Angelina Jolie's announcement that she underwent a preventive double mastectomy following the discovery of a gene that raises her risk for cancer has put into the spotlight a difficult decision many women must make.
In a New York Times op-ed titled "My Medical Choice," Jolie explained she underwent the procedure, also known as a bilateral mastectomy, to reduce her risk of developing breast cancer. The 37-year-old actress said her mother died from cancer at 56 after battling the disease a decade, and that her doctor found she carries a "faulty" BRCA1 gene, which sharply increases her risk for developing breast and ovarian cancer.
"Once I knew that this was my reality, I decided to be proactive and to minimize the risk as much I could," she wrote. "I made a decision to have a preventive double mastectomy. I started with the breasts, as my risk of breast cancer is higher than my risk of ovarian cancer, and the surgery is more complex."
More than 232,000 women are expected to be diagnosed with breast cancer in 2013, according to the National Cancer Institute.
BRCA1 and BRCA2 are tumor-suppressing genes, according to the National Cancer Institute, and mutations in these genes have been linked to an increased risk for breast and/or ovarian cancer.
Dr. Myra F. Barginear, a breast medical oncologist at the Cancer Institute of North Shore--LIJ Health Systems in New York, told CBSNews.com that less than 10 percent of breast cancer cases are caused by mutations in BRCA1 and BRCA2, and less than 15 percent of ovarian cancers are linked to mutated BRCA genes. However, if a person tests positive for a mutated BRCA gene, there's up to an 85 percent lifetime risk for breast cancer and up to a 40 percent risk for ovarian cancer.
"I think it's also important to know that men can be affected too," Barginear, added. Men who have mutated BRCA genes have an increased risk for both breast and prostate cancers, she said. About 2,200 men develop breast cancer each year.}
"CBS This Morning" medical correspondent Dr. Holly Phillips explained to CBSNews.com that there is a blood test that takes about three weeks to analyze that can look for these genetic mutations. But, not everyone is recommended for testing to see if they have the gene.
Phillips explained that high-risk groups should get the test, including men and women who had a first-degree relative like a mother or sister that died at a young age from breast cancer. Ashkenazi Jews (who are of European descent) are also at a higher risk, she said, with estimates that up to 1 in 40 Ashkenazi women may have a mutated BRCA gene. People of Scandinavian descent are also at a greater risk.
"But it can pop up in absolutely anyone, so we really rely a lot on family history of breast cancer and ovarian cancer," said Phillips.
The test can also be costly. Philips pointed out the genetic test can cost more than $3,000. Barginear said some people who meet guideline recommendations for who should get tested may be covered by their insurance or Medicare.
The U.S. Preventive Services Task Force, an independent panel of physician experts who advise the government on treatment guidelines, recommend that women whose family history is associated with an increased risk for deleterious mutations in BRCA1 or BRCA2 genes be referred for genetic counseling and evaluation for BRCA testing. The guidelines are currently under review, but the Task Force in an April draft recommendation said it likely still would not recommend routine BRCA testing, because over 90 percent of U.S. women with no family history associated with BRCA mutations won't benefit from a BRCA test.
"You have to put this in context," Barginear said. "It's the exception, not the rule."
If the test comes back positive, a patient may need genetic counseling, because the results have huge implications -- not for just the individual, but other family members, siblings and offspring who may have the gene, said Barginear.
A positive test for a BRCA genetic mutation does not mean a person has cancer, though. It just means there are options to consider. A patient can monitor whether or not she develops breast cancer with monthly self-examinations, yearly mammograms and/or MRIs. Others may preventatively take breast cancer medication like tamoxifen, according to Barginear. However, the drug carries side effects, and data is limited as to whether it may benefit carriers of BRCA1 and BRCA 2 mutations, she said.
Then there's the option Jolie took, which is the preventive double mastectomy.
"I can tell you that faced with the odds and faced with all the statistics, it usually takes a very intelligent women to make the decision to go with a double mastectomy in the [preventive] sense," Dr. Richard Fogler, a breast cancer surgeon at Brookdale University Hospital and Medical Center in Brooklyn, said to CBSNews.com.
Fogler, who has no involvement in Jolie's care, said doctors have been offering this option for decades, even before the emergence of BRCA testing. Some women who had mothers, aunts, sisters, grandmothers and the like with a strong history of breast cancer are offered this choice if they asked for the strongest guarantee that they wouldn't develop cancer. Conversely, some patients don't even want to get this test because they don't want to be faced with the difficult choices that may arise.
"What it comes down to, if you know first-degree relatives have had the disease and succumbed to the disease, and you want to do the closest thing to preventing it, that's the logical decision," Fogler explained.
More women have become convinced to get the preventive procedure with the rise in popularity of reconstruction surgery, he added. Most women who have the double mastectomy will have tissue expanders placed in by a plastic surgeon. After four to six weeks -- while nearby tissue expands and surgical incisions heal -- women can get breast implants.
Jolie said she had her breast tissues removed in February, and then had temporary fillers put in place. Nine weeks later, the final surgery was completed with the reconstruction of the breasts with an implant.
"There have been many advances in this procedure in the last few years, and the results can be beautiful," wrote Jolie.
But, just because the breast tissue was removed, does not mean cancer risk has dropped to zero. Jolie estimated her chances of developing breast cancer fell from 87 percent to 5 percent.
Fogler explained that it might be possible a tiny piece of breast tissue is left behind in these surgeries, possibly obscured by a muscle or fat. He added people with BRCA mutations may still be at risk for ovarian cancer, and could decide to have their ovaries removed -- in a more complex procedure called a prophylactic oophorectomy -- following menopause.
"I think it's a very personal decision," said Barginear. "I think that it was a wonderful article in the sense that it will motivate and inspire dialogue between physicians and patients, and women and their family members. Because I think it's very vital men and women know their family histories."