Testing positive for the atm mutation

Snowbun

Hi all! I'm new to the community and I know this is a breast cancer site but I was wondering if anyone could give me advice. I had been having some health issues for about a year that included diffuse lymph node swelling. I had a mammo and ultrasound (I have lumpy breast tissue), but my breasts were too small and too dense so they were unable to see very much. They were very worried about the lymph nodes in my armpits and the sides of my breasts though. Honestly every lymph node I could feel on my body was swollen though apparently the axillary ones had a bad shape and density. I started to see an oncologist, they initially thought I had breast cancer and subsequently lymphoma. I had one of the lymph nodes removed, the surgeon said it looked necrotic. It was negative for cancer but positive for an infection they loosely tied to a root canal. I was on high dose antibiotics for 6 weeks and basically my symptoms went away over the next 2 months. I had a PET scan at the very end of this from nose to toes which I have to repeat in January. I forgot to mention, they found a mass next to my heart. Risky location to biopsy but it hasn't changed sizes in a year. Its dye uptake is borderline but just under the number they consider as a possible malignancy so at this time they recommend "keeping an eye on it" It could be a tumor, a calcified lymph node, or an old infectious process. Nobody knows but one of my doctors, an intensivist/pulmonologist is very concerned and says he's never seen anything like it. I saw a CT surgeon who thought it was lymphoma. My primary physician thinks its basically an old calcified lymph node, no worries. Most all autoimmune diseases were ruled out, the big ones anyway. During this process (that took a year and a half) I ha d a genetics panel done again. The first time, in 2006, everything was negative but the geneticist told me 13 years has seen a lot of advancements in the field of genetics and she recommended I have it redone. I tested positive for an atm mutation and met with a geneticist and met with a breast center specialist to discuss my options. Basically they are going to do an mri or mammo every 6 months until I decide what I want to do. My options are a bilateral mastectomy and/or Temoxifen for 5 years. They are putting me in a middle risk category because my family history is sketchy. My mother passed away at 18 years old when I was a baby. Her mother passed away in her 40's when my mom was 8, They were both accidental but leave me with very little family history. Unfortunately I don't know too much about her family but her dad did pass away from colon cancer in his 60's. On my dads side, he currently has chronic lymphocytic leukemia, his sister and aunt both died around age 50 from ovarian cancer. Also, another aunt of my dads had colon cancer and his cousin passed away from cancer at a young age, I think some type of sarcoma. Other than that, I have not done too much research, I'm thinking about going on ancestry.com to further my knowledge. My dad and I are estranged and he refuses to get tested so I don't know which side of the family this comes from. Here is my dilemma: I am worried about breast cancer but I also know the atm is linked with ovarian and I had two family members die horrible deaths from it. If I pass away at the ages they did, I don't even get to see my kids graduate high school. That may seem dramatic but both my mom and grandma died at very young ages and my mom and I were both raised by really terrible step mothers. I am so scared of leaving my kids, it's almost crippling. I didn't have kids until age 35 (and wasn't going to because I was so scared I would die and leave them orphans) but I thank God every single day that I changed my mind. I now have an amazing 2 year old boy and 4 year old girl and finally have the family that I never had. I need to make the right decision but I was told it's highly unlikely I could find a surgeon to remove my ovaries and fallopian tubes even though I'm done having children. The atm is understudied in the ovarian department from what I understand. I'm scared to have my breasts removed (do I need to??), Temoxifen seems to be so dangerous (again, do I need it??) and the one thing I'm really scared of-ovarian cancer-is so hard to screen for and detect early but I can't find anyone to care about that aspect. The one positive is that I just had a pet scan that didn't show anything in my abdomen or breasts so I feel I have a little time to research and decide. Can anyone help me or has anyone been through anything like this? Where do I go from here?

MelissaDallas

You need an appointment with a genetics counselor for those questions

SimoneRC

Hi Snowbun!

Welcome, and sorry you need to be here! I am a fellow ATM mutant with a small family and a decent amount of cancer in it despite its small size.

