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Angelina Jolie, BRCA Testing, and You

The extremely talented actress and director Angelina Jolie made world news last May when she revealed in a New York Times op-ed that she’d taken the proactive step of having both breasts removed to prevent dying of breast cancer, as her own mother had at age 56.

Jolie had learned that she had a specific, inherited genetic defect that markedly increased her risk of breast and ovarian cancer. She had young children and a loving, supportive partner and wanted everyone to grow up and grow older together. She didn’t want to be the missing grandmother, as her own mother had been.

As you remember from high school biology, we get our genes from each of our parents.  BRCA genes, when operating correctly, are among the many systems in our body that actually protect us from certain cancers. However, when they contain small abnormalities, also inherited, the gene loses its protective ability and risks for certain cancers skyrocket. These abnormalities are called SNPs (single nucleotide polymorphisms, pronounced “SNIPS”), and a woman can inherit about 77 of them. The wrong combination of SNPs–making the BRCA gene a defective one–spells trouble.

Physicians told Jolie she had an 87% risk of developing breast cancer. It’s the BRCA 1 and 2 genes that we know most about and, as in Jolie’s situation, can actually do something about. Yes, there are other SNPs related to other cancers, but since we can’t, for example, prophylactically remove our pancreases, all we can do is live our lives as healthfully as possible with the standard preventive techniques.

As a side note, we do know that low vitamin D levels are associated with increased breast and prostate cancer risks. It’s now believed that vitamin D really shouldn’t be thought of as just a vitamin, but rather as a unique molecule that acts by getting our genes to function better, protecting us from these cancers.

A major breakthrough in genetic disease testing occurred in early 2013
The US Supreme Court ruled against a company called Myriad Genetics, saying their discovery of the BRCA genes could not be patented. Before the ruling, Myriad had created a genetic testing monopoly and made the tests unaffordable to most Americans without the incomes of Angie and Brad. You can read the transcript of a PBS report on this decision here.

Obviously, other genetic testing companies were on tenterhooks awaiting this decision. At WholeHealth Chicago, we’ve partnered with Ambry Genetics to offer BRCA testing to our patients. But please keep three important facts in mind before you consider BRCA testing:

  • Just 5% of breast cancers are BRCA-related. This means that while women coming from high-risk families require special testing, proactive decision-making, and regular follow-ups with their doctors, all women need to continue to follow the recommended mammogram guidelines.
  • When a woman from a high-risk family tests negative for the BRCA mutation, her super-high risk drops precipitously, but she’s not off the hook altogether. She still needs regular mammograms.
  • Not all women need BRCA testing. Testing is really only for women (and men) with two or more blood relatives who have had breast and/or ovarian and/or aggressive prostate cancers. Although the price of BRCA testing has plummeted since the Supreme Court decision, insurance companies are very specific regarding who they’ll cover and who they won’t. If you answer yes to any of the questions on page 4 of this link, talk to your physician about getting tested.

If you’re a WholeHealth Chicago patient and feel you’re eligible for BRCA testing, call and schedule a “lab only.” The test itself is a simple blood draw, which we’ll send to Ambry Genetics. We’ll also complete the required forms stating why we think you’re eligible for the test. Ambry will bill your health insurer directly. They’ve assured us that if your insurance covers genetic testing (most policies do these days) they will accept your insurer’s reimbursement rate and that your maximum out-of-pocket expense will be about $100.

Although I personally haven’t been thrilled with Supreme Court decisions during the past few years, this one, which broke up the Myriad Genetics stranglehold, is simply wonderful for women.

If you do test positive for BRCA, unless you have a medical center you’ve worked with in the past, we’ll refer you to the Inherited Susceptibility to Cancer Center at Rush University.

We’ll also recommend an appointment or two with one of our nutritionists so you can learn about healthful eating and breast cancer prevention.

Be well,
David Edelberg, MD


Leave a Comment

  1. MS says:

    Thank you for this.

