Jolie's Double Mastectomy May Be Overused, Experts Say

Rachel Joy Horn's breasts were ticking time bombs. She lost trust in her body and no longer felt comfortable in her own skin.

This is how she felt, she said, when her doctor broke the news to her that she'd tested positive for a gene mutation that put her in the high-risk category for developing breast cancer. So at the age of 21, Horn chose to undergo double-mastectomy surgery to remove both her breasts and, hopefully, the future threat of cancer.

"By the time I was tested, my mom had gone through breast cancer twice so I already had it in my mind that surgery was a possibility for me," the Los Angeles woman, now 23, said.

Horn is certainly not alone in her decision. Stars like actress Christina Applegate, talk-show host Sharon Osborne and, most recently, Oscar-winner Angelina Jolie have revealed that they, too, have chosen to preemptively removed their breasts because of a strong genetic predisposition for breast cancer.

Jolie's Double Mastectomy Decision for Kids

It sounds like an extreme choice but a woman who has inherited a harmful mutation of either the BRCA1 or BRCA2 gene is about five times more likely than average to develop breast cancer and up to 40 percent more likely to develop ovarian cancer, according to the National Cancer Institute. Experts increasingly believe that removing as much breast tissue as possible can be a lifesaving strategy.

As Dr. Mehra Golshan, director of Breast Surgical Services at the Dana-Farber Cancer Institute and Brigham and Women's Hospital in Boston explained it, "For women who know in advance there is a good chance they will develop breast cancer sooner or later, having prophylactic surgery can make sense. It lowers the risk of developing cancer by more than 90 percent."

In one recent study that followed nearly 2,500 women who carried one of the two dangerous gene variants, having a double mastectomy did appear to lower their risk of breast cancer. None of the women who opted to have their breasts or ovaries removed were diagnosed with breast cancer in the three decades they were followed, while 7 percent of those who chose not to have surgery were.

Horn said that removing her breasts gave her the sense that she had dodged a bullet.

"I remember waking up after surgery and feeling groggy but happy," she recalled. "I immediately felt relieved that I no longer had this cancer diagnosis hanging over my head."

Angelina Jolie's Mastectomy: What You Should Know

But even though the data show a preemptive strike against breast cancer can improve the chances of survival in women with inherited risk, some medical experts are concerned that instead of fighting to save their breasts as they did in the past, many women are choosing to remove them at the slightest whiff of cancer.

The Journal of Clinical Oncology reported a 188 percent jump in the surgery between 1998 and 2005 among women given a new diagnosis in one breast of ductal carcinoma in situ, or DCIS, the "stage zero" cancer. Among women with early-stage invasive disease, the rates soared more than 150 percent.

"Many women choose to have other breast removed to avoid the trauma of going through breast cancer again even though, in reality, the chances of reoccurrence are very low," said Dr. Julian Kim, chief, of oncologic surgery at the UH Seidman Cancer Center in Cleveland.

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Jolie's Double Mastectomy Still Debated

Angelina Jolie says she has no regrets about going public with her very private decision to have a preemptive double-mastectomy to slash her risk of developing breast cancer.

"I'm very happy to see the discussion about women's health expanded. That means the world to me," Jolie told "Good Morning America" Sunday as she walked the red carpet with boyfriend Brad Pitt at the London premiere of his new film, "World War Z."

Angelina Jolie: 'Really Grateful for All the Support'

This was the actress' first public appearance since penning a New York Times essay explaining how she had both breasts removed after being diagnosed with a rare mutation of the BRCA gene that put her risk of developing breast cancer at nearly 90 percent.

In revealing her medical choices to the world, experts say she instantly created global awareness for genetic screening and preemptive medical procedures.

Dr. Michael Cowher, a breast cancer surgeon with the Cleveland Clinic, said the hospital's breast services clinic has not been tracking exact statistics but there has been a noticeable increase in patient inquiries about BRCA screening.

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"Personally, I haven't had a new patient who hasn't asked about genetic testing in the past few weeks since Jolie's announcement," he said.

Dr. Laura Corio, an OB-GYN at Mt. Sinai in New York City, agreed.

"We've been offering genetic testing for a while but now patients are asking for it more often and when they do, they seem more informed about their choices," she noted.

While the experts generally agree that Jolie has handled herself admirably and has provided valuable information to the public, they worry there is also a downside to her revelations.

According to the American Cancer Society, a case like Jolie's is relatively rare. Only about 5 percent of breast cancer cases can be linked to a faulty BRCA gene.

Jolie's Double Mastectomy Not Always a Lifesaver

"Not every woman needs to be tested and not every woman who tests positive for a BRCA gene mutation should have a double mastectomy," said Dr. Otis Brawley, chief medical officer for the American Cancer Society. "My concern is that not everyone reading what she wrote will understand this."

According to Brawley, only women with a strong family history of breast cancer where close relatives have been diagnosed with the disease at a young age are good candidates for genetic testing. Jolie lost her mother and her aunt to breast cancer.