I think the first, and most important thing you need to do, is to make an appointment at the best National Cancer Institute Hospital that you can get to with their breast/ovarian genetic oncologist and genetic counselor. I cannot stress this enough. ATM is not as well known or studied as BRCA and as a result many other doctors, specialists, hospitals are not familiar enough with it or the emerging research and studies.

For some mutations and families it is not a huge deal. For others, it is. At a minimum, with your current issues and family history I would guess that in addition to enhanced surveillance in several areas, including colon, you will be counseled on risk reducing procedures, and the pros and cons of them.

I have no family history of ovarian cancer. Both my sister and I, who have each had cancer diagnosis (age 49 and 51), were counseled about ovarian cancer risk and both of our oncologists, who are completely separate and unrelated strangers, advised removal of ovaries and tubes. We each wound up doing that surgery in addition to hysterectomy. Our surgeons, each NCI GYN Oncologists, are seeing links with ATM and not only ovarian but uterine cancer as well. My sister wound up having uterine cancer.

I am not trying to scare you. ATM can be more aggressive in some families. Many non academic medicine professionals discount it. With your family history, your young age and current issues, PLEASE make the calls to get in to be seen at a National Cancer Institute Hospital. Just Google for a list of NCI Hospital by state.

Good luck. Ask questions. Keep us posted. Reach out often. Get the best information to make the best decisions to lead a long and healthy life!

P.S. You can use the Search function on this site to search for ATM!

All the best!

Snowbun

Hi SimoneRC,

I want you to know how much I appreciate your help! I googled nci and we have one in Madison (I’m in WI) so I’m thrilled! You are 100% correct about the atm being understudied. When I had my appointment with the geneticist, she basically told me she had to do her own research before meeting with me because she knew so little about it. I think that’s where so much of the anxiety comes from. I was basically given all of these choices with absolutely no direction or advice. Then, the things that I’m worried about, they don’t seem to find relevant. They are such heavy decisions to make but I think the worst part is that I have no support system. I’ve actually just been pushing it out of my mind for the past 2 months and took a mental break from it all because it was becoming too much and I didn’t have anyone to talk to about it. The irony is that I’m a critical care nurse and I work with so many different doctors. None of them know much of anything about the atm gene. Most people I work with have sympathy but no advice You don’t even know how much better I feel just reading your message. Finally someone who understands! And finally something I can take into my own hands! I will definitely keep you posted and thank you again!

Snowbun

I’m also sorry to see you’ve been through so much! I hope you’re doing ok now! I see you had a prophylactic removal of your ovaries. I may ask you more questions about that later. If that was given as an option to me, I would probably do it despite the health ramifications that go with it. I was close to my dads sister and what she went through broke my heart. And it’s so hard to find! So interesting to hear about a uterine component, I recently met someone who has uterine cancer and it’s terrible from what I understand. Ugh.

But, at the end of the day, one of my doctors told me that finding this mutation was a gift. She told me most people don’t find their mutation until after they’ve been diagnosed with cancer. She said she feels like this will put my doctor on high alert and if I do develop a cancer, it will be caught in early stages and more treatable. Unfortunately she’s an infectious disease doctor so I can’t see her for this but now I realize I just need to find the right doctor for me. I think the NCI will help m

Snowbun

I’ve met with the geneticist in my area and she had to do some research before my appointment because she didn’t know much about the atm. I’ve also met with a breast specialist and have a referral to an surgeon that deals with women’s reproductive health. Someone just pointed me in the direction of the nci though which I’m very excited about since I didn’t even know it was a thing! Best wishes

SimoneRC

Great to hear you have an NCI Hospital close by, Snowbun! Yes, finding the pathogenic gene mutation can be a gift! With proper advice, screenings and procedures we can avoid some cancers we may have otherwise had and perhaps find other ones earlier. We also may be better responders to some cancer treatments as well.

My husband is an MD and we have many MD friends. None of them really knew anything about ATM and really thought it was pretty much a nothing burger. Even my regular doctors. We have all learned a lot!

So glad you are planning to consult at the NCI in Wisconsin. In my experience at Hopkins, they will go through the pros and cons and they will make recommendations. Obviously it is “shared decision making” but they have always given me their recommendations as well!

Good luck and keep us posted!