Jolie’s Decision Sheds Light on BRCA Gene, Importance of Genetic Counseling

BY Betty Ann Bowser  May 14, 2013 at 5:14 PM EST

Angelina Jolie announced that she has undergone a double mastectomy after she learned she was strongly predisposed to developing breast cancer and ovarian cancer. Photo by Oli Scarff/Getty Images

The news went viral right away.

Movie star Angelina Jolie announced Tuesday she has undergone a double preventative mastectomy. Jolie’s mother died from breast cancer at age 56. She inherited the same gene, called BRCA1, which her mom had. Her doctors said that gave her a very good chance of developing breast and possibly ovarian cancer as well.

In an op-ed piece in the New York Times, titled “My Medical Choice”, Jolie described the procedures she underwent in graphic detail saying that at one point it “does feel like a scene out of a science fiction film.”

The op-ed is striking in its honesty and bravery coming from a woman whose body has been celebrated all over the world, a woman who once was shown on the cover of a magazine joyfully breast feeding one of her newborn twins.

Jolie said she does not “feel any less of a woman” since having her breasts removed and urged women everywhere to be vigilant about assessing their risk for the disease.

According to the American Cancer Society, an estimated 5 to 10 percent of breast cancer cases result from inherited mutations, including those in the breast cancer susceptibility genes BRCA1 and BRCA2. These mutations are present in far less than 1 percent of the general population. Women with BRCA1 mutations, like Jolie’s, are estimated to have a 44 to 78 percent risk for developing breast cancer by age 70, though Jolie’s doctors estimated that she had an 87 percent risk of breast cancer and a 50 percent risk of ovarian cancer.

The 37-year old actress is not the first celebrity to go public with having had a double mastectomy. Actress Christina Applegate, Sharon Osbourne and a recent contestant in the Miss America Pageant have all spoken about their experiences.

But in this case, as one of the most famous women in the world, Jolie brings a new dimension to public understanding of breast cancer — and its prevention — which still kills more than 450,000 women around the world each year.

We wondered what experts in the breast cancer field were thinking about all of this today.

We talked with one of them, the President of the American Society of Clinical Oncology, Dr. Sandra Swain.



Betty Ann Bowser: Dr. Swain what did you think when you heard the news early this morning that a star of the magnitude of Angelina Jolie had undergone a preventative double mastectomy?

Dr. Sandra Swain, ASCO President: I was really surprised because obviously I had no idea, like everyone else in the country. But I have to say the way she has handled it I think is a great model for everyone because she’s really done it so carefully, done it thoughtfully and she’s speaking out which will really help a lot of other women.

Betty Ann Bowser: Explain what it is about the gene that she has inherited and why it’s so devastating.

Dr. Sandra Swain: She inherited the BRCA gene, which is abnormal. We all have those genes, but this one was abnormal or what we call “mutated,” making it likely for her to get both a breast cancer and ovarian cancer. The reason it’s so difficult is because there’s really no treatment for it, so to get the best outcome, what needed to be done was she had to have her breasts removed.

Betty Ann Bowser: If a celebrity makes the decision to go public like this and has handled it the way she has, what good does that do in terms of public awareness? I don’t think most people know about the BRCA gene unless a doctor has told them they inherited it.

Dr. Sandra Swain: I think what’s most important is that women be very thoughtful about it. If you have a mother who’s 70 and has breast cancer, that doesn’t mean you have a likelihood of having a BRCA gene. If a woman’s relative is younger when they get breast cancer, that’s usually in a mother or sister, a first degree relative, then the woman herself would have a higher likelihood of having this breast cancer gene that’s abnormal. So I think the key message is that we all need to be vigilant, but it’s not everyone that has a relative that has breast cancer that’s going to give you this gene.

Betty Ann Bowser: And that’s important for people to understand?

Dr. Sandra Swain: It’s very important. She did it very thoughtfully. She knew about the history of her mother and from what she said she talked to physicians. She had genetic counseling, which I think is extremely important for that to be done. And I personally don’t order these gene tests myself, I refer all women that I think have a likelihood of having it … to a genetic counselor. I’m at the Washington Cancer Institute at Medstar Washington Hospital Center and we have a genetic counselor that works with us. There’s one at Georgetown. So always refer to this person and let that person take a very good (look at) family history and decide whether the gene testing should be done.

Betty Ann Bowser: In related news today, CNN anchor Zoraida Sambolin announced that she has also decided to have a double mastectomy. Unlike Jolie, she has been diagnosed with breast cancer. We do not know if she has the BRCA gene, but when is opting for a double mastectomy a good decision if, say, it doesn’t have anything to do with genetic predisposition?

Dr. Sandra Swain: If the woman doesn’t have the breast cancer gene, the BRCA gene, then the decision to have both breasts removed is really a personal one and we don’t usually recommend that because there’s really no reason to do it based on the cancer that you have. There is some increased likelihood of having breast cancer in that second breast, but it usually can be picked up with imaging with mammography or MRI. So we usually don’t recommend that the second breast be removed without a genetic predisposition.

Betty Ann Bowser: I’m sure that almost any woman that faces this decision is also asking the question, “What are the chances that I will look like myself again with reconstructive surgery?” What are the options most people have with that?

Dr. Sandra Swain: I heard that Angelina Jolie chose the implants, and now the implants are usually silicone, which feel much more like normal tissue. Some women choose saline implants. So those are available. There’s also actually your own tissue, using the fat around the stomach area or some muscles in the back, those kinds of reconstructions. So there’re lots of options for reconstruction and they really look very, very good.

Betty Ann Bowser: Where do we stand today in terms of breast cancer as opposed to where we stood with it as a cancer, say 50 years ago?

Dr. Sandra Swain: We’ve seen definite decrease in mortality from breast cancer, that’s very clear over the past few years. We’ve made great advances as far as that’s concerned and we think a lot of that’s due to screening, picking up early cancers, and also the fact that our treatments are very good. Our hormonal treatments and chemotherapy treatments are very good. So we’ve made great advances. We have the huge advance in targeted therapy with herceptin or trastuzumab (two breast cancer therapies), which has really changed the whole outcome for patients who have this HER2 gene (HER2-positive breast cancers tend to be more aggressive than other types of breast cancer) in their tumors.

Betty Ann Bowser: Is there anything else you think the public should know?

Dr. Sandra Swain: Well I think over the past 25 or 30 years, so much has changed over breast cancer and I think having someone like Angelina Jolie speak out on something so personal — so potentially devastating and freighting and scary — is incredibly important because so many people can relate to the emotions and things she’s gone through. I just think it’s wonderful that she did it and the way she did it, and, again, the thoughtfulness of it. She talked to the genetic counselor and took her time to make the decision. This was really important for everyone to see.


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