Testing for genetic mutations

Members of some families have genetic mutations that put them at high risk of developing breast cancer. Clues that you may belong to a high-risk family include having had two or more first-degree relatives--mother, sister, or daughter--with the disease, particularly if the relatives were diagnosed before age 50, or having had a male family member with breast cancer. Another indicator is a relative with ovarian cancer, especially if the cancer was not first diagnosed in old age. Women newly diagnosed with cancer who have a family with these disease patterns should think about meeting with a genetic counselor or geneticist to discuss obtaining a blood test to determine whether they carry the BRCA 1 or 2 gene mutation. Similarly, women from families with these cancer patterns who have not had a cancer but are concerned about their risk may wish to consult a genetic counselor or geneticist.

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People considering testing should discuss the risks, benefits, and possible psychological impacts before making a decision. Knowing that you have the altered gene may increase your self-monitoring and help you guide family members, but it doesn't tell you whether you will indeed develop breast or ovarian cancer. Some women who learn that they have a mutation choose to have their breasts removed prophylactically. But other options include close surveillance or reducing risk by taking tamoxifen. Meeting with a breast-health expert or genetic counselor can help you fully understand your various options.