ATM Gene Mutation and Care

Posted by marciski @marciski, Aug 30, 2018

I am the ATM gene mutation. I had early stage breast cancer in the left breast 4 years ago and I am considering having preventive removal of the right side after several scares. Does anyone have a point of view on this?

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@corinneberg

I do not have ATM but have BRCA2 and had a bilateral prophylactic mastectomy at age 25. I had family members die of breast cancer and didn't want that hanging over my head. You do what is best for you.

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You did absolutely the right thing young lady. And this is what I am going to do in the next 3 months.

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@anelia

I do have the mutation in ATM too.. All my test – MRI, ultrasound, mammogram are negative. However, I have a pain in my left breast for 3 years, and now for 4 months in my other breast too. I decided to go for double mastectomy as the pain stresses me out so much, and I cannot live every day in fear. My health card covered my surgery and the reconstructive surgery and I m very happy about it. Me and my husband have this ATM gene, therefore my son carry the AT syndrome who we lost 21 years ago when he was almost 18 old. I remember when I was reading some info about my son's AT Syndrome was saying that the mothers have a high risk of getting breast cancer. I was wondering how I can be connected to my son's AT Syndrome. I shared that with my breast specialist doctor and she sent me to a genetic doctor. And at 60 years old I got to know that I have the mutation in ATM gene.
Please, ladies if you have already breast cancer in early stage and the doctor recommended you to have a double mastectomy just go for it….That's the best way to get rid of it.
By the summer I am going to have my surgery and I am very happy about it.
My best wishes to all of you, you are strong ladies and I know that you are going to win in this game. Never give up!!!

Canada

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Hi @anelia, welcome to the breast cancer group on Mayo Clinic Connect. First off, I'm very sorry for the loss of your son at only 18 years of age, just in the prime of his life. I was not aware of the relationship between ataxia-telangiectasia syndrome and breast cancer due to the ATM gene. Thank goodness that you saw that information that mother's of children with AT have a high risk of breast cancer.

I completely understand your wish to not live in constant fear of getting breast cancer and your decision to get a double mastectomy. You may also be interested in these discussions:

– Bilateral Mastectomy or not https://connect.mayoclinic.org/discussion/bilateral-mastectomy-or-not/
– Bilateral Mastectomy Surgery Today https://connect.mayoclinic.org/discussion/bilateral-mastectomy-surgery-today/

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I am undergoing chemo for breast cancer following a lumpectomy (HER positive, ER/PR positive) and just found out that I have the ATM hereditary gene. I am considering a prophylactic double mastectomy but don't seem to be able to find clear guidance on this.
Some doctors seem to be advising pro a mastectomy while others suggest a twice a year breast MRI. I need to take the decision over Christmas as in January I normally have radiation therapy planned, which will not take place in the case of a mastectomy.
Would anyone have experience in clinical management of ATM gene BC cases? For those with the gene, what decision did you take? Did you opt for a mastectomy? And finally, as the gene affects rates for other cancers too, any experience on diagnostic pathways?
Thank you so so much, Aspa

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@aspapla

I am undergoing chemo for breast cancer following a lumpectomy (HER positive, ER/PR positive) and just found out that I have the ATM hereditary gene. I am considering a prophylactic double mastectomy but don't seem to be able to find clear guidance on this.
Some doctors seem to be advising pro a mastectomy while others suggest a twice a year breast MRI. I need to take the decision over Christmas as in January I normally have radiation therapy planned, which will not take place in the case of a mastectomy.
Would anyone have experience in clinical management of ATM gene BC cases? For those with the gene, what decision did you take? Did you opt for a mastectomy? And finally, as the gene affects rates for other cancers too, any experience on diagnostic pathways?
Thank you so so much, Aspa

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Hi Aspa- I had triple negative BC and the ATM gene. Like you, I had mixed medical opinions, but did decide to have a double mastectomy. There is not much information on the gene. Science is much more focused on BRACA. My oncologist has me getting a PET CT every 6 months head to knee. One medical expert told me I had a lifetime % risk of a cancer from the gene and I have now absorbed that risk with my BC. I do not believe that I am immune to other cancers, but possibly less likely. The good thing about knowing is that my sister and daughter could be tested. My daughter also has it. I have no history in my family and nobody expected I would have a BC gene, but I did. Everyone should get genetic testing, if possible. Knowing I had the gene helped to determine my chemo regimen of taxol and carboplatin. Read up on radiation and the ATM gene. You will find a fair amount on the subject and of course, differing opinions.

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@aspapla

I am undergoing chemo for breast cancer following a lumpectomy (HER positive, ER/PR positive) and just found out that I have the ATM hereditary gene. I am considering a prophylactic double mastectomy but don't seem to be able to find clear guidance on this.
Some doctors seem to be advising pro a mastectomy while others suggest a twice a year breast MRI. I need to take the decision over Christmas as in January I normally have radiation therapy planned, which will not take place in the case of a mastectomy.
Would anyone have experience in clinical management of ATM gene BC cases? For those with the gene, what decision did you take? Did you opt for a mastectomy? And finally, as the gene affects rates for other cancers too, any experience on diagnostic pathways?
Thank you so so much, Aspa

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@aspapla, I'd like to add my welcome along with @drummergirl. I moved your question about clinical management of ATM gene for breast cancer and masctectomy or not to this existing discussion:
– ATM Gene Mutation and Care https://connect.mayoclinic.org/discussion/atm-gene-mutation-and-care/

I did this so you can read the previous posts and connect easily with others @bmerxbauer @marciski @beku @zinath123 @lnduh66 @anelia and more who faced similar decision making.

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@colleenyoung

@aspapla, I'd like to add my welcome along with @drummergirl. I moved your question about clinical management of ATM gene for breast cancer and masctectomy or not to this existing discussion:
– ATM Gene Mutation and Care https://connect.mayoclinic.org/discussion/atm-gene-mutation-and-care/

I did this so you can read the previous posts and connect easily with others @bmerxbauer @marciski @beku @zinath123 @lnduh66 @anelia and more who faced similar decision making.

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Thank you Colleen!

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A quick observation. Seems like I am hearing a number of left breast cancers. Mine was also left.

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I have the ATA mutation and I don't have a cancer. However, a year ago I had double mastectomy with reconstructive surgery…just for peace of mind.
It's totally your decision.
I hope this was helpful.
D
Thanks

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Yes, my pain or discomfort was most on the left side too.

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@aspapla

I am undergoing chemo for breast cancer following a lumpectomy (HER positive, ER/PR positive) and just found out that I have the ATM hereditary gene. I am considering a prophylactic double mastectomy but don't seem to be able to find clear guidance on this.
Some doctors seem to be advising pro a mastectomy while others suggest a twice a year breast MRI. I need to take the decision over Christmas as in January I normally have radiation therapy planned, which will not take place in the case of a mastectomy.
Would anyone have experience in clinical management of ATM gene BC cases? For those with the gene, what decision did you take? Did you opt for a mastectomy? And finally, as the gene affects rates for other cancers too, any experience on diagnostic pathways?
Thank you so so much, Aspa

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Hi there,
I have the mutation of ATM and I don't have a cancer. However, I had the double mastectomy for my protection.
Don't forget that people with ATM gene have also high risk of pancreatic cancer.
4 months ago I just had pancreatectomy as I had a benign cyst that was growing fast for the last two years. However, I am still having a normal life as my pancreas is still able to produce enough insulin and enzymes because I am not diabetic and don't have in the family diabetic people either.
Tks.

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