DCIS in 1 breast, positive for ATM mutation

countdooku

So I have 2 tumors in my right breast. Had 2 biopsies for docs to examine both of those, was diagnosed with DCIS.  Original treatment options were lumpectomy + 4 wk of radiation of mastectomy.  Despite my DH's protests, I chose mastectomy and surgery is scheduled for Wednesday of next week.

I also had genetic testing done (where you spit in a tube). Results took 10 days to come in.  Based on family history, they checked me for 32 different mutations associated with breast, pancreatic, and prostate cancer.  I tested positive for one - ATM.  Results were also sent to the breast surgeon.  Breast surgeon's new recommendation based on this result is double mastectomy.  So that's what I'm having.  Same surgery date.  I have a pre-op appointment with the reconstructive plastic surgeon later this week. And follow up appointment with the genetic counselor tomorrow.

I feel like I've dodged a bullet.

SimoneRC

Hi countdooku!

I am a fellow ATM’er! I too had a bilateral mastectomy and no radiation. I have a first degree relative who developed radiation induced plexopathy and a secondary cancer so radiation was off the table for me. I have not looked back or regretted the bilateral mastectomy. I don’t know your age, but be sure to ask your genetic counselor and/or genetic oncologist about additional screenings/risk reducing procedures that may apply.

Good luck! Please keep us posted! Sending positive vibes your way

countdooku

Hi SimoneRC,

I have a follow up appointment tomorrow with the genetic counselor.  The stuff you mentioned re: additional screenings, etc. are definitely questions that I was planning on asking about. I'm sorry to hear about your relative's issues!  I'll be honest...I had to look up what radiation induced plexopathy was.  Holy cow! Stuff like that was not mentioned as a possible side effect to radiation.   

SimoneRC

Not all ATM mutants have issues with radiation. My family evidently does. I hope the appointment gives you lots of good information

Elena1963

Hi

I have ATM mutation too, what did you doctors said to you?

Is it really increase the risks of breast cancer?

SimoneRC

Hi Elena1963!

Sorry you find yourself here. ATM mutation is typically a moderate risk. It is linked with an increased risk of breast cancer, 20 - 60% increased risk. Different mutations of the ATM gene seem to carry different risk profiles.

Due to my mutation and family history, I cannot have radiation unless there is no alternative treatment available. There has also been a link with contralateral breast cancer. I had a bilateral mastectomy and am taking AI as I have ER+PR+ HER2 - IDC.

There is also an elevated risk of ovarian cancer, and maybe uterine cancer. Due to this and my family history, I had a total hysterectomy and BSO (removal of ovaries and tubes).

There is also a link to colorectal cancer. Due to family and personal history I have a colonoscopy every year.

There is an increased risk of pancreatic cancer, but only in families with a history, so I do not do any additional surveillance for that.

Have you had genetic counseling yet? If not, perhaps that is something you might want to consider.

Keep us posted

countdooku

My breast surgeon recommended to do a prophylactic mastectomy on the healthy breast given the ATM mutation diagnosis. I had a double mastectomy.

Elena1963

Thanks

In other than US countries ATM is not the subject to do prophylactic. You need to take second opinion , even if you are self payer they don’t do that

Breezystar

I had <2cm DCIS breast surgery and 20 cycles of Radiation a couple of months ago. I am 66. I asked for a Onco-DX test but surgeon didn't feel it was necessary. I didn't trust my gut feeling and went with the "standard recommendation" of Lumpectomy + radiation. There was only one known relative with BC in my family, a cousin. I was unaware that my dad's family had a lot of pancreatic and stomach cancer amongst his siblings at the time. Post surgery, I requested genetic testing and just learned that I am a carrier of the ATM variant gene. I am very worried about what comes next, . Now I have many regrets about the Radiation and wonder how my health has been comprised because of the whole breast radiation in my body and having ATM variant. The genetic test results were given to me over the phone from the genetics counselor. I met with my breast surgeon and radiation oncologist a day or two later and they said ATM variant hasn't been studied as much as the other gene variants, so, they both seemed very casual about it. They said studies are mixed as to the ATM variant and Radiation. I'm in panic mode. I feel unsupported by my team. They thought I was overly worried and suggested counseling. I am now looking to find a high risk university clinic to take on my case.

Any one else with a similar experience. Also, what are your recommendations.? Any fellow ATM variant carriers that have also had radiation therapy?

SimoneRC

Hi Breezystar,

Welcome and sorry you are here! I did not have radiation but wanted to say hi and leave you with a few thoughts.

I would contact an academic National Cancer Institute Hospital and make an appointment with genetic counselor and genetic oncologist, or have your current oncologist refer you in.

