Anybody with the ATM gene mutation?

Katy44

I was diagnosed with Stage 2 Breast Cancer, HER-2 Positive. I have a bunch of cancer in my family so I was able to get the Gene Testing. I did test positive for the ATM Gene Mutation. I just got my results today. It says a Variant of Uncertain Significance was identified in ATM. My doc said that is all they know, and they don't know much more on it. I guess that is where the word "uncertain" comes from. The paper says I have increased risk of breast cancer, pancreatic and prostate. On my fathers side of the family, My dad had Prostate Cancer and his sister (my Aunt) has Pancreatic Cancer. But then the explanation says that an ATM mutation is common with Colon Cancer. My Aunt on my moms side had Colon Cancer. Gosh! So mad that I have an uncertain Gene Mutation. They do not suggest that anyone in my family get tested because it is so uncertain. The only thing they recommend is that after I am finished with Chemo and surgery that I get a Colonoscopy. So that is all I know so far.

Fab65

Hi Katy44,

I did genetic testing after a tubular adenoma was removed during my colonoscopy two years ago. There is extensive cancer on both sides of my family, hence the genetic testing. The only thing that showed up for me was ATM VUS. I too fall into the same category as you, and it is frustrating to have no idea how much greater a risk we are at. I have also read that this could mean increased risk for breast, and pancreatic cancer. I did not see anything about colon cancer which is what I have been most concerned with most recently. That is until I found a lump in my right breast. Both mammo and US did not indicate the palpable lump, but did find an area of asymmetry on the opposite breast. I am scheduled to see a beast specialist tomorrow, as my PCP could feel the lump too and felt it was a good idea to see a specialist. I hope to have some sort of resolution as to what is going on since I hate to wait the recommended 6 months to re-image. I hope for all of our sake that the ATM VUS gets greater attention so we can all know what course of action we should take when it comes to our health. I guess it will require genetic evaluation of our family members who either had or have cancer to try and pinpoint any correlation with the ATM variant. That's the way I understand it anyway. Best of luck to you )