    Let me just add that many of us have only one living blood relative who knows (or knew) for certain that they have one of these cancers. I had two grandmothers die of breast cancers (or complications thereof), but die before they could have developed ovarian cancer, and a maternal aunt who ultimately died of ovarian cancer after surviving BC. My mother did prophylactic surgery based on her sister and mother’s cancers and decided against genetic testing when it became available.

    The genetic counselor I saw told me that I didn’t really *need* to get tested based on the nifty family tree she drew. I shook my head and gave my blood. I’m positive for a BRCA1 mutation and am ten years post risk-reduction surgeries. Insurance paid for everything in my case.

    Also, Dr. E, I’d be curious to see the research supporting the idea that nutritional changes reduce BC and OC risks in BRCA1 and 2 mutated women. My understanding (ten years ago) was that it wasn’t effective, but that those recommendations were helpful for the general population for reducing their risks.

    Check out facingourrisk.org for loads of information and support.

    Thank you for writing about this!

  2. Margo Milde says:

    It should be noted that BRCA1 and BRCA2 mutations are autosomal dominant, meaning, the offspring (male or female) can inherit them from either side of the family, with 50% risk of inheritance should either parent carry the mutation. There are still genetically ignorant doctors out there who believe that — if a woman only has breast cancer family history on the father’s side of — there is no increased risk; that supposition is incorrect. Likewise, the affected (carrying the mutation) offspring has a 50% probability of passing the mutation on to each offspring (both males and females), as well. There are added health risks for males who have a BRCA mutation, such as increased risk of breast cancer, that shouldn’t be ignored.

    Also, there are a number of BRCA mutations associated with increased cancer risk that have been identified (at least in the dozens), with varying levels of penetrance, and scientists are just sorting out what increased risk each has for breast cancer and/or ovarian cancer. The several most studied BRCA1 and BRCA2 mutations are those appearing in people of Ashkenazi Jewish (eastern European) descent, and exact risks for these more studied mutations may or may not be applicable to individuals with one of the many lesser-studied BRCA mutations, who may face significantly higher or lower risks based upon their own mutation. A comprehensive family history if available can shed some light on personal risks, as well.

    In addition, if a woman does test positive for the mutation, many conventional doctors will strongly encourage her to have not only prophylactic mastectomies, but prophylactic oophorectomies as well, the latter having significant permanent health effects. Should she refuse one or both surgeries, she may find it difficult to find a conventional doctor who will treat her in his/her practice, since she will be considered high risk (and non-compliant, at that).

    Additionally, while there is a federal law (Genetic Information Non-discrimination Act of 2008) preventing discrimination based upon genetic status for employment (only for employers with more than 15 employees) and health (but not life or disability) insurance, and HIPPA is supposed to be protecting our medical records, there are still privacy issues that might need to be considered before being tested.

    Finally, testing positive for a BRCA mutation can have a major impact on a woman’s self-image (no matter if she does or does not choose to undergo prophylactic surgeries), decisions to have children, as well damage the woman’s relationships with relatives (who may not want to know themselves) and “significant others”. All in all, it should never be a snap decision to make, even if relatively inexpensive, and women may wish to discuss their options with a genetic counselor even before being tested.

  3. Dr E says:

    Hi Margo
    Thanks very much for your very interesting and important input

  4. Elizabeth Wolszon says:

    Thanks for this educational message on a very important topic. I work as a volunteer for a nonprofit that funds research and education on ovarian cancer (Project Hope). Angelina J. also said she plans to have her ovaries removed. It would be great if you could cover ovarian cancer risk factors, including a much higher risk for European Jewish women. I’m shocked by what I hear from doctors in Project Hope board meetings. They talk about the difficulties of getting doctors to talk with patients about this. Angie going public is a really great thing to get the conversation going.

  5. Margaret Williamson says:

    I take blond psyllium (2 t.b. psyllium daily) daily for constipation. I am due to have surgery in 7 days. I read that I should stop taking psyllium because it might affect blond sugar levels. What is a recommended substitute for constipation?

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