Angelina Jolie’s Decision: Do I Need to be Tested?

As a medical student on the ward you never knew what was coming. We had a sheet saying this young 36 year old woman was being admitted by one of the cancer doctors with a diagnosis of  “wild pupils.” The misinterpretation was funny, but the diagnosis was not: she had mild papilledema – optic nerve swelling from breast cancer that had found its way to her brain. Every medical student wanted to look into her eyes to see this swelling, and sadly we all knew it was her death sentence.

Dr. Block, the professor of Surgery at The University of Chicago was my inspiration to change from a career of research to one of surgery

She was a beautiful, intelligent lady with a great sense of humor who didn’t mind when we medical students poked and prodded her. But she fit the profile of breast cancer with positive genetics.  She had all of the risk factors, she was of Ashkenazi Jewish background, with aunts with breast cancer – all of whom died in their 40’s. Her mother didn’t have it, and was alive and vibrant in her 60’s. She had an identical twin sister who was spared, at least then.  She had developed breast cancer five years before, had a mastectomy with radiation therapy and reconstruction. Now the cancer was back.

We knew about the genetic inheritance of breast cancer in the 1980’s, but we had yet to isolate or even have the ability to test those genes. Since that time we have isolated the genes that are responsible for that, called BRCA 1 and BRCA 2, and we now can test, and like Angelina Jolie, make a decision about what to do.

Being on the ward, I was fascinated by the genetics of cancer, and at that time was thinking of using my background in genetic engineering to work on those sorts of projects.  Instead a gruff professor of surgery, the kind everyone fears, became my mentor – and instead of looking at ways to test for cancer, I became a surgeon, with the only good tool we have for fighting cancer – surgery.

Genetic Testing
Upon hearing about Angelina Jolie’s decision to undergo surgery to avoid her genetic predisposition to breast cancer my wife asked, “Should I be tested? I had a great aunt who had breast cancer.”  I suspect many women wonder the same thing.

Breast cancer happens to 1 in 9 women, which means if you have an extended family you will know someone in your family with breast cancer. It means that some of your friends, colleagues, or acquaintances have or will have breast cancer. It may mean that you will get breast cancer – because it is not just a disease of women, men get it too.

Should I get a test?

BRCA Test kit

Many wonder if they should undergo the testing for the breast cancer genes

If your family had breast cancer that happened to someone before the age of 50, or breast cancer in both breasts, or cancer in male, or are of Ashkenazi Jewish ancestry and have relatives with breast cancer, you should be tested.  There is a specialty of physicians who are geneticists, and you should talk with them. If you do not meet this criteria, then chances are you don’t need to have gentic counseling or have the tests.

With all that breast cancer running around- people think – must be genetic. It isn’t.  Less than 1% of all breast cancers are genetic, and if you happen to have one of the genetic predispositions for cancer, then doing what Angelina Jolie did is a big decision, but it is the most comprehensive decision.  What is important to note is this:

Having a mastectomy is not a guarantee that you won’t get breast cancer. 
While a mastectomy is designed to get rid of all the breast tissue, sometimes people have breast tissue away from their breasts, and that tissue can turn malignant.  It sounds cruel to go through all that and still develop breast cancer.  The good news is that this is exceedingly rare.

There are other options for those who have the cancer gene – but none of those options are as good as the operation.

What are the Breast Cancer Genes?
They are sequences of DNA that code for a protein that regulates the growth of the cells. Everyone has the genes (BRAc1 and BRAC2) – we have two copies of each gene that we inherit from our parents. If those genes have a mutation the risk of cancer increases, but especially the risk of breast and ovarian cancer.

How do we test?
Testing is genetic – which means the test involves looking at the DNA of the BRCA1 and BRCA2 genes.  If there is a mutation then there is an increased risk of cancer.  The test can be done from blood or saliva and takes three weeks to get the results.

How much is the test?
The test costs anywhere from $500 to $4000 depending on the test. Some insurance companies cover the costs of the test if there is a strong family history of cancer.

What if the test is positive?
This does not mean you have cancer – but it does mean you have an increased risk of cancer. It means that you need a consultation with the appropriate physicians to discuss options.

The Sad Reality:
Listening to a radio station yesterday I heard someone propose that Angelina Jolie should have simply waited and had routine breast screening instead. That an early cancer is easily removed and treated.  I wanted to scream at the radio – and I wanted to scream because I was thinking of the women who I’ve treated over the years that had a small cancer, caught early on mammogram and the lymph nodes had no cancer– who later, many years later, had metastatic cancer.

I also thought of Lisa Adams, a twitter buddy (@adamslisa) who writes a blog about her life as a young mother with metastatic breast cancer.  Her cancer was found early, she made the decision to have bilateral mastectomy and have her ovaries removed, and this last year was diagnosed with metastatic breast cancer.   It is for women like Lisa, and many others, that I look at the lack of funding for the National Institutes of Health, and say that Congress is not just making lives inconvenient with the sequester – they are preventing the work from going forward that will lead to better treatments, and maybe even a cure.

Other than surgery, with adjuvant radiation and chemotherapy, we do not have good treatment of breast cancer. We have one good shot. So if the genes are positive, and you were my wife, daughter, relative- I would recommend what Angelina Jolie did.

While we are working hard for a cure, it will be a while before we know if we have one. There have been cases of breast cancer recurring twenty years after the original diagnosis.

Now, some 30 years later, I think back to that lovely young woman who came into the ward with metastatic breast cancer. Had we had the tests back then, and made the decision she would be an older lady now, enjoying grandchildren. I hope Angelina Jolie is able to enjoy her grandchildren.

Dr. Terry Simpson About Dr. Terry Simpson
Dr. Terry Simpson received his undergraduate and graduate degrees from the University of Chicago where he spent several years in the Kovler Viral Oncology laboratories doing genetic engineering. He found he liked people more than petri dishes, and went to medical school. Dr. Simpson, a weight loss surgeon is an advocate of culinary medicine. The first surgeon to become certified in Culinary Medicine, he believes teaching people to improve their health through their food and in their kitchen. On the other side of the world, he has been a leading advocate of changing health care to make it more "relationship based," and his efforts awarded his team the Malcolm Baldrige award for healthcare in 2011 for the NUKA system of care in Alaska and in 2013 Dr Simpson won the National Indian Health Board Area Impact Award. A frequent contributor to media outlets discussing health related topics and advances in medicine, he is also a proud dad, husband, author, cook, and surgeon “in that order.” For media inquiries, please visit www.terrysimpson.com.

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  1. Lynn says:

    Apparently other cancers besides breast cancer are indications that the BRCA mutation is present in a family. In one family of Holocaust survivors where the cause of death of most of the family members was lethal gas or gunshot, a father had colon cancer and his daughter had breast cancer. She tested positive for the mutation, as did her sister who did not have breast cancer. Both had bilateral mastectomies and also had the ovaries removed. I was told when I took the test (mine was negative to the relief of my daughters) that my uncle’s pancreatic cancer could be an indication of BRCA mutations in the family. Other than myself, only one other family member, a cousin, had breast cancer and she died from it. What I am trying to say is that breast, ovarian, prostate, pancreatic, and colon cancers all seem to be related to the BRCA mutation and a father with these cancers could have given his children faulty genes.

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