Beyond The Angelina Jolie Media Frenzy: Facts About BRCA
Fri, 05/17/2013
Jane Herman
Jane Herman

Kudos to Angelina Jolie for revealing her BRCA status to the world and for undergoing a prophylactic bilateral mastectomy that may well have saved her life.  With that one op-ed, she single-handedly did more to promote awareness about BRCA gene mutations than all her BRCA buddies—myself included—could collectively do in a lifetime.

I’m not quite so appreciative, however, of the media frenzy that has surrounded Jolie’s announcement.  Despite seemingly endless coverage (she is, after all, Angelina Jolie), the dearth of information about the nuances of these mutations and the associated cancer risks is exceedingly disconcerting--especially to those of us who have based our own healthcare and surgical decisions on these very nuances.

With that in mind, I offer you these BRCA basics:

1. Every human being has BRCA (an acronym for BReastCAncer) genes.  Healthy BRCA genes—without mutations—function as tumor suppressors, helping the body fight off rapid and unregulated cell growth.  Women with a mutation in one of their BRCA genes have a significant risk of developing breast and/or ovarian cancer within their lifetime—often at an earlier age than those in the general population.  BRCA+ men are at increased risk of developing breast and prostate cancer.  Like women, men can inherit a mutated gene from their father or their mother and, also like women, there is a 50% chance they’ll pass the mutation along to their children—both sons and daughters.

2. Although a woman’s risk of developing breast and/or ovarian cancer varies based on her personal family history and the specific gene mutation she carries (there are hundreds of different BRCA mutations), the risk of breast cancer can be as high as 87% (vs.12% in the general population) and as high as 50% (vs.1.5% in the general population) for ovarian cancer.

3. BRCA mutations also are associated with increased risk of pancreatic cancer and melanoma, as well as with fallopian tube and primary peritoneal cancer (cancer in the lining of the abdomen).

4. Unlike some genetic diseases, such as Tay Sachs, in which individuals must inherit two “recessive” genes—one from their mother (who is a carrier) and one from their father (who also is a carrier)—in order to develop a particular disease, BRCA gene mutations are “dominant.”   Inheriting just one BRCA gene mutation puts an individual at increased risk of developing cancer at some point during his or her lifetime.

5. Some people with BRCA mutations will never develop cancer—some because of luck of the draw and others because they elect to take chemoprevention drugs or to have prophylactic surgeries to remove their breasts and/or ovaries, greatly minimizing their risks. For those who do develop cancer, it can often be detected early because of the increased surveillance these individuals undertake.

6. At a rate of approximately one in 500-800, the prevalence of BRCA mutations in the general population is exceedingly rare.  Within the Ashkenazi Jewish population, approximately one in every 40 people (2.5% of the population) is a carrier, and most carriers are not aware of their BRCA status.

7. Approximately ninety to 95% of breast cancers are “sporadic” and are not caused by BRCA mutations. Likewise, 85% to 95% of ovarian cancers are not caused by BRCA mutations.

8. BRCA testing is not appropriate for broad use within the general population and should only be undertaken in consultation with a genetic counselor, a professional trained to assess individuals’ personal cancer risks based on numerous factors, and to help determine appropriate risk management strategies. The National Society of Genetic Counselors can help you find genetic professionals in your area.

9. It is important to know the possible signs of hereditary cancers, which include a family member with: ovarian or fallopian tube cancer at any age, breast cancer before age 50, breast cancer in both breasts at any age, both breast and ovarian cancer, triple negative breast cancer, or male breast cancer.

10. Other signs of hereditary breast cancer include more than one relative on the same side of the family   with any of these cancers: breast cancer, ovarian or fallopian tube cancer, prostate cancer, or pancreatic cancer.

As Jolie rightly points out, women have options when it comes to managing their BRCA risks.  Like her, I was empowered to make risk management choices that were appropriate for me, but not before I had fully educated myself about my own BRCA status and the specific choices available to me.  Also like Jolie, I am exceedingly satisfied with my decisions and the fact that the threat of neither breast nor ovarian cancer still hangs over me. Nonetheless, even now, nearly two years after my mastectomy, physical and emotional scars remain.  And, although they fade a little bit each day, I’m not sure they’ll ever disappear completely.

