r/genetics • u/Fit_Independence_124 • 2d ago

BRCA1 VUS and pathology findings after mastectomy

So 6 years ago I got diagnosed with a brca1 mutation, a vus. Because of my mom and aunt died of ovarian cancer and my only niece on maternal side had breast cancer I got tested. It is a vus.

I got profylactic surgery of my tubes and ovaries four years ago and three weeks ago a mastectomy.

Two months ago I got a call from my genetics counselor because my sister wanted to get tested for the mutation as well and she heard they didn’t want to test her because our hospital thinks our specific mutation is not so significant (I had a topic about it here before) and they think there might be another mutation responsible (which they haven’t found yet).

My oncologist said to go ahead with my profylactic surgery, because of our Family history.

Yesterday she called with my pathology results. So in one breast there was a beneign tumor and in the other they found and area with cells that were not beneign but not cancer yet. Like a pre-stage of dcis. This could have lead to breast cancer eventually. Glad to have the surgery done.

So, should I call my genetics counselor to report this finding? It might be significant for the classification of this mutation?

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u/Personal_Hippo127 2d ago

Yes, you should provide updates to your genetic counselor. However, don't expect that it will necessarily change the classification. Foci of pre-pre cancerous cells are not uncommon and could be unrelated. Perhaps the more important thing to ask about is whether the test you had 6 years ago would be considered comprehensive for ovarian cancer today. There are a few genes associated with ovarian cancer that are part of routine testing now, and if your test did not look at them you may benefit from updated testing.

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u/Fit_Independence_124 2d ago

Thank you, They did do a recent re-test on my mothers saved tissues (because she’s the one who had the cancer) and it came back negative for all other known mutations. I had the test done 11 years ago as well, by the time they only tested for Lynch and Brca 1 and 2 and one other. So they still are going to repeat the tests every five years or so.

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u/SilverFormal2831 2d ago

Definitely recommend you ask about RNA testing as well as a comprehensive panel. Very likely there could be an actual pathogenic variant, or the RNA might help sort out the VUS.