BRCA2 negative and now positive
Hello, I was first diagnosed in 2015 with early stage IIb. I had genetic testing done at the time and was negative for all mutations including BRCA1 and 2. I had a recurrence in 2022 and I had the Caris test done on the tumor and again no BRCA found. Just within the last month I had a PET scan turn up some swollen lymph nodes. Upon node biopsy they found breast cancer cells which means I am now metastatic. So I was on Verzenio at the time and my oncologist ordered a Gardant test to be done because he suspected that my cancer cells had mutated if the Verzenio stopped working for me. The Gardant test results came back today with a BRCA2 mutation. My oncologist says it is not something I was born with in my "germline" it is just a cancer mutation. I was wondering if this has happened to anyone else. I am more concerned if my daugher and son, sisters, etc should now have genetic testing done. He will be starting me on Lynparza asap.
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So sorry to read that you have metastatic disease. However, since the BRCA mutation in your cancer cells is not inherited, there’s no pressing reason why healthy relatives need testing at this point. Perhaps a genetic counselor could explain this better. Ask for a referral. These professionals with master degrees can take a family history, look for patterns, etc.
The PARP inhibitors are a good choice for your treatment. I also managed to get over 3 years out of Verzenio but now have been through several lines of chemo, getting just a couple doses on some. Best wishes for a long run on your new pills!
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thanks so much. Yes maybe I do need to go to a genetic counselor. I never have been to one.
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