For more information about hereditary breast and ovarian cancer, contact Facing Our Risk of Cancer Empowered (FORCE), a national non-profit organization solely devoted to providing resources and support to the hereditary cancer community.

Jane E. Herman is the executive writer and editor at the Union for Reform Judaism.  After losing her mother to breast cancer in 2010, she tested positive for a BRCA2 gene mutation and has since had prophylactic surgeries to remove her breasts and ovaries, a decision she believes saved her life.

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I would suggest that anyone who is seeking a truly knowledgeable resource try the FORCE website http://www.facingourrisk.org They do not advocate for any particular response to a BRCA positive test. However, with one in 40 Jewish women being diagnosed with the BRCA mutation, they do offer forums and information on what these figures mean and what choices are out there, whether one opts for surveillance or surgery. That being said, I sincerely resent those who imply that any of us who made choices for pre-emptive surgery have wantonly lopped off parts of our body. As someone who watched the people closest to me die painful premature deaths, you have absolutely no right to judge my decisions or, for that matter, Ms. Jolie's. Believe me, if I had thought there was any other reasonable option I would not have opted for surgical menopause and loss of so much that I cannot hope to encompass in an e-mail comment. As for those who discuss this as a money-making device for surgeons, you have no clue. A surgeon can make far more by waiting for a woman to get cancer and then doing multiple surgeries and reconstructions as cancer spreads and radiation/chemo destroys tissue and invades surrounding areas. Sadly, for many women who prefer the ostrich approach that some of you advocate, this is exactly the case. When weighing the societal costs of carefully considered testing, genetic counseling and preventative surgery vs. what my loved ones went through, i.e. successive rounds of cancer diagnosis, chemotherapy/radiation, surgery , followed by premature death due to aggressive multi-site cancer, the former response is less costly in all ways. BTW, no matter how brilliant anyone's friends may be, I would not base life-altering medical decisions on the opinions of a rocket scientist, a biochemist, or for that matter, an actress. Brilliant people can also be ignorant when they are outside their realm of expertise.

Bravo...and thank you!

I have no intention of even being tested, for reasons including many already mentioned above, despite knowing that at least one such mutation runs in my father's family, and having a strong family history of cancer, including both parents and three of four grandparents dying of one form of it or another (with my mother having also had breast cancer earlier on), and my mother's sister also a survivor of yet another form.

I think the idea of lopping off perfectly healthy body parts to "prevent" a problem that proper routine screening and attention to one's health should uncover early is insane, especially a potential problem that is in no way certain to develop without such surgery.

I won't have the testing because what else on earth could be done to try to avoid getting cancer that we're not already supposed to be doing, like eating right, generally taking care of our health, exercising, etc.?

And why should I even open the door to the possibility of the kind of fatalism that can easily result from knowing that one has such a mutation? Especially knowing that such fatalism can lower one's immune system function - which in turn can open the door to a cancer that might not otherwise have developed.

I understand and respect that others might feel better knowing, and even taking such drastic, unproven steps, but I also find it appalling on many levels that anyone should be held up as a "hero" for making the choice to have this surgery.

Just go live your lives, people. Take care of yourselves the way you know you should, get your regular mammograms, pap smears, prostate exams, etc. Know your body, and go see a doctor quickly if you notice a change; have regular exams. Heck, have *extra* exams, for that matter. But for heaven's sake, hold onto the body parts the good lord gave you until there's an actual *reason* (as in actual illness, or real proof that doing otherwise will actually matter) to part with them.

The steps that Jolie took are not "unproven". Prophylactic mastectomy results in a dramatic reduction in incidence of breast cancer among mutation carriers. They go from a risk of approximately 50 - 87% to a residual risk of 2% - 4% of breast cancer. They seems like pretty good "proof" to me. Your comments betray ignorance.