"I think we need to do a careful job explaining who should and who shouldn't be tested," Cowher said. "I've had several patients who have asked to be tested and who have not met criteria, to their dismay."

Dr. Sandhya Pruthi, a consultant in the breast diagnostic and high risk breast clinic at the Mayo Clinic in Rochester, Minn., said that even a woman who undergoes genetic testing might not get the answers she is looking for.

"If they don't test positive this might lead to a false reassurance that they have nothing to worry about when they could be positive for some other genetic mutation we don't know about yet," she said. "Or testing positive for a mutation with unknown significance can create even more uncertainty and anxiety."

Pruthi said women who do test positive for a high-risk BRCA gene might be able to lobby for better health insurance coverage for mammograms and other surveillance tests, but might also have a harder time getting life insurance.

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Angelina Jolie's Mastectomy: What You Should Know

By going public with her prophylactic double mastectomy, actress Angelina Jolie has again shone the spotlight on breast cancer and the genetic mutation known to increase the risk of getting it by 60 percent.

(Jolie wrote that her doctor told her she had an increased risk of 87 percent, adding that the risk is different for each woman. An NIH?study?found this number to be too high.)

Although Jolie, 37, has the potential to save lives by raising awareness, facts about testing for the mutation and undergoing preventative care can be confusing. Here’s what you need to know:

The test for the genetic mutation, called BRCA, is a simple blood test, but it’s not for everyone. It’s not always covered by insurance and can cost about $3,000, so you should know whether you’re one of the 2 percent of women who have a family history that makes them more likely to have the BRCA mutation.

This is cancer.gov‘s list of family history to consider before undergoing BRCA testing:

For women who are not of Ashkenazi Jewish descent: two first-degree relatives (mother, daughter or sister) diagnosed with breast cancer, one of whom was diagnosed at age 50 or younger;three or more first-degree or second-degree (grandmother or aunt) relatives diagnosed with breast cancer regardless of their age at diagnosis;a combination of first- and second-degree relatives diagnosed with breast cancer and ovarian cancer (one cancer type per person);a?first-degree relative?with cancer diagnosed in both breasts (bilateral?breast cancer);a combination of two or more first- or second-degree relatives diagnosed with ovarian cancer regardless of age at diagnosis;a first- or second-degree relative diagnosed with both breast and ovarian cancer regardless of age at diagnosis; andbreast cancer diagnosed in a male relative.For women of Ashkenazi Jewish descent: any first-degree relative diagnosed with breast or ovarian cancer; andtwo second-degree relatives on the same side of the family diagnosed with breast or ovarian cancer.

In all, between 0.125 and 0.25 percent of women will test positive for the BRCA mutation, and it varies by ethnicity. These women have an increased risk of getting breast cancer and ovarian cancer.

If you do test positive for BRCA, you have options, and you don’t necessarily have to go the Jolie route.

Some women choose not to have surgery. Instead, they increase cancer surveillance with imaging tests. These include regular mammograms to test for breast cancer, and regular pelvic sonograms and blood-tests to watch for ovarian cancer.

It is important to note that surveillance or screening does not reduce risk, but rather potentially improves early detection of cancer should it occur.

Other options include chemo-prevention, or taking certain medications to reduce cancer risk. For example, some women take a drug called tamoxifen to prevent breast cancer and others take birth-control pills to prevent ovarian cancer.? These decisions are individual, highly personal and often times very difficult ones for a woman and her family to make.

Like Jolie, some women choose surgery when they learn they have the BRCA mutation. The decision to surgically remove the breasts and ovaries is an individual one and must take into account the woman’s age, fertility and reproductive wishes, psychological factors and cost. Her general medical condition for undergoing elective surgery should be taken into consideration, too.

Often, the reconstructive process is done in stages for a few months and can cost as much as $50,000. Fortunately, since 1998, women without medical insurance have increased options and mandatory coverage for undergoing breast reconstruction after mastectomy.

Because these decisions are complex, patients can seek consultations with oncologists, general gynecologists, gynecologic oncologists, breast surgeons and reconstructive plastic surgeons.

While studies have shown a significant risk reduction and likely survival benefit in women with a BRCA mutation who undergo preventive surgery, their risk does not drop to zero. There is still a low chance of developing breast cancer in the chest wall, and ovarian cancer in the pelvic cavity.

Men carry the BRCA mutation, too, so if a woman with a mutation has a son, he has a 50 percent chance of being a carrier and having the mutation.? Men with the mutation face increased risks of breast cancer, certain kinds of pancreatic cancer, testicular cancer and prostate cancer.

While the information presented here represents the medical tip of the iceberg, the hope is that? it can begin the process of informing, educating and empowering both women and men about this kind of genetic mutation and cancer risk.

Angelina Jolie revealed she had genetic testing and a double mastectomy. (Credit: Carlo Allegri/AP Photo)

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