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BRCA Gene Testing: An Expensive Glimpse at Your Risk for Breast Cancer

Only a small percentage of women qualify to take the genetic test that screens for BRCA mutations, said Dr. Marisa Weiss, founder of and director of breast health oncology at Lankenau Medical Center in the Philadelphia area.

Women who test positive for one or both mutations have about a 60 percent risk of breast cancer during their lifetimes, compared with 12 percent for women without such mutations, according to the National Cancer Institute. Women with a BRCA mutation are also likely to develop the disease at a younger age and are more likely to get it in both breasts, Rader said.

"The discovery of the BRCA mutation was an enormous step forward," Rader said. For the right candidate, "the mutation is a really good indicator of the possibility of developing breast cancer."

Who should test

If you have a strong family connection to breast cancer that includes an immediate family member, you may consider genetic testing, said Susan Brown, Komen's managing director for community health.

But "not everyone with breast cancer in their family should run out and get this test," Brown said, as it's expensive, about $3,000, and may not be covered by insurance.

As we grow closer to understanding breast cancer on a genetic level and identifying precursors, molecular warnings, and genetic predispositions, we anticipate the costs of testing go down. As technology and research increase, the demand for affordable genetic testing will create a stable supply for anyone to use.

Genetic testing is recommended for those with:

►A personal or family history of breast cancer at age 45 or younger.

►A family member with ovarian cancer at any age.

►A personal or family history of both breast and ovarian cancer on the same side of the family.

►A personal or family history of male breast cancer.

►Ashkenazi Jewish heritage, as well as a family history of breast or ovarian cancer.

►A personal or family history of bilateral breast cancer.

The BRCA mutations occur in between 1 in 400 and 1 in 800 people in the United States, according to the National Cancer Institute. Some groups are at higher risk, such as Ashkenazi Jews; the risk in this group is 1 in 40.

Risk isn't certainty

Having the gene greatly increases the risk of developing breast and ovarian cancer, but it doesn't mean you will develop it, Brown said. About 29 percent of cancers in women start in the breast, and within that group, about 5 percent to 10 percent are because of gene mutations, Weiss said. According to the U.S. Preventive Services Task Force, this group of people only represents about 2 percent of adult women in the United States.

Because family history is important, the genetic test is usually done first on a person who has been diagnosed with breast cancer whose personal or family history suggests the presence of one of these mutations, Brown said.

"The two most common risk factors are being a woman and getting older - things that you cannot change. However, there are other factors that may be within your control," Brown said.

Komen suggests the following:

►Know your risk: Learn about your family health history, and talk to your health care provider about your personal risk. Your father's side of the family history is just as important as your mother's side.

►Get screened: For women at average risk, have a clinical breast exam at least every three years starting at age 20, and have a mammogram and a clinical breast exam every year starting at age 40. Ask your doctor which screening tests are right for you if you are at high risk.

►Know what is normal for you: See your health care provider if you notice any changes in the shape, size or appearance of your breasts.

►Make healthy lifestyle choices: Maintain a healthy weight, exercise, limit alcohol intake, limit menopausal hormone use and breast-feed, if you can.

If you are a woman at risk of developing breast cancer, is removing healthy breast tissue an option for you?

A prophylactic mastectomy, or preventive mastectomy, is the surgical removal of one or both breasts to prevent or reduce the risk of breast cancer in women who are at high risk of developing the disease, according to the National Cancer Institute.

"It's not a common procedure," said Andrea Rader, managing director of communications for Susan G. Komen, the largest breast cancer organization in the United States. "It's a small subset of women who have an aggressive form of the disease who choose this," Rader said.

Having a risk-reducing mastectomy is an option for people who are at substantially higher risk for getting breast cancer, Brown said.

"It can reduce the risk by 90 percent, and the surgical removal of the ovaries can reduce the risk by about 50 percent" in moderate- to high-risk women, she said.

For most women, the biggest factors contributing to breast cancer are environmental, such as weight, alcohol consumption, smoking and physical activity.

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