BRCA 1 & 2, ATM, CDH1, CHEK2, MRE11A, MSH6, NBN, p53, PALB2, PMS2, PTEN, RAD50, RECQL, and RINT1 genes
Posted on: Feb 19, 2016 10:31AM
I am really looking for advice from anyone with the ATM gene variant or mutation. I got my results back and I called Myriad to talk to a genetic counselor. He told me that only one other person in the database has my variant. c.121A>G (p.Lys41Glu). I had 4cm of DCIS removed, low grade, ER and PR + (no necrosis, etc.). My plan was for radiation and tamoxefen. Then I saw on one of my DCIS Facebook boards someone mentioned concern over the ATM gene and radiation. I have since researched like crazy and my head is literally spinning. I have two children under the age of 6 and my only goal is to live. I also have several autoimmune diseases including hashimotos, sjogrens and celiac. My local genetic counselor would like me to go to a larger research hospital to meet with a geneticist with more access to the "latest research". Can anyone here shed light on the radiation and ATM concerns. My radiation oncologist was not concerned. My medical oncologist is doing more research.Log in to post a reply
Posts 31 - 39 (39 total)
Apr 13, 2018 08:02PM chocomousse wrote:
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.
Apr 14, 2018 09:59PM Fab65 wrote:
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.
Best of luck
Apr 17, 2018 06:28PM chocomousse wrote:
Hi Fab65. Do you know which ATM variants you have? Mine are -
Apr 20, 2018 09:52PM - edited Apr 20, 2018 10:00PM by Fab65
I just have one. It is ATM c.6577G>A(p.Val2193lle)
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
May 10, 2018 04:11PM Janeway69 wrote:
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.
Aug 12, 2018 11:26PM JohnSmith wrote:
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].
Aug 17, 2018 01:45PM chocomousse wrote:
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."