ATM variant and Radiation

HulkSmash

Thank you, Stacy! I really appreciate any information you can share. Best of luck to you!

Best of luck to you, too TerezP!

Julie

Shari-Ann

I have NBN gene mutation and have had surgery for DCIS tumor. I have read that radiation causes more DNA breakage and have opted out of radiation. I'm taking Arimidex and am considering having ovaries removed. Radiation really scares me.

chocomousse

What's the difference between an ATM gene mutation and an ATM gene variant? Although I was diagnosed with BC in 2015, neither my BS nor oncologist recommended genetic testing. It was my gynecologist who recommended it in February. I was told over the phone that I was negative for the 25 genes tested, however, I was positive for 3 ATM gene variants and 1 CDKN2A gene variant.

Fab65

Hi choco,

I too tested positive for the ATM variant and enrolled in the PROMPT study to stay up to date as best I could with any new information that is found about the variant. It is confusing, and I feel that there is some correlation between the variant and BC, but the research just isn’t clear yet. I received this link from the prompt study team. Maybe it will she’d some light on it.

https://event.webcasts.com/viewer/event.jsp?ei=1166777&tp_key=9d25146578

Best of luck

chocomousse

Hi Fab65. Do you know which ATM variants you have? Mine are -

c.320G>A (p.Cys107Tyr)

c.334G>A (p.Ala112Thr)

c.7313C>T (p.Thr2438lle)

Fab65

Hi Chocco,

I just have one. It is ATM c.6577G>A(p.Val2193lle)

Zygosity:heterozygous

Hopefully in the near future more will be known about all of these. I just try to stay on top of anything that's due as far as mammo, skin cancer checks, etc. That's been really all any ofus can do 😌

I am currently being followed for asymmetry that was new this year on my mammogram and had a right core biopsy which ended up just being a fat necrosis. However, there have been quite a few medical issues for me this past year and hoping as those are followed nothing evolves. I will definitely continue to update findings to others as that’s the only way we can learn about what’s potentially linked to the ATM

Janeway69

I just had blood drawn to test for an ATM mutation that my mother has. I have heard people refer to mutations and variants as though they were different things, including my GYN who, kind of flipped out when she heard about my mom and prompted me to test myself.
But the letter mom received about her tumor testing ( pancreatic, not breast), referred to her mutation as both "mutation" AND "variant," and the letter was from the genetic counselor at Memorial Sloan Kettering.
So, I don't know what to think about the language either.

My GYN has some experience with this because ATM mutations run in her family. Two of her close female relatives had an ATM mutation and had breast cancer. Both are still with us. The doctor gets yearly mammo and sono and yearly MRIs.
She told me radiation is a concern with ATM mutations. I had asked her about mammogram radiation and her response was that it was treatment radiation that was the thing. But no more details than that.

I wish I could help more.

JohnSmith

My wife had 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].

chocomousse

So the CDKN2A gene is NOT associated with an increased risk of BC.

"Neither the MRN complex genes nor CDKN2A was associated with increased breast or ovarian cancer risk. The findings also do not support previously reported breast cancer associations with the ovarian cancer susceptibility genes BRIP1, RAD51C, and RAD51D, or mismatch repair genes MSH2 and PMS2."

https://jamanetwork.com/journals/jamaoncology/fullarticle/2696722?utm_source=fbpage&utm_medium=social_jamaonc&utm_term=1726506208&utm_content=followers-article_engagement-text&utm_campaign=article_alert&linkId=55634791

yellowb

I got the results of an ATM variant after Taxol, AC, a lumpectomy, and node dissection. It is the variant for which they advise avoiding rads -- although my oncologists are continuing to debate the literature while I go back in for a double mastectomy; they have been very upfront that the studies are small and the results unclear.

SimoneRC

Hi Yellowb,

Both my sibling and I have ATM mutation. Sibling had cancer first, not knowing about ATM status. Radiation toxicity. As a result, no radiation for me unless it is the only treatment that would be effective. Went with bilateral mastectomy and AI. Remember, not everyone has issues with radiation but since we both had same mutation and young cancer, they did not want to do radiation at all on me. Good luck and keep us posted!