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Expanded Panel Testing Uncovered My ATM Mutation

May 10, 2020

Expanded Panel Testing Uncovered My ATM Mutation

by Marci Horton

In 2014, a routine mammogram found a spot in my breast, and I was diagnosed with breast cancer. I had screening at Virginia Mason in Seattle, where they had just started using 3D mammogram technology. I was told that without this type of screening my breast cancer might have been overlooked. At the time, my husband was in Australia and not able to return to the States, as we were still waiting on his green card.

I cannot thank my friends enough. They went with me to every meeting and consultation with my doctors. Neither my mother or my sister was able to attend, as flights were difficult with such short notice, but my friend Henry flew in from Colorado to join me in the first set of meetings. Because I had no family history and felt that something was not right, I asked for genetic testing. At the time, multi-panel genetic testing was not readily available; only the BRCA tests were offered. I tested negative for a BRCA mutation. I am a terrible worrier, so I opted for a mastectomy of my left breast.

In 2018 I had multi-panel genetic testing and learned of my ATM mutation. I had a preventive mastectomy on the right side after learning of my mutation.

My mother was then tested at Mayo Clinic and she was also positive. Thankfully, she never had cancer. She was raised in a rural area where there was minimal medical care, so we are not certain what caused the deaths of her family members. It is possible there was cancer in her family, but we have no way of knowing.

Upon learning of my mutation, I was in disbelief because I had never had any issues and had no family history. I looked at this very much as a work project. I understand my odds to be good and because I tend to worry, I wanted to make a decision that limited my anxiety. I researched and studied everything I could find. The cancer library at Mayo Clinic was fantastic.

Once I learned of my mutation, I found FORCE. I loved the research links that were provided and read everything I could find. I have actually found being a peer navigator to be an ongoing learning experience.  I realize in speaking with others that I was afforded a fantastic experience at Virginia Mason and Mayo Clinic. I realize not everyone has these opportunities, which is why I urge people to challenge their community medical experience to be better.

 

Posted in: Stories
Tags: Hereditary Cancer , Genetic Testing , ATM , Mastectomy

5 Comments

October 7, 2023

Marnie says:
I was diagnosed with breast cancer in 2019, at age 54, and found out I had the ATM gene mutation shortly thereafter. I had a double mastectomy to avoid any future breast cancers. Prior to that, only my first cousin had breast cancer in my family, and she tested negative for ATM gene mutation. However, my father had prostate cancer (which can be linked to ATM), and my maternal grandmother had gastric cancer (which also can be linked to ATM). Both are deceased, so I will never know what side of the family had the ATM mutation. I also had renal cell carcinoma in 2011, which currently isn't linked to ATM, but who knows? I had my ovaries and fallopian tubes out because ATM can be linked to ovarian cancer. I am most worried about the link between ATM and pancreatic cancer. I get endoscopic ultrasounds of my pancreas every couple of years to make sure nothing is going on. My GI doc also recommends colonoscopies every 3 years. Lots of testing, but I want to catch whatever happens early!!!!!! My kids are all getting tested for ATM as well.

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July 15, 2023

Melanie Pepin says:
Hi ladies. I am a 70 yo woman with bladder cancer diagnosed about 3 years ago. Doing well after a cystectomy, chemo and immunotherapy. I too was found to have an ATM pathogenic gene sequence. My healthy 99 year old mother, my 72 year old healthy sister, my 40 year old daughter and 40 year old niece have it as well. We do not have a family history of breast cancer. The variant that I have is a missense mutation (rather than a "null" mutation). I wonder if the type of mutation defines the risk.... What type of mutations do you have?

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July 1, 2021

Mitzie says:
I too have the ATM mutation. I have Stage 2 Breast Cancer and dmx scheduled for 7/7. Will I be able to do radiation or chemo if I have to?

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November 22, 2021

Heather Kohon says:
A year ago I found out I had the ATM gene after being diagnosed with Breast Cancer. My concerns now are the other cancers that it can be attached to. I will be talking to my oncologist but just wondering how you handle the other cancers it could cause in the future. Thank You.

Reply


November 22, 2021

Heather Kohon says:
A year ago I found out I had the ATM gene after being diagnosed with Breast Cancer. My concerns now are the other cancers that it can be attached to. I will be talking to my oncologist but just wondering how you handle the other cancers it could cause in the future. Thank You.

Reply

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