Variants of Unknown Significance on Genetic Tests

shycat

About four years after learning I had two VUSs I received a letter notifying me that my BARD1 VUS was now considered "likely benign".  That was nice.

I can only dream of getting the same letter for the ATM VUS since ATM mutation is also linked to pancreatic cancer.  At least at the time, I was the only reported case for my particular ATM variant, so it seems unlikely.

Shy

iChan25

Shycat - I too have a VUS in ATM. No family history of any cancer so my medical team is assuming it is probably benign and not to base any medical decisions based on this. However I am concerned that it might cause radiation sensitivity. I too have Stage III and will probably need radiation. Did you have any problem with rads

spratt5

I was just told (age 42) I have a VUS with both BRCA 1 & Chek2 genes. No family history of breast cancer. BS & I decided on Bilateral Mastectomy in a few weeks even though I have just Left IDC.

Rrobin0200

my results yielded VUS as well. I chose the mastectomy route. Didnt want to take any chances.

Meowmmy65

I did testing a year and a half ago and had 3 VUS - 2 on the ATM gene. I had a lumpectomy, chemo, and radiation. This week, I was notified that one of the ATM VUS is now upgraded to clinically significant with a high cancer risk. Yup. I'm now higher risk for recurrence and at risk for pancreatic. That's a little scary.

Now, my 2 daughters, 5 siblings, and mom are getting genetic testing so that we can determine who else might have this and which line it came from. Dad died from bone cancer in 1985, so we can't test him.

So, I'm officially a mutant. Why can't I have a cool mutation, like Elasta-girl? Getting cancer is not a fun super-power.

A more aggressive monitoring schedule is now in the works, with a mammagram and breast mri annually.

SimoneRC

Hi Meowmmy65!

Sending a warm hello from a fellow ATM mutant! Sorry to welcome you to the Club. My family history and ATM mutation has led me to bilateral mastectomy, total hysterectomy and BSO. I also have an annual colonoscopy. My genetic counselor said the pancreas tends to be an issue only with ATM people who have family history. Keeping fingers crossed for that one as mine does not. My Deletion mutation covers 2 Exons so my family history is likely more active than the average ATM’er. I am treated at a major academic hospital. My family is currently the only ATM’ers there that have multiple issues going on. It tends to be a moderate risk gene for most. Make sure you are up to date on your colonoscopy as well.

Good luck to you and all of your relatives

Breezystar

Your situation sounds similar to mine. I had genetic testing after Radiation for DCIS. How are you doing?

Meowmmy65

Hi SimoneRC...

Colon cancer is part of my family history, so I stay up to date on those screenings. I haven't said anything to anyone, but bilateral masectomy has been in my thoughts a lot lately. I don't know that I'm there yet, but I've definitely thought a lot about it.

Thanks for the good thoughts.... sending them to you as well!