Anybody with the ATM gene mutation?

Tracy_Walter

So I got my test results back and I have the ATM gene mutation with 17-52% chance. Saw the surgeon yesterday and he gave me two options.

A) Testing- Mammogram and 6 months later MRI- done yearly

Double Mastectomy plus Reconstruction

That's a hard decision to make. I just need some guidance/advice. My mom died at age 34 with breast cancer that spread thru her bones. Her mom had it as well. What did you decide and why?

Moderators

Tracy_Walter, what a difficult decision you need to make. How old are you now? Have you considered getting a second opinion?

What would make you feel the most comfortable?

Tracy_Walter

I am 36 about to be 37. TBH I don't know really... Like a part of me feels hey let's just do the testing and see if there is any sign of it and then go from there. But there is a huge side that says let's just get it over and done with.

Moderators

completely understandable! It is a personal decision, and needs to make sense for you. This is a big decision. Are others in your family interested in getting the testing?

Tracy_Walter

NO... I have talked to my sister about it and she is blowing it off. She thinks because she eats natural stuff and exercises she will never get it

shellbellmt

Good morning T - I was wondering - you mentioned that you had the ATM mutation,is that different than the ATM variant? and if not, how did your surgeon determine your options? I ask because, I just got my genetic testing back and I was confirmed with the ATM, but it claims its the VUS and not getting much feed back from the genetic doctor at all!!! I had a abnormal mammo just a few months ago, that prompted doing the genetic testing. So I'm highly confused on what my next steps are? My sister did the testing too, and her's came out with the Bard1. Anything you like to share would be helpful to me.

Thanks

Moderators

Dear shellbellmt, Welcome to the community. We are glad that you reached out. While you are waiting for some responses here is some information on our site about the ATM mutation. The Mods

Tracy_Walter

Idk if it is the same.. It might be. I just went to the surgeon he said that is basically anyone's options with the gene mutation. You either do testing every 6 months or go thru a double mastectomy with reconstruction.

I did the MRI and they found something so now I got to go thru further testing. Waiting for the mammogram to be scheduled and may have to have a biopsy.

shellbellmt

Tracy - Thanks for that information. Can you share or private message me what they found on the MRI?...I ask, because I had a abnornal mammo and yet, I sit and wait for the yoyo's to make up their mind as to what to do next. It's like watching alot of chicken run around without their heads.....

Metta

Hi, I have a VUS (variant of unknown significance) on the ATM gene. It's not the same as the mutation, but it could be. Basically the lab can see that some part of my ATM gene is screwed up, but they can't say if that's what caused my cancer. That's what a variant is, in my understanding. So shellbellmt, I don't think Tracy and you have the same thing.

Tracy, wow, you have a hard decision ahead. Can your docs put you on tamoxifen as a preventative measure in addition to the MRIs? The "benefit" of having a double mastectomy now, without any cancer yet, is that you wouldn't have to have radiation (which royally screws up implants) and you wouldn't have to have a sentinel node biopsy, meaning you wouldn't have lymphedema or a numb armpit for the rest of your life. Not to mention you could sidestep chemo, a truly hideous experience, at least for me. It must be such a terrible thing to know. I'm really sorry, and sorry about your poor mom.

By the way, your sister is in for a surprise because plenty of people here ate healthy, all organic, exercised a ton, etc. If you have the genes and bad luck, you get it anyway, no matter how healthy you are.

Tracy_Walter

Thank you for helping clear that question up.. I'm totally new to all this. and it's so overwhelming, bad thing is I just caught my husband cheating as I am going thru all this... My whole world has just been flipped upside down. Feel all alone now

shellbellmt

Well, from the information that we all have, if you have the variant or mutation, we don't know what significant that holds period?, Correct?

clarrn

The mutation is a gene with known moderate breast cancer risk. They don't have enough information yet on the variants to know if it is a cause or just a harmless variation of the gene. I have been found to have a ATM variant of c.4424A> G (p.Tyr1475Cys).

Hopefully, with more people getting in-depth testing we will know more in a few years.

I don't envy the decision you have to make, and my daughter (4 years old) will be faced with the decision at sine point too.

