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 Angelina Jolie’s BRCA1 Cancer Gene......... & You!
What would you do?

By Jessica Pace


Many women had to ask themselves some pressing questions when actress, director and humanitarian Angelina Jolie announced last month that she had undergone a double mastectomy after discovering that she carries a gene mutation known as BRCA1.

For one thing, what are BRCA mutations? And do I have them? And even more importantly, how far will I go to prevent breast cancer?

Angelina JolieBRCA1 and BRCA2 are genetic mutations that put female carriers at a high risk for breast and ovarian cancer. They’re identified through a blood test or Buccal sample, which is another name for DNA extraction through a cheek swab. Compared to most women who are at about 12% risk, women who carry the mutation have approximately a 65 percent chance of developing breast and/or ovarian cancer, and some carriers have an even higher risk.

“Every female has this gene in the breast tissue; it’s normal. Between 1 in 400 and 1 in 800 carry the mutated gene in the general population. If you have the defective gene, you have between a 50 and 85 percent chance of developing breast cancer,” says Nancy Simpkins, a Board Certified internist with a focus on women’s health affiliated with St. Barnabas Medical Center in Livingston, NJ.

BRCA1 is the cause of about 5 to 10 percent of breast cancer in white women in the U.S., while BRCA2 causes about 10 to 15 percent of ovarian cancers in white women in the U.S. It is not known how common the mutation is in other racial and ethnic groups. While it is more common to carry a BRCA1 mutation than a BRCA2 mutation, individuals can carry either one or both.

Jolie’s particular situation was a unique one that she decided to share in an op-ed piece in The New York Times. As she stated in the article, Jolie’s mother passed away in 2007 at age 56 after a decade of battling cancer. Upon discovering that, as a carrier of the defective gene, she was at an 87 percent risk of developing breast cancer and at 50 percent risk of developing ovarian cancer, Jolie opted for a double mastectomy.
Jolie and her Mother
She underwent a series of surgeries at Pink Lotus Breast Center in Los Angeles, a process which took 3 months. Please check out this very clear and complete description of Angelina’s treatment, written by her doctor, and what her options were, and what your’s might be if you test positive for the gene are detailed here:

Now, Jolie’s odds of developing breast cancer have dropped from 87% to 5%.

Pink Lotus Breast Cancer CenterAs someone with a strong philanthropic presence, Jolie shared her medical decision so that others could be informed. Actor husband Brad Pitt talked to USA Today about Jolie’s decision to go public with her mastectomy, “It was really important to her to share the story so that others would understand it doesn’t have to be a scary thing. In fact, it can be an empowering thing and something that makes you stronger and us stronger.”

Jolie is not the first celebrity who has taken these preventative measures - Christina Applegate and Sharon Osbourne are also BRCA gene carriers who underwent mastectomies. The situation they faced is one that thousands of other women face - the American Cancer Society estimates there will be  232,340 new cases of invasive breast cancer in U.S. women for 2013. And certainly, Jolie’s celebrity status has attracted the attention of many women who might never have even considered whether or not they have the gene, much less whether they should get a mastectomy as a preemptive measure.

The cost of the BRCA1 and BRCA2 test (they are both done at once) is about $3,000, which insurance may or may not cover. Why is it so expensive?

Dr. Nancy SimpkinsDr. Simpkins explains, “That’s another big public health campaign now, and all of these types of stories will help change it. Right now, there are only certain labs in the country that do this testing. It’s pretty intricate. It takes weeks. They have to culture it, study it, separate it. This testing is not so readily available,”

Because of the intricacy of the test and the price, it is not recommended for all women.

Women who should consider testing includes women who are over 50, have had ovarian cancer, have a family history of breast and/or ovarian cancer or have close relatives with breast cancer, particularly if it developed before the relative turned 50. Ashkenazi Jewish women, who are at high risk of developing breast cancer according to Jews Against Cancer of the Breast (JACOB) and men with breast cancer should consider testing as well.

There are a number of reasons why a woman may decide to get tested. But the challenging bit is what she will decide to do if she does, in fact, carry the mutation. Some cancer-free women, and even women without defective BRCA genes, consider mastectomies anyway, as a preemptive measure to avoid breast cancer.

Angelina, Brad and their children“It’s a woman’s biggest fear. People have a far greater fear of developing breast cancer than heart disease. There is some trepidation when they go for a mammogram, and some women say, ‘Maybe I should think of doing a mastectomy.’ Remember, It’s major surgery, and if the benefit does not outweigh the risk of surgery, and without a gene mutation or family history of cancer, I would use most of my medical power to advise against it,” Dr. Simpkins says.

The notion of removing body parts to avoid a disease that may or may not develop is disturbing. So if you do know you carry the defective gene, what would you do? More specifically, how high would the risk have to be in order for you to take the plunge? Would you rather battle cancer when and if it ever develops, or reduce, at great cost in terms of risk and cash,, the possibility of it ever happening?

Dr. Simpkins says it varies from situation to situation, and that the presence of a defective BRCA gene isn’t necessarily cause to immediately undergo a mastectomy.

Angelina Jolie“Let’s say a 40-year-old woman tests positive for the mutation, but has a completely normal mammogram, and she has parents over 70 who’ve never had cancer. In that case, it would probably be more of a watch and wait situation,” Simpkins says.

She adds, “Moreover, a mastectomy is considered elective if the person does not have breast cancer already, and that’s the whole thing, insurance will not cover it. For Angelina, she’s cancer free, she has no diagnosis, only a family history and a postiive gene test. A lot of people have issues now, and this will be the future - paying for gene testing, paying for reconstruction yourself.”

In addition, there are a multitude of surgical options women need to explore when contemplating a mastectomy, which is why Search, Share, Spare was launched on May 15, 2013, just a few weeks ago. The campaign, sponsored by medical device company Invuity, is to inform women about their breast cancer surgery options.

For more information on BRCA1 and BRCA2 mutations, including other types of cancer they may increase the risk of, visit / Issue 147 - September 2018
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