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A member asked:
34yr old sister had a brca test done.her results came back as positive for one copy of c.6937+594t> g mutation in brca 2 gene.what does this mean?
A doctor has provided 1 answer
? deleterious, now U: The testing report should specify if this is a "deleterious" mutation. If it is, then it is present throughout all her breast tissue increasing her risk of a second/subsequent breast cancer. It also confers a significant risk of ovarian cancer. As a 1st degree relative, you would have a 50% chance of carrying the same mutation and should be tested for this specific mutation.
Answered 5/7/2015
4.4k views
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