Good luck!

JohnSmith

My wife had the following genes tested: ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, NBN, PALB2, PMS2, PTEN, RAD51C, STK11, TP53.
Everything was negative except two "variants of unknown significance" (VUS) in the ATM gene, which are assumed benign, at the moment.
Those variants are:
1. ATM gene variant: c.1744T>C (p.Phe582Leu) [also known as: rs2235006]
2. ATM gene variant: c.146C>G (p.Ser49Cys) [also known as: S49C, p.S49C, Ser49Cys, rs1800054].

4evermomof4

I am 41 diagnosed with IDC (1.8mm mass) and I just had the gene testing and found a the ATM variance as well. I opted for a lumpectomy and setinel node biopsy. Today the results were micro metastatic cancer in 1 of 5 nodes removed. I have no clue if ATM VUS plays a role in this diagnosis. I wish they knew more. All of this is very confusing to me and just when one thing is figured out another thing happens

Moderators

4evermomof4-

We wanted to welcome you to our community here at BCO. We're sorry for the circumstances that bring you here, but we hope you find support and answers. You're not alone!

The Mods

Tracy_Walter

4evermomof4-

Wow.. so sorry to hear that. I spoke with my surgeon after weeks of thinking, researching and stressing out about all of it. I have come to the decision just to get the double mastectomy with reconstruction done. I don't want to worry or even have my love ones worry about it. I went thru losing my mom to breast cancer and went thru my dad's radiation on his throat bc of cancer. I don't want to put my family thru that at all. And it will give me piece of mind finally after worrying about it for 22 years now (that's when I lost my mom).

I wish you all nothing but the best. Thank you all for the advice and shoulders to lean on! you all are the best

JohnSmith

For others interested in ATM mutations, here's a similar thread to add to "My Favorite Topics": ATM variant and Radiation

Ithinkican4me

I am also new to this forum. I tested positive for the Brca1 gene. My mom had breast cancer when I was a teenager, but thankfully has been in remission for years. I am around your same age and also trying to make the same decisions as you. I have to talk to a breast surgeon soon and have some hard decisions ahead of next. I hope you are managing ok.

Moderators

Hi Ithinkican4me-

Welcome to BCO! We know the difficult decisions you face, and we just want to let you know that you're not alone. We hope you find the support you need as you beging down that road!

The Mods

Tracy_Walter

Well my MRI came up with some spot they were concerned about and I went for a Mammogram on Monday. I do have 2 calcifications in the left one. But they won't do a biopsy until I have 5. Im alittle mad/ upset. B/c what if it is cancerous and they are making me wait another 6months to do all these test all over again to see if I have 5 then. I feel they should biopsy now to determine if it is or not. Why wait?!?!? Ugh doctors

meredamon

My testing came back with ATM gene with c.4362A>C variant, note of; Uncertain Clinical Significance. I am 58, my mother past of bc, age 62.

Lovebird65

i had DCIS right breast 5 years ago. no family history of breast CA at young age. Had 2 lumpectomies (2nd one for wider margins) followed by radiation for 26 cycles.

Forward to May 2, 2016, when I find a lump in my Left breast with questionable lymph nodes. I had the works, mammo, ultrasound, MRI, PET scan to look for mets and genetic testing. Tada! I have ATM mutation and I am triple negative. I have had 5 cycles of doxyrubicin and Taxol who which I was severely allergic and stopped. Then I had ONE cycle of Adriamycin and Cytoxan. I was nearly comatose for 3 days. never again,.

I had followup MRI and have consult tomorrow, 8/16. After all the research I have done, a double mastectomy seems inevitable if I wan to prolong my life. Too old for reconstruction at nearly 66. But the long recovery from surgery seems like it is taking 6-12 months off my life when I could be living not recovering.

I believe the ATM mutation will come out again as cancer somewhere else; based on the research I have done.

If I was your age, I would get the mastectomy and live like there is no tomorrow. that's what I'm going to do.

