 6/25/2014 Mastectomy; Reconstruction (left); Reconstruction (right)
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Apr 6, 2016 01:37PM momof322 wrote:

Since my genetic testing confirmed positive on the ATM and PALB2,I have completed my MRI and they found something that they are worried about.I immediately did a mamo and Ultrasound. From what I understand it's a cyst attached to tissue that needed to be biopsy "d yesterday.Im worried that this makes this more alarming for me,and the waiting part it so hard.Has anyone experienced this with beingATM positive?

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May 1, 2016 09:26PM ck2day wrote:

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!

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May 1, 2016 09:28PM ck2day wrote:

Did you have very bad side effects from the rads

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May 2, 2016 04:33PM ck2day wrote:

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.

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Sep 9, 2016 10:17AM suki1724 wrote:

Mom of 322, how are you doing? I am also ATM, PALB2, and I have an unknown variance of PTEN. I am heading this morning for my 6 month mammogram/ultrasound and will be deciding about a prophylactic mastectomy probably based on results today. I had a hysterectomy with ovary removal 10 years ago, because I was having "worrisome" ovarian cysts and lots of pain with them. I didn't have any knowledge of my mutations at that time, and I'm so happy that it's one thing I don't have to worry about at least.

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Sep 9, 2016 11:56AM suki1724 wrote:

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

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Sep 9, 2016 04:29PM cwilks66 wrote:

So my story (sorry but it's leading to the genetics). I was diagnosed 8/8/16 with a .7cm "growth" the my doc said didn't even qualify as a tumor yet. So small, nothing could be felt and I had to have the seed implant. Had the lumpectomy last Friday & it came back from pathology Tuesday that I had small margins so he wanted me back in & we scheduled for the 16th. When they first discovered the cancer, I insisted on genetics testing because my mom, aunt & both grandmothers had BC. The BRCA's both came back negative so, woo hoo! Party time, right? Doc calls yesterday that I have an ATM pathogenic mutation & also a chek2 mutation. So in a month, I went from doc saying, "no problem, totally curable" to "it may be time for a double". Can someone give me a little more insight on the mutations? Have I been given a death sentence?

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Sep 9, 2016 09:57PM Moderators wrote:

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!

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Sep 11, 2016 08:48PM Susan72 wrote:

I had a gazillion experts chime in on this, and in the end, they all agreed that the location of my variant on the DNA chain was SOOOOO far away from any known areas of concern with radiation. I went ahead with the radiation and go for my 6 month scans next month. Myriad (the company that did my genetic testing) along with the geneticists at Fox Chase Cancer center spent a lot of time explaining the location of my variant etc. It was very very helpful. I feel like I made the right decision based on my discussions and research.

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Sep 11, 2016 08:51PM - edited Sep 11, 2016 08:51PM by Susan72

I also wanted to say that I had a Variant of Unknown Significance, which I think may be slightly different. And none of this is a death sentence. You caught all of this very very early. You are being proactive. It is so easy to get scared and go to the worst case scenario. I was there months ago. Do your research and meet with a geneticist. It will all be okay. I had small margins and they did go back for me and got clear margins.

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Sep 22, 2016 05:53AM cwilks66 wrote:

This has all been such a roller coaster since I posted (sorry for the panic). I met with the genetic counselor & she said that I have a 50/50 decision as to whether to go back in for a re-incision to clear my margins and then do radiation or just do the double prophylactic - I didn't ask her about the location of the mutation in the gene but I'm definitely going to. The radiation oncologist says that she only knows that if the mutation is in the double strand of the DNA, radiation is out. I only have it in a single strand, so she doesn't know if it's an option or not. If not, the only choice I have is the mastectomy. She's going to bring my case to the hospital board next Tuesday and see what they say. Almost every doctor I've gone to doesn't know anything about or has never heard of ATM. When I walk in the door they tell me that they had to do research before they met me. My surgeon, 2 plastic surgeons, 2 oncologists & my GP all say to do the mastectomy. My brain sees the logic & practicality but every cell in my body is screaming, "No freakin' way". It's so easy for folks to say, "just take them off" but when you're actually facing the decision, it's an entirely different story. I get confused looks when I tell people what's going on and then tell them I'm losing sleep over the decision. So now, as I am doing more and more frequently, I wait.

