ATM Positive Mutation April 2019

Butterfly1234

Some of you may recognize my screen name from other postings and threads these past two years. I’ve tried to encourage others as we navigate through our BC journey together. Now I need a little of your encouragement and support.

After much procrastination and urging from my daughter I found out today that I am positive for the ATM mutation. It took me two years to finally get the courage to do the genetic testing. Frankly, I was expecting BRCA 2+. My family history is my sister who passed away 26 years ago at 48 from BC. She was never tested. My Dx was at 65.

I meet with a Genetic Oncologist next week to review risk factors and I’m guessing treatment options. All of my medical team was informed today.

I would really appreciate If anyone has any helpful information. I’ve registered with Face Our Risk and will connect with their peer navigator. I’ve done some research on this site and others and know that my BC risk is increased as well as pancreatic cancer risk which scares the #%* out of me. I think ovarian is a slight risk as well. The genetic counselor called this a moderate risk gene mutation.

I tear up and start to lose it when I think of the possible implications for my daughter. We all want to protect our children even when they are no longer children.

By posting this I’m hoping as I work through this experience I will be able to help others in a similar situation.

Does anyone know if the location of the mutation on the gene affects risk factors? I had a list of questions prepared that “went out the window” once I heard positive today and ATM.

Contributing to my angst, is my best friend started chemo this week and I’m trying to be a safe place where she can vent.

Blessings to all.

SimoneRC

Hi Butterfly1234,

I am sorry to have to welcome you to the ATM club. I know it adds new layers of stuff to this already crappy journey that we have been kidnapped in to.

The first and most important step is to meet with the genetic oncologist. I had a really good experience and had a lot of good guidance.

As you probably know, your daughter has a 50 - 50 shot of having inherited the gene mutation. If she did, knowledge is power and she too should meet with a genetic oncologist to talk about surveillance and potential risk reducing procedures.

I will be having total hysterectomy and BSO (ovaries and tubes removed) in two weeks.

Hopefully you will find the appointment with the genetic oncologist to be really helpful and informative.

You may want to enroll in the PROMPT study as well.

Let us know how your appointment goes! You sound like an awesome Mom and friend! Make sure to take good care of you!

Butterfly1234

Thank you Simone for your kind words of encouragement. It looks like we're in the Arimidex club too.

I hope to learn more from the genetic oncologist next week. This BC crap really is an ongoing journey and it is what it is. I will post my risk factors and suggestions for treatment next week.

I'm wishing you the very best on your operation in two weeks. Please let me know how you're doing. Sending love and positive energy. Take good care of yourself as well.

french14

Hi Butterfly1234

I don't come on here very often but I came across your post about your ATM gene findings. I too have the mutation and found out in 2014 when I was diagnosed with breast cancer. My entire cancer treatment team had never even heard of this mutation, its pretty rare I heard. Well, good luck to you and we all need to stick together and help educate one another.

SimoneRC

Hi french14!

Just thought I would say hi to another ATM'er!

Yes, ATM not as well studied as some of the others. Please, if you have not enrolled in the PROMPT study, please do so. They send you a medical/family history form to complete and you submit a saliva sample. As I recall, you also sign a release for your pathology reports. This seems to be the largest effort to gather information about ATM. Hopefully that is something you might be open to doing!

UCSF seems to publish a bit about the ATM mutation. Have you been in touch with them (I do realize CA is a big state!) or any other NCI hospital? If not, it may be worth your time. There have been some newer studies published and some of my docs at Hopkins do hear chatter of others in the works. NCI centers are often more familiar with the latest research. You would want to be in touch with Genetic Oncology department.

Hopefully your journey going forward is smooth sailing on calm waters!

Ja9831

hi ladies, I too have the ATM mutation. I was tested in 2014 after my mom died of bc. I had my first mamo in 2017 which lead to US and MRI’s, biopsies all through 2018. I recently had a lumpectomy for an intraductal papilloma 3 weeks ago and LCIS was found . I did sit with a genetics counselor in 2018 and was told that the ATM mutation wasn’t anything to worry about not much info on it. I always felt there has to be more to this.

I wish you ladies all the best and give my support to all!

Butterfly1234

As it was explained to me by both my Genetic Oncologist and BS is that ATM is a moderate risk gene mutation with a risk range from 20 to 40%. My risk is lower

However. and this is really important, range of risk depends on the context in which you have the gene mutation. Risk is dependent upon many variables: your age, your family history, your type of variant, the age of your Dx if you have BC, your pathology report etc. If my daughter tests + her risk is different from mine.

At this time, for my particular set of variables and estimated risk, both my GO and BS are recommending increased surveillance. My MRI is in a couple of weeks. I'll see how that goes. My BS did say I could have a BMX if I wanted to go that route.

Right now, I'm trying to make decisions based on knowledge and not fear, but it's difficult because there are no guarantees. I'm also meeting with my MO to get his input.

Since there's not a lot of research on this particular gene, getting as much information from knowledgeable medical doctors is crucial. If there's one thing I learned about BC is that it is not a one size fits all. There's a lot of misinformation out on the web

I wish you all the very best and I'm sending love, strength, and peace.

french14

Hi SimoneRC

Yes, I am registered with PROMPT, but I am not familiar with the saliva test. I will be sure to call them so I can send it. Anything that can help. Luckily, I had my treatment at my place of employment, UC Davis Medical Center. That helped with my anxiety somewhat. I noticed we both had the same diagnoses, IDC w/Lobular features. I haven't come across many of those. Well, thanks for the warm welcome to the ATM club.

Goodnight All

SimoneRC

Hi!

I am on the other side of surgery! Laparoscopic hysterectomy and bilateral Salpingo Oophorectomy (ovaries and tubes), breast reconstruction revision and implant swap.

