BRCA-1

Question: I am 33 years old with a mother and aunt all with breast cancer. I was diagnosed with IDC, grade III two months ago. I also tested positive for BRCA-1. However, my cancer was not the usual type according to my doctor–it was not the “triple negative” type and so I wonder if there could be a mistake with the pathology or maybe the test for BRCA-1 was incorrect? I am deciding on double mastectomies and wonder if I should get re-tested.

Answer:  I am sorry you were diagnosed so young and it seems there is a strong family history of breast cancer so I think it was wise for you to get the test.  If you were tested at a reliable institution/laboratory, I wouldn’t question the genetic BRCA test at this point.  You can always check with your doctors regarding the credentials behind the laboratory that ran your test and I recommend that patients do that for all of their breast cancer care. While it is possible the pathologist did not read the breast cancer marker panel (ER/PR/HER2) correctly, not all BRCA-1 associated cancers are so-called triple negative. In fact, just last month in the Journal of Clinical Oncology, a study showed that up to 43% of the BRCA-1 patients they studied were NOT triple negative.  You didn’t mention which part of your immunohistochemistry panel was positive but that is what your medical oncologist will focus on in determining your next treatment plan. If you are ER positive or HER2 over-expressed/amplified that opens up other treatment options for you.

Leave a Reply