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More Testing for Gene Mutation Could Detect Breast Cancer Earlier

More Testing for Gene Mutation Could Detect Breast Cancer Earlier

Estimated read time: 2-3 minutes

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Dr. Kim Mulvihill Reporting If you have a particular gene mutation, called BRCA, you are at a much higher risk for breast and ovarian cancer. Until now, doctors only tested women for this gene if they had a family history of breast cancer, but a new study says family history may not tell the whole story.

Even though men don't often get breast cancer, dads can pass this gene along to their kids. Contrary to current practice, many breast cancer patients with no family history should be offered genetic testing.

Breast cancer survivor Michele Rakoff said, "I had no family history and I didn't expect to be diagnosed with breast cancer, but I went for my first mammogram and sure enough they found a small cancer."

Michele was just 40 when she got breast cancer. Since she didn't have a family history, doctors would not assume she had the breast cancer gene. Typically only women with a strong family history, where at least three female relatives have had the disease, are tested. A new study suggests that recommendation should change.

Jeffrey Weitzel, M.D., says, "We want to be sure to offer testing to all women who had early onset breast cancer, despite the lack of a family history."

Researchers analyzed the genetic tests of more than 300 women who were diagnosed at an early age with breast cancer. Among those with strong family histories, only five percent tested positive for the mutation. Among those with no family history, 14 percent tested positive.

"What we showed was that if you had a limited family structure, not enough women in the family to help see the trait, that you were three times more likely to be a carrier," Dr. Weitzel said.

That's important because if doctors know you have the gene, they know to treat the cancer more aggressively and to watch out for ovarian cancer.

Michele Rakoff had the genetic test, and did not have the gene, but she is now an advocate for breast cancer patients. She says, "We need to make sure that women are aware that you can get a genetic mutation through the line of your father as well as your mother."

Dr. Weitzel agrees, and says if you're diagnosed with breast cancer under age 50, getting a genetic test could help save your life.

Among all women with breast cancer, only one in 20 has the breast cancer gene, but among younger breast cancer patients, that percentage is higher. Women who have the gene are more likely to get a second cancer in the other breast, and more likely to get ovarian cancer.

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