Need advice on uninformative BRCA test

Sahar

Hello All,

I come from a family with a huge family history of breast and ovarian cancer. My mom is BRCA1+ and I am currently awaiting my BRCA testing. One of my cousins is BRCA2+. It's strange since they found 2 different mutations in my family but the good news is they tested my mom for my cousins BRCA2 mutation and she didn't have it. So I'll be tested on my mom's BRCA1 mutation. My question is actually regarding my other cousin (the sister of the BRCA2 positive cousin!). Almost 10 years ago, before my mom and her sister were diagnosed with BC and tested for BRCA, she underwent a BRCA test and the result came out negative. We all thought she was really negative, but I think at that time she was uninformative because there were no known mutation in the family back then. 7 years fast forward, her sister was found BRCA2+ and my mom (her aunt) was found BRCA1+. Does this make her uninformative negative a true negative now OR does she need to be tested for her sister's and my mom's known mutation?

MelissaDallas

I think it is a true negative, because they wouldn't have limited the testing to known family mutations. Also, I have seen here when women have gotten letters years after their testing saying that the aberration of unknown significance they tested positive for is now considered problematic. So, they keep up with you as knowledge is added to what we now know.