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This Is The Gene Mutation That Made Angelina Jolie Remove Her Breasts

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Angelina Jolie

Actress Angelina Jolie revealed in a op-ed for "The New York Times" on Tuesday that she recently had both her breasts removed in the hopes of lowering her breast cancer risk.

Jolie, 37, had what is known as a preventative double mastectomy, after learning that she was at high risk of developing breast and ovarian cancers due to the mutation of the breast cancer susceptibility gene known as BRCA1, which is inherited from either the mother or father. 

Jolie's mother died from ovarian cancer in 2007. She was 56.

Women who are carriers of a mutation in BRCA1 or BRCA2 have a high, lifelong risk of hereditary breast and/or ovarian cancer. This is characterized by a lifetime risk of breast cancer that ranges from 60% to 85% and a lifetime risk of ovarian cancer that ranges between 15% and 40%, according to a study published in The New England Journal of Medicine. 

Jolie says her doctors estimated that she had an 87% risk of breast cancer and a 50% risk of ovarian cancer.  

The Oscar-winning actress and U.N. special envoy decided to undergo an extensive procedure, which included three surgeries between February and April, to significantly reduce her cancer risk. 

After the surgeries, Jolie says her chance of developing breast cancer is now less than 5%.  

The preventative operation to remove breasts before showing signs of cancer is generally not recommended for patients without a genetic predisposition to the disease.

Additionally, not all doctors agree that a preventative double mastectomy is the right way to go. While there's a high cancer risk for those who have mutations in the BRCA1 and BRCA2 genes, these account for only 2 to 3% of all breast cancers.

Still, for patients who have to live with the thought of one day developing breast cancer, a double mastectomy may be more about improving the quality of life than ultimately saving a life.

Jolie, a known activist for women's rights, hopes her story will encourage other women to get the appropriate genetic screening and take preventative measures if that's what their doctor recommends. 

She notes, "the cost of testing for BRCA1 and BRCA2, at more than $3,000 in the United States, remains an obstacle for many women."

A study in the journal Nature, published in 2007, acknowledged the same roadblock. BRCA1 and BRCA2 mutations "account for a disproportionately large share of life-years lost due to cancer because familial breast and/or ovarian cancer tends to occur in women at relatively young ages," the study authors wrote. 

It continues: "The considerable costs and technical limitations of BRCA1/2 mutation analysis, however, still prohibit wide application of these tests in all women at high risk."

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