ATM with radiation can lead to contralateral breast cancer. I would ask about recommendations since you had the radiation. Additional screening, bilateral mastectomy, etc...?

Aside from brachial plexopathy, I would ask what other complications and cancers are you now at a higher risk for as an ATM'er who has had radiation and what additional surveillance or procedures do the recommend?

You already had the radiation. You cannot change it. You may be just fine. Not all ATM'ers have issues.

There is a Facebook group for ATM with Breast Cancer. You may want to join that.

Hang in there. Be your own best advocate. Try to get seen and/or treated at an NCI Institute. Good luck and please keep us posted!

Breezystar

Do you know if insurance will cover an elective Mastectomy after having had a Lumpectory? And, under these circumstances and with the ATM mutation, is it harder on the body to recover and repair itself?

SimoneRC

Hi Breezystar,

I do not know about your insurance question. I am guessing your surgeon may be a good place to ask.

I have had 4 surgeries since diagnosis. 7 in my life. My sister has had 8 surgeries. Neither one of us has had any issues with recovery, nor were either of us cautioned about any issues with recovery with ATM. I have not read about or heard from other ATM’ers about that being an issue.

Meowmmy65

Hi everyone,

I'm new to this "group" as well! Diagnosed 2 years ago, triple positive, and a good candidate for lumpectomy. Went through 1 1/2 years of chemo with targeted therapy infusions and 4 weeks of radiation. With Ashkenazi heritage and a family history with multiple cancers, I did the genetic testing about 1 1/2 years ago when I was still in chemo. Came back with 3 variances of unknown signifigance and an assurance that those usually (not always) end up being nothing. A few weeks ago my genetic counselor called with the new result - positive ATM variance. My daughters and 5 siblings are now being tested. I just hope they all come back negative.

I appreciate all the information you have shared SimoneRC. You've certainly been through a lot, and have more information about this variance than the rest of us. I'm trying not to overreact, but to gather information and make decisions from a place of knowledge. But I can't help it. I am wondering if I would feel better with a mastectomy.

Lots to think about!

MBPooch

Meowmmy65 - When I had genetic testing done about a year and a half ago the only finding was ATM variance of unknown significance. Are you saying that was your experience as well but then you recently got a call out of the blue saying that was not the case and it was actually an ATM mutation? For the most part I don't think about BC like I used to but all these things are always in the back of our mind!

Meowmmy65

MBPooch - yes. It WAS a variance of unknown significance, and now it is associated with a high cancer risk. They are always researching and getting new information.

Caclcax6

Hello y’all new on the page. I recently was told I have the same ATM VUS as my Mother (c.5821G>C. Val1941Leu). My Mother had breast cancer ( with14 out of 16 lymph nodes from her armpit with Cancer) back in 1998. Mom also had Uterine cancer (Sarcoma Carcinoma), Metastatic Thyroid Cancer and skin Cancer that spread through her body all within the years 2016-2017. My beautiful and courageous Mother lost her battle on October 13,2017. She battled these horrible Cancersher last year with grace, love and strong faith. My Mother is my true hero. I’m joining this page for support and any information from other with this ATM diagnosis. Thanks.

SimoneRC

Hi Caclcax6!

So sorry to hear about your Mom's terrible journey. It sounds like she had quite a tough time.

Your Mom's history could be linked to the ATM VUS or some other undiscovered mutation. However, with her history and your sharing the same mutation you must be concerned!

Have you met with a genetic counselor and genetic oncologist yet? If not, you may want to do so. Personally, I would no that at a National Cancer Institute, even if you have to make a longer drive or take a flight. I have found that non academic medicine is not as familiar with ATM. In my opinion, you are more likely to get more up to date recommendations at an NCI Hospital.

It sounds like you have not been diagnosed with any cancer, which is a great thing! Not everyone with a family history and a VUS ATM mutation (even pathogenic ATM mutation) develop cancer. BUT, the good news is that you will be able to have more aggressive surveillance and/or risk reducing procedures.

If you have any specific questions, feel free to reach out! In the meantime, hang in there!

countdooku

Breezystar - In my case, before I had the genetic testing done, the breast surgeon was recommending either lumpectomy + 4 wk of radation or a mastectomy. However, once the genetic testing results came back as positive for the ATM mutation, the breast surgeon recommended to do a double mastectomy. She said that since I already had cancer on the right breast, now that they knew about my having this mutation, that made it much more likely to have breast cancer show up down the road on the non-cancerous breast. My insurance covered the mastectomy on the non-cancerous breast due to the ATM mutation. If it's something you're interested in, I think it's worthwhile to ask your doctor about it.