Angelina Jolie is back in the spotlight lately with the sad news about her divorce to Brad Pitt.
Jolie is no stranger to making headlines. In recent years, she put her celebrity status to work in raising awareness to the underprivileged in her role with the United Nations and breast cancer after her mother dies of the disease and she discovered that she inherited the BRC1 gene and as a result chose to undergo a bilateral mastectomy after learning she was a carrier of the BRCA1 gene.
In her New York Times editorial she wrote, “… I hope that other women can benefit from my experience. Cancer is still a word that strikes fear into people’s hearts, producing a deep sense of powerlessness. But today it is possible to find out through a blood test whether you are highly susceptible to breast and ovarian cancer, and then take action.”
These words have opened the door to many women who live in the shadow of a mother, a grandmother, an aunt, or a sister who have had breast and/or ovarian cancer to speak up and ask the question that scares them most: Am I too at risk?
BRCA Gene
Here are the facts:
Statistics: A mutation in the BRCA gene confers a markedly increased risk of breast and ovarian cancer. The lifetime risk of breast cancer in the Caucasian American/European population is presently 12%, which means that one in nine women will be diagnosed with breast cancer if they live to 100 years old. One percent of the population will be diagnosed with ovarian cancer. Most breast cancers are sporadic in nature meaning they occur in women who do not have a family history of breast cancer. And yet 5 to 10% of all breast cancers occur in women who have a significant family history of breast cancer. One in 300 families of European descent carry the mutation; in the Ashkenazi eastern European population, one in 40 people carry a mutation. If a woman inherits a mutation in the BRCA gene, then there is a 50% incidence of breast cancer by age 50 and up to 87% lifetime chance of breast cancer. The risk of ovarian cancer increases to 44%.
Genetics: Women with a family history often develop cancer at an earlier stage or have an aggressive form of cancer. They may be more likely to develop two primary cancers as well. There may be an increased risk of prostate and pancreatic cancer in these families as well. A mutation in the BRCA gene is inherited as a dominant trait, which means that the inheritance of only one copy of the gene confers the increased risk. In other words, this means you can inherit it from either your mother or father.
Preventative Measures: Once the BRCA gene is identified, there are different interventions offered to patients/gene carriers. Jolie chose a prophylactