Angelina Jolie's Double Mastectomy: What to Know About the 'Faulty' Gene

Posted: May 16, 2013 at 7:49 pm

By Sharon Cotliar

05/16/2013 at 07:00 AM EDT

The announcement not only made headlines around the world, but prompted questions of whether other women need to be concerned if they too carry the mutated gene.

Here are seven things to know:

1. What is BRCA1 and BRCA 2? They're genes everyone has. But those who have a bad copy or mutation are at increased risk for developing breast and ovarian cancer.

2. How common is it? Less than 1 percent of people in the U.S. have one of these mutated genes, but the prevalence is higher among Ashkenazi Jews and among those with a personal or family history of breast or ovarian cancer. Still, only 5 percent of the 220,000 cases of breast cancer diagnosed in the U.S. each year are related to the defective genes.

3. What are the odds of inheriting the mutated gene? If one parent has the gene mutation, there's a 50-50 chance of getting a bad copy of the gene. "Both your mother and father's side matters," says Dr. Susan Domchek, director of the Basser Research Center at the University of Pennsylvania.

4. What are the odds of developing breast or ovarian cancer if you have one of the mutated genes? "They're dramatically higher than the general population," says Dr. Mehra Golshan, director of breast surgical services at Brigham and Women's Hospital in Boston.

Between 60 percent to 85 percent develop breast cancer and between 20 percent to 50 percent develop ovarian cancer. "That's why it's important to consider genetic testing if you have a family history," says Dr. Golshan.

5. What can you do about it if you're a carrier? More women are choosing to undergo preventive mastectomies, as Jolie did. Women can also opt to be monitored closely for signs of cancer or precancerous red flags, undergoing more frequent mammograms and MRIs.

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Angelina Jolie's Double Mastectomy: What to Know About the 'Faulty' Gene

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