Genetic Disorders Expert Forum
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I am 27 and I have a strong family history of Breast Cancer in my family.  About 2 years ago I was tested for the BRAC gene mutations due to abnormal mammo's and ultrasounds.  Please help me understand what I was told about the findings, as I have had several biopsy's since then and have more too come.  It seems like every 3-6 months they are finding new "area's" in either breast that call for biopsy, primarily complex cysts (sister diagnosed @ 26 yrs old --complex cyst).  I am under the understanding that I have tested negative for either gene.  Apparently my test revealed some areas (cells?) in the BRAC2 (second position?) that would contribute to a "mutation" but not enough of the 800 "cells"  in the BRAC2  gene had problems to diagnose as a positive mutation?  Does this make since?  Does that just mean it was inconclusive results and I'm not being told that?  Pretty much what does it mean?  IIf it is negative, what else could be causing this to happen so often.  I will be going for my 4th biopsy in the last 2 years, all of which had 3 or more complex cysts needing to be biopsyed, 1 of which I had to have an "open" biopsy.  All finding have come back benign this far. Please help me understand the process of the genetics test that came back negative? Thank you so much!
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It sounds like you are going through a great deal.  Interpreting genetic test results is complex, and you may benefit from meeting with a genetic counselor who can help you understand the meaning of the BRCA1/2 test results.  It may help to obtain a copy of the actual lab result to share with a genetic counselor.

As you know BRCA1 and BRCA2 are two genes that when changed, are associated with an increased risk of breast and ovarian cancer.  These gene changes can run in families.

A genetic counselor can be found through the National Society of Genetic Counselor’s website or through companies like mine, DNA Direct.  DNA Direct offers telephone consultation with board-certified genetic counselors.  Best wishes to you.
My sister is 31 and was just diagnosed with stage 3 breast cancer. She is currently doing chemotherapy and is soon having a double mastectomy, and a full hysterectomy. Her white blood count is off, and she has to take injections at home. She tested positive for the BRCA1 and BRCA2 mutated gene. I am two years younger, and have not been checked yet. Do you have any advice or general knowledge of what to expect in my sisters near future with having these genes plus already being in stage 3?
thanks, any info is greatly appreciated.
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