Question from 5757578:I recently underwent chemo/radiation for LBC. I was genetically tested and found out I had a substitution of lysine for arginine at amino acid position 435 of the BRCA2 protein. Would you recommend having the ovaries removed?
Answer from Kristen Shannon, C.G.C., Massachusetts General Hospital: The answer to the question depends on the interpretation of the test result. If the laboratory indicated that this specific substitution was a "deleterious mutation" (ie. associated with disease) then yes, the recommendation would be to have an oophorectomy at or around age 40. If the laboratory indicated that this specific substitution was a "variant of uncertain significance" (VUS), the answer to your question is less clear. VUSs are small changes in the pattern of a gene, but it is unclear if the change actually stops the function of the gene. Because of this, clinical decisions are typically not made based on this test result. Instead, the clinical decision to remove your ovaries should be made in light of your family history and other risk factors which you should discuss with your individual doctor.
For an additional Reference we will refer you to the NCI's web site entitled: "Your Guide to Understanding Genetic Conditions"