As I noted in my piece, women have many options with regard to dealing with BRCA mutations. Having watched such a mutation--that she didn't even know she had--kill my mother in seven weeks time, I saw reason enough to take action once I knew I carried the same genetic defect. I do not consider myself, Angelina Jolie or anyone else a hero for choosing prophylactic surgery. As you suggest, we are just trying to live our lives. Please do not judge us for our actions.

A superb article on the types of reconstruction and the varied complexities and problems with each. Best article I've seen on the subject. This is must reading for any woman considering reconstruction, were she to lose her breast(s). Or considering a prophylactic double mastectomy
A version of this article appeared 5/21 in print edition on page D1 of the New York edition of the NYT under the title "NO QUICK OR EASY CHOICES".

This article is extremely thorough and detailed.

http://well.blogs.nytimes.com/2013/05/20/no-easy-choices-on-breast-reconstruction/?src=me&ref=general

For more information about hereditary breast and ovarian cancer in the Ashkenazi Jewish community, including a 25-minute Webinar presented by Dr. Susan Klugman, director of reproductive genetics at Monterfiore Medical Center and the Albert Einstein College of Medicine, visit the GeneSights Jewish Genetics Online Educational Series at www.genesights.com. GeneSights is presented by the Program for Jewish Genetic Health of Yeshiva University/Albert Einstein College of Medicine.

I believe that this "media frenzy" can only have a deleterious affect on Jewish women. Everyone has an ob/gyn or just gyn, inconceivable that they have not had mammograms and been advised and questioned re family history, which can be highly deceptive, since a huge percentage of the population dies from one of the listed 'worrisome" cancer deaths, above and beyond the breast and ovaries. This one and that one, on this side or that side, at this age or that age. thank you so much Myriad, your tests cost a major fortune, and your ability to prognosticate what kind of cancer, and the percentages, is dubious. A very good friend in the pharma business, i.e. PH.D in biochemistery, university professor, in M & A tells me that the risk for BC if positive is somewhere between 30-80 some odd percent. Not the flat 87% rate quoted. He is the smartest guy in the room.
Now, 30% sounds like a large number (and he thinks it is) but compared to the one in 8, well, it gives one some pause. Only very affluent women can afford this test, and they are most likely to have skilled physicians (ob/gyn's) who, if they are Jewish would surely have asked re family history. Do you know what percentage of total BRCA MUTATIONS are found in non-Ashkenazi Jewish women? i.e. the Jolie's of this world? Also, when was it that she had the surgery, I think one article said in February? and her doctors for some reason did not want to disclose when she first did the genetic tests.

Jane,
i lost a long response to you as i went to edit it, so i will be concise, i do not want you to think I am cavalier about the subject of BC in general, or the ramificationss of being a carrier. I do hapen as a layman to know a huge amount about breast cancer. That would have been explained in the msg i lost. So I will just mention the poitical/market aspects now, and the timing of this revelation. I am extremely disturbed over the media coverage of Jolie, as if she is a heroine, they are lionizing her. I seriously wonder about the timing of her revelation, I think the surgery was a few months ago, and her doctors, for some reason declined to reveal when she had the genetic testing. That being said, Myriad Genetics is currently in a legal battle, which will evidently be a precedent setting one. The question is whether a company can "own" a gene sequence. There are many ramifications. If they lose the case, their stock will be decimated. My pharma expert friend sold his long term shares about a week ago, with huge doubts whether they will win the legal battle. The timing of Jolie's revelation was, if you don't mind my offering my opinion , as a stokc market person, ideal to provide a huge pop (increase) in the stock price of MYGN, ideal for large institutions to sell into and get out at a higher price. The stock will be decimated if they lose.
Now, that does not invalidate the usefulness of these tests.
I overwhelmingly believe that the timing of her bombshell was manipulated, to help large institutions and hedge funds to sell, buy/sell options.
The average Jane is not as informed as you are, and is unlikely to be in the future. One would be hard pressed to find a breast surgeon (except my saint of a surgeon, maybe you know him), who would turn down the chance to exert pressure ona BRCA positive patient, it's a win win for the surgeon, he is not doing anything unethical (except perhaps not doing the maximum to make sure the patient was an "educated consumer". Double mastectomies, ovariasn removal (pancreatic removal, peritoneal wall removal, fallopian tube removal, all with increased incidence). OK, I am overexaggerating to make my point. Long after this passes, and no matter what the court decision, many women will have JOLIE in their heads as a role model. Your friends were not exposed to this kind of media blast, plus it is evident that you are knowledgable and with so many BRCA carrier acquaintance, probably involved with a HOTLINE/ Support Group such as the one at Adephi University.

