6/27/19: The Genetic Counselor Called Me with Testing Results

It's good news.

My testing for the 9 most common genes linked to a significant increase in risk for breast cancer showed no known mutations. This means I do not have a known inherited risk for breast cancer.

However, the testing did show that I have "variants of unknown significance" (VUS). The variants were found in my BRCA2 and PALB2 genes. The genetic counselor said they don't see these kinds of variants often enough in the lab to know if they are linked to cancer or not. They might just be benign mutations that occur in the general population.

Since not enough is known about these variants, they won't affect my surgery plans. That is, my genetic testing results do not provide additional justification for a double mastectomy.

Still... It struck me that the genetic counselor specifically used the word "known". I don't have any known mutations. But maybe my two variants are unknown mutations linked to breast cancer... After going through my family history with the genetic counselor, the prevalence of cancer on one side of my family seems concerning enough that it wouldn't be too hard to believe that there may be something genetic, even if it's not yet known...

Anyway, I did opt to do the further testing for the 83 genes associated with various hereditary cancers. The genetic counselor will call again with those results when they come in.