Lisey

If you have children to raise.. get the freaking mastectomies already. I'm 41 and told them to take both 34DDs off my body because I got some kiddos to raise and they were ticking time bombs. I don't even understand why anyone would wait until cancer comes.. just get those babies off.

And there's a huge group of us who don't choose reconstruction. I was going to, then had a come to Jesus moment about 2 weeks in and told them to get these nightmares out of my body. Honestly, younger women can rock flat and clothing is much better fitted to flat now than in the pamela anderson days. People simply think I'm naturally flat and I can wear a bandana as a shirt and not worry about anything.

There is huge freedom in being flat, in addition to not worrying about pain, more surgeries, complications, infections and numb mounds you carry around.

Jennyannk73

I have the same variation in the ATM gene as you, and also a PMS2 variation. Please let me know if you hear anything new and I will share the same with you.

Tracy_Walter

I actually have made an appt with Texas Breast Specialist for the 24th.. I will get my 2nd set of testing done and then discuss surgery options bc I don't want to go thru test every 6 months.

connerdmc

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?

Tracy_Walter

ATM: Women with a pathogenic variant in ATM have approximately a two‐fold increase risk for breast cancer (RR = 2.2‐2.4) (Thompson 2005, Renwick 2006, Tavtigian 2009). Thompson et al. (2005) studied 1160 ATM pathogenic variant carriers and concluded that female heterozygous ATM pathogenic variant carriers who are less than 50 years of age had a significantly increased risk for breast cancer (RR = 4.9) compared to women over 50 years of age where a statistically significant risk could not be identified. This same study suggests an increased risk for colon cancer, but the confidence intervals are wide (Thompson 2005). Roberts et al. (2012) reported an association with pancreatic cancer showing that 2.4% of familial pancreatic cancer patients were found to carry a pathogenic variant in ATM, and 4.6% of families with 3 or more cases of pancreatic cancer carried a pathogenic variant in ATM. Of note, certain missense pathogenic variants in the ATM gene may confer a higher breast cancer risk (Tavtigian 2009).

HulkSmash

Hi, All -

I was diagnosed in February 2016 (Her2 positive) and did neoadjuvant chemo. During chemo, I had genetic testing and found out I have a pathogenic ATM mutation. Initially, my team expected I would have clear nodes after chemo and recommended a full mastectomy in order to avoid radiation. I opted to do only the affected breast at this time. Unfortunately, they found a micromet in one of the seven nodes they removed. When I went back to the radiation oncologist, she said radiation treatment would provide some benefit, but she still was not sure whether that benefit outweighed the downside stemming from the mutation. I am in the process of looking for an oncologist who specializes in the ATM mutation for a second opinion on treatment options, both in respect of radiation treatment and also prophylactic surgery. I would appreciate referrals if you know any specialists on this mutation. Thank you!

Also, here is a run-down on what my team has told me about the pathogenic ATM mutation, in case anyone finds this helpful:

1) Avoid all unnecessary medical radiation (X-rays, mammograms, pet/ct scans, etc.) as ionizing radiation is a major concern.

2) Radiation Therapy can potentially cause significant and painful scarring as well as promote a second cancer.

3) My genetic counselor could not quantify the risk of a second cancer in the unaffected breast because the data just is not out there.

4) I am at high risk of pancreatic cancer and should be screened annually either through endoscopic ultrasound or MRI. My risk stems from both the ATM mutation, which has been linked to pancreatic cancer, and also because my brother was diagnosed with pancreatic cancer at age 46, the same age I was when I was diagnosed with breast cancer.

I agree with the moderators that this mutation is not a death sentence. Sending lots of good thoughts out to all of you.

Sophiee

I tested positive for AM mutation, my brother also tested positive. I had breast cancer twice, 2 different cancers. I had a double mastectomy in 2015. My other brother died from pancreatic cancer when he was 37. My son is going for genetic testing Wednesday and I am so nervous about it its hard to function normally. I am so scared for him. My other son and daughter haven't had testing yet. I am sick with worry. Sorry but I need to vent, I have nobody to talk to because nobody understands.

momallthetime

Sophiee so sorry you are going through such a difficult time, let us know of the outcome. But even if it's postive, what would they suggest for your children?