Jane Doe in two years, will think only of how brave and smart A. Jolie was. That is my issue, I am not highly educated re the BRCA genes, outside of knowing my negative status, but I know an enormous amount about breast cancer. (references available upon request, LOL).
I am annoyed that I did not type this on notepad first, I did have more to say, yes, you are lucky , long posts are my trademark, but not usually on this topic.

http://www.activistpost.com/2013/05/did-angelina-jolie-make-mistake-by.html

Thank you for such a excellent commentary but I just wanted to add a few things. Brca is found in 1-300 to 1-400 people. These numbers are increasing as more role are tested. Also I was tested by my ob gyn, and never saw a genetic councilor. I am sure they are wonderful but my ob did a great job explaining to me my options and what her medical society recommended for me to do after my diagnosis. Hopefully more obgyn's and internal medicine physicians will learn to run this test on appropriate people. More lives could be saved. Bless you and your family.

Although it is true that the more people who are tested for BRCA mutations, the more those whose tests are positive can be proactive about their care, busy OB/GYNs and internists generally do not have the time or the appropriate training in cancer genetics to assess individuals' risk based on personal and family history, as well as other factors. In addition, research in this field moves at an incredibly fast pace and it is cancer genetics specialists who can provide the most credible and up-to-date information as it becomes available.

veryone needs to investigate and make their own personal decisions
The article states that women with a BRCA gene mutation have increased risk of pancreatic cancer, melanoma, fallopian tube cancer, and primary peritoneal cancer. What are those percentages, and why not just remove all body parts?
Also, since the discovery of these BRCA gene mutations and current legal patent dispute, I don't know the numbers, but I would guess that most women who discover the mutations will follow Jolie, now a heroine. But the question is, where is the control group of women with the gene mutation, who do not do a double mastectomy nor remove their ovaries. How is this 87% lifetime chance calculated, without a control group.?
While BC is an awful disease, unless it is just DCIS (STAGE 0) , is the the Myriad Genetics test capable of predicting which form of BC it will be? What % will be just DCIS, which is , in most cases, a relatively benign disease. In fact, many surgeons consider it pre-cancer. and no more than 35% ever become invasive. and invasive is NOT metastic. and there are lumpectomies.
I am extremely disturbed that Jolie has now
become a heroine, and that because of her, many women will knee-jerk react into doing the double mastectomy. Panicked operation without a huge amount of research. These are, after all, still healthy women. Are men with early sstage prostate cancer encouraged to get castrated to prevent further progression of their definite cancer. The 87% figure is a crock. THEY CANNOT KNOW. There is no control group, after everyone submits to the double mastectomy.

I am neither a genetic counselor nor a physician, so I cannot begin to answer all of the questions you have posed. However, I can tell you that the Myriad test can only identify whether or not an individual carries a BRCA gene mutation and what is that specific mutation. The test cannot determine whether someone with such a mutation will get cancer nor can it identify what type of cancer a BRCA mutation carrier might get should he or she get cancer.

It has taken dedicated scientists decades of painstaking research to identify the BRCA1 and BRCA2 genes, as well as the hundreds of different mutations that exist on each one. This research continues and with it will come more answers, but in the meantime, it is a long, slow process.

One final point: I know many, many women who are BRCA mutation carriers and not one ever underwent a double mastectomy as a knee-jerk reaction to a BRCA test. It is not a decision that is made lightly, but rather one that is agonizing and takes tremendous thought, consideration, courage, and support.

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