All things considered, I am feeling pretty good. Was out of surgery at around noon on Tuesday. Spent one night in the hospital. Took my last narcotic pain medicine Wednesday night. Now, I am just taking Tylenol and Motrin. I have plenty of narcotic pain meds, I just do not need them.

Was chatting with my GYN Onco surgeon Wednesday. Since ATM is pretty rare, it is more difficult to study. She had an ATM patient later on Wednesday who was only doing BSO, (ovaries and tubes). My surgeon said she would have wanted to take uterus as well but the patient really wanted to keep her uterus. I thought it was interesting to hear from a GYN Onco who gets to see us ATM mutants that she would prefer we do the hysterectomy as well (obviously with exceptions). I added uterus as my sister was recently diagnosed with uterine cancer and she is also an ATM mutant.

Hopefully the rest of my recovery will be uneventful!

French14 - yes, not too many IDC w/lobular features. Hoping for us that this does not lead to any more issues for us!

Take good care, everyone!

Butterfly1234

Simone,

So glad you're on the other side of surgery and it went well.

Sending love and healing prayers!

SimoneRC

Thank you Butterfly1234! I hope you are feeling good about your decision making process. And feeling good in general! 🤗.

Anonymous

My sister, age 70, is having a double mastectomy and her ovaries removed in early July. She is triple negative and has the BRCA1 gene mutation. I've been doing searches but sometimes all the information is overwhelming.

I'm wondering why her surgeon, as far as I know, has not recommended a salpingo-oophorectomy. Your thoughts and insights would be greatly appreciated. Thank you.

SimoneRC

Popping in to say hi!

I noticed my BS had been publishing and speaking quite a bit this year about ATM. Reached out to him. Most of his ATM'ers are doing fine. Pretty straight forward stuff. FWIW, I am his only patient with Deletion of 2 Exons. He is guessing that is what is making my family's experience worse. The Deletion spans a longer section of DNA which he believes likely makes it worse.

Hopefully all of you lovely ATM ladies are doing well! We are a pretty small group! Feel free to check in here and update!

Wheatscapes

Hello wonderful women - I am two weeks post BMX. Stage 1, Grade 2 IDC, HER2+, mutated ATM gene. Margins and nodes clear. Start chemotherapy around July 9; 1 round of Taxol per week for 12 weeks, then once a month Herceptin or 9 more months. I'm assuming Tamoxifen for 5 years after that. 🤷🏻Don't know a lot about the mutant ATM gene because I'm trying to stay off the internets to save my sanity. Too scary! My oncologist says I have a great prognosis for survival, but then ordered a CT Scan of my pancreas and bone scan. He says it's for a “baseline." I suppose I will have to be monitored/screened for the rest of my life? No one in my family has had cancer with the exception of a maternal uncle who died from pancreatic cancer.

SimoneRC

Hi Wheatscapes!

So sorry you need to find yourself here, but you will find this site and the people here are awesome, supportive and full useful/helpful information.

It sounds like you have a set game plan already which for me was super helpful. Now, it is one bite of the elephant at a time!

The genetic counselor and genetic Oncologist that I met with both told me that once you have cancer, the ATM mutation does not give you a worse prognosis. Your prognosis is still linked to your breast cancer staging.

The upside of the mutation, in my mind, is the enhanced screening. Hopefully anything that may pop up later can be prevented or caught early. It sounds like you do not have a strong family history at all so hopefully you are one cancer and then all done!!!!

I am post menopausal and have a family history of uterine cancer so I elected to do risk reducing total hysterectomy which is removal of uterus, cervix, ovaries and tubes. You sound like you may be pre menopausal with no family history. However, please ask your MO about very regular vaginal ultrasound to keep an eye on things while on Tamoxifen.

I have annual colonoscopies due to a family history of colorectal cancer and a personal history of polyps.

It seems like most ATM mutants do not have a lot of other cancers. Hopefully you are one of them!

I hope you are healing well from the mastectomies! Please stay in touch and try to take this one step at a time!

You’ve got this!

Butterfly1234

Simone,

What kind of testing are you getting for your pancreas? My docs said I didn’t need any screening which now I will revisit with them. So glad you are doing well.

Hugs to all!

SimoneRC

Hi Butterfly1234,

I am not getting screening for pancreatic cancer as nobody in my history has had pancreatic cancer. May need to revisit that with oncologist next week.

Butterfly1234, I was told that screening not needed if no family history of pancreatic cancer

On a bummer of a note, just had my colonoscopy (last one was one year ago). 35 polyps. Guessing there is a meeting with the colon cancer genetic oncologist next. This sucks!

Hoping for smooth sailing for everyone!

Butterfly1234

Simone,

So sorry to hear about the polyps. I'm sending positive energy and lots of love. Thank you for the clarification re: pancreas. Both my oncologist and genetic oncologist said it wasn't necessary to do any testing. There's no history of pancreatic cancer in my family that I'm aware of. My daughter also tested positive for ATM and her Gyn mentioned something about pancreatic screening so I'll have to follow up with her on that.

Love and hugs to all! We're a small group so as we learn new information I'm glad we have this forum for sharing.

morrigan_2575

I just got my genetic testing back and I'm positive for the ATM Mutation. All my MO said was that I will need a BMX and, I'm at a slightly higher risk for Pancreatic cancer. He didn't mention anything about cleaning out all the plumbing (which I'm actually OK with).

My bigger concern is Pancreatic Cancer. My Maternal Aunt was diagnosed at 84.

He did say he would set me up with a Generic Specialist but, I think he's waiting until I get through Chemo (neoadjuvant) and surgery.