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Oct 3, 2016 07:08PM Bigdogzmama wrote:

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.

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Oct 30, 2016 09:07AM Tomorrow21 wrote:

Hi - I was diagnosed with IDC in September, stage 1A, grade 2. I had a lumpectomy and sentinel node biopsy 2 weeks ago where 5 things came out: the 1.6 cm tumor, a LCIS found on MRI, and 3 nodes that were clear. On my genetic testing I was cleared for all except a variance of unknown significance (VUS) on the ATM gene. I had an Oncotype dx done but don't have results yet. I'm worried about information that with an ATM mutation, it's not safe to get radiation treatment since my BS is leaning towards hormone therapy with radiation. Does anybody have more information on this?

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Oct 30, 2016 05:20PM Moderators wrote:

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.

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Nov 16, 2016 11:40PM connerdmc wrote:

I was diagnosed with IDC and DCIS in Feb. Had a lumpectomy with clean margins and sentinel lymph node biopsy that was clean. I did 21 radiation treatments that ended in May. They finally did genetic testing and I tested positive for ATM. I am having a double mastectomy in a few weeks. I am worried though because of everything I have read about rads and ATM being bad. My genetic report says I am "heterozygous for the c.4741dupA pathogenic mutation ATM" What does that mean?

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Nov 17, 2016 12:38PM Moderators wrote:

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

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Dec 18, 2016 04:50AM NorthBrooklyn wrote:

Hi Metta,

I know this is an old thread but I found it when researching my ATM anomaly and I saw that you have the same one. I'm having my initial consultation with a radiologist next week--already had chemo and BMX--and trying to find out more about the possibility of worse side effects and/or treatment area radiation-related future problems. Did you come across any research specifically involving 6067? I found some (most 10-20 years old though) about ATM anomalies in general.

Thanks, and hope you're doing well.

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Dec 21, 2016 06:43PM farmerjo wrote:

I tested positive and was told no rads as well.

ATM gene mutation, Lynch Syndrome, On HRT for 17 years at dx. Oncotype 19, MammaPrint high-risk. Ki67 29.1% ER 90% PR 5% False-negative sentinel node biopsy Dx 1/26/2015, IDC, Left, 2cm, Stage IIA, Grade 2, 0/1 nodes, ER+/PR+, HER2- (FISH) Dx 2/13/2015, DCIS, Left, <1cm, Stage 0, Grade 3, 0/1 nodes, ER+/PR+, HER2- (FISH) Surgery 2/13/2015 Mastectomy: Left, Right; Reconstruction (left); Reconstruction (right) Hormonal Therapy 4/13/2015 Femara (letrozole) Dx 5/31/2016, IDC, Left, Stage IIB, Grade 2, 1/11 nodes, ER+/PR+, HER2- Surgery 6/17/2016 Lymph node removal: Left Chemotherapy 8/1/2016 AC + T (Taxol) Hormonal Therapy 12/21/2016 Aromasin (exemestane) Surgery 1/18/2017 Prophylactic ovary removal
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May 17, 2017 04:39PM TerezP wrote:

Anyone have more information about ATM and radiation? I have the homozygous c.4768 C>T (p. Leu 1590Phe There seems to be no clear information. Thank you. I have Stage 111. I had 5 rounds of chemo and a masectomy last week with 14 lymph nodes removed. 7 were positive.

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May 17, 2017 05:38PM HulkSmash wrote:

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.

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May 17, 2017 06:03PM TerezP wrote:

Thank you for your information. I really appreciate it.

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May 18, 2017 08:55PM Stacy_S wrote:

@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

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