What Is Involved in Genetic Testing for Breast Cancer and What Do the Results Mean?

Question: What is involved in genetic testing for breast cancer and what do the results mean?

Answer: The question often comes up: should I be tested for the breast cancer gene? And actually we know two genes right now -- BRCA1, BRCA2, that stand for "Breast Cancer 1" (and) "Breast Cancer 2" -- that are behind this susceptibility in the dramatically affected families where about half of the women in the family are developing breast cancer at an early age and ovarian cancer can be seen as well.

So if we have a patient who gives us that kind of family history -- also an Ashkenazi Jewish background - those women have a higher likelihood of inheriting such a mutation, then we certainly consider genetic testing. Why? It will help us counsel this individual woman. Is she at risk for ovarian cancer? Is she at a higher risk for a second breast cancer? And relatives of hers can be tested for the mutation if one is found, even though they haven't had cancer yet. They can then be counseled, what is their risk of developing breast cancer and ovarian cancer? So that's the population where we often recommend genetic testing.

Next: What if I'm a Man with Breast Cancer Carrying a Mutation of One of the Breast Cancer Genes?

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