In May 2013, well known actress and humanitarian, Angelina Jolie, went public with her decision to have a prophylactic double mastectomy in order to reduce her risk of developing breast cancer. Her decision created worldwide interest and debate around genetic breast cancers.
In March 2015, she again hit the headlines with her next major health decision. This time, she had surgery to remove both her fallopian tubes and her ovaries. This was intended to reduce her additional risk of ovarian cancer.
Angelina has lost her mother, grandmother and an aunt to cancer. After a blood test showed that she carried a faulty BRCA1 gene, doctors estimated her risk of breast cancer to be 87% and her risk of ovarian cancer to be 50%.
This is an excerpt from her official statement published in the New York Times:
“It is not easy to make these decisions. But it is possible to take control and tackle head-on any health issue. You can seek advice, learn about the options and make choices that are right for you. Knowledge is power.”
By going public with her experience, Angelina Jolie has done more for public awareness of breast cancer than any other previous breast cancer awareness drives. If one reads her complete statement, it is apparent that Angelina’s decision was extremely emotional and difficult, driven by her desire to be around, for her husband and children, for as long as possible.
Her situation is not unique. There are many other women and families who face the prospect of similar tough decisions.
In South Africa, 5-15% of ovarian and breast cancers are genetic. This means that in most women, if they have these cancers, they are not going to be carrying the BRCA1 or BRCA2 faulty cancer gene.
BRCA (Breast cancer susceptibility gene) 1 and 2 are genes that we all have. When they are normal they produce tumour suppressor proteins that help to repair DNA damage in cells and so maintain cellular stability. When either of these genes are mutated, or have changed, they are faulty and DNA damage may then not be repaired properly. Cancer can be the end result. Breast and ovarian cancers associated with BRCA1 and BRCA2 mutations tend to develop at a young age.
A women’s lifetime risk of developing breast and ovarian cancer is greatly increased if she inherits a harmful BRCA1 or BRCA2 mutation. With breast cancer, according to the most recent estimates, 55-65% of women with BRCA1 mutations will develop breast cancer. On the other hand, 45% of women with a harmful BRCA2 mutation will develop breast cancer. By contrast, with ovarian cancer, 39% of women with BRCA1 mutations and 17% of women with BRCA2 mutations will get ovarian cancer. It is important to note that these risks are different to information previously available and may change again as new research findings are published.
I chose not to keep my story private because there are many women who do not know that they might be living under the shadow of cancer. It is my hope that they, too, will be able to get gene tested and that if they have a high risk, they too, will know that they have strong options.
It is also important to note that other factors will play a role in ultimately determining a person’s risk. These factors include:
1. family history of breast/ovarian cancer.
2. specific inherited alterations/mutations with BRCA genes.
3. reproductive history.
However, based on current research, none of these factors seem to be as strong as the effect of carrying a harmful BRCA1 and 2 mutation.
Locally, blood tests are available through private and government hospitals to check for BRCA mutations. The sample is sent to a central laboratory and in certain cases overseas to be tested. It usually takes a month to get a result. The estimated cost is about R10 000.
Because BRCA1 and BRCA2 mutations are not common in the general population, it is not recommended that all women be routinely tested. When the following factors are present, testing is offered:
• Breast cancer diagnosed before age 50
• Cancer in both breasts in the same woman
• Both breast and ovarian cancer in either the same woman or the same family
• Multiple breast cancers
• Cases of male breast cancers
• Ashkanazi Jewish ethnicity
Testing should always be the done only after proper genetic counselling. Counselling should be performed by a healthcare professional who is experienced in cancer genetics. Professional societies do not recommend that children, even those with a family history of BRCA1 and BRCA2 mutations undergo genetic testing for the mutations. This is because no risk reduction strategies exist for children and children’s risks of developing a cancer associated with this mutation are extremely low. After these children become adults, however, they may want to obtain genetic counselling themselves about whether to undergo genetic testing or not.
By having a mastectomy, Angelina dropped her lifetime risk of breast cancer from 87% to under 5%. She then opted for regular screening and tests to reduce her risk of ovarian cancer. This she did for 2 years, until she had a scare of a positive result. That is when she chose to undergo surgery to remove her fallopian tubes and ovaries.
“In my case, the Eastern and Western doctors I met agreed that surgery to remove my tubes and ovaries was the best option, because on top of the BRCA gene, three women in my family have died from cancer. My doctors indicated I should have preventive surgery about a decade before the earliest onset of cancer in my female relatives. My mother’s ovarian cancer was diagnosed when she was 49. I’m 39.
Last week, I had the procedure: a laparoscopic bilateral salpingo-oophorectomy. There was a small benign tumor on one ovary, but no signs of cancer in any of the tissues.
I have a little clear patch that contains bio-identical estrogen. A progesterone IUD was inserted in my uterus. It will help me maintain a hormonal balance, but more important it will help prevent uterine cancer. I chose to keep my uterus because cancer in that location is not part of my family.”
Angelina chose to take Hormone Replacement Therapy even though this has been associated with an increased risk of breast cancer. This is a classical example of how a decision like this is extremely personal and is individualised according to each person. When a woman undergoes surgery to remove both ovaries, menopause is the result. Hot flushes, mood swings, weight gain and premature aging occurs shortly thereafter. These are often severe and debilitating. Of concern, also is the earlier onset of elevated cholesterol levels, cardiovascular disease, bone loss and osteoporosis and premature death . So if this surgery is performed in a woman under the age of 45, it is recommended that she take low dose Hormone Replacement Therapy.
“Regardless of the hormone replacements I’m taking, I am now in menopause. I will not be able to have any more children, and I expect some physical changes. But I feel at ease with whatever will come, not because I am strong but because this is a part of life. It is nothing to be feared.”
“It is not possible to remove all risk, and the fact is I remain prone to cancer. I will look for natural ways to strengthen my immune system. I feel feminine, and grounded in the choices I am making for myself and my family. I know my children will never have to say, “Mom died of ovarian cancer.”