Any new info on ATM VUS?

I’m positive for ATM p.N31K, which is classified as a Variant of Unknown Significance (VUS). Does anyone know if science is any closer to being able to determine if this VUS is Likely Benign or Likely Pathogenic?

I had bilateral mastectomy with sentinel lobe biopsy about six weeks ago for grade 3 DCIS with comedo necrosis and cancerization of lobules by high grade DCIS. My results are excellent. But there’s both pancreatic and stomach cancer in my family, so I want to keep abreast (no pun intended haha) of ATM VUS updates. Seems like there is much known about other ATM variants, which makes me wonder if the VUS is close to an update. Thanks, all!

Comments

  • moderators
    moderators Posts: 9,847

    Hi @marshmella, we're sorry for the worries that have led you here. If you have a mutation with a "variant of uncertain significance" (VUS), it will be best to consult with your genetic counselor who can discuss your personal risk and any next steps.

    A "VUS" indicates that there is a noted change in your ATM gene, but we don't yet know if that change is linked with a higher risk for cancer. According to Memorial Sloan-Kettering, most ATM-VUS are eventually found to be normal changes that won't affect your health, but your genetic counselor would be the one most informed of any newest findings.

  • Hi Marshmella. I had a VUS different from yours (MSH6) and I was also very concerned because of other cancers in my family that are associated with that gene. I had my test in the summer of 2022. Just a few weeks ago I got a letter from the testing company that my variant has now been determined to be benign. So three years. If you have very strong google-fu you might be able to find a preliminary report. I found one that said my variant was undergoing lab tests, so I knew they were working on it.

  • thank you and stay strong!!

  • Maggiehopely, I also want to thank you for introducing me to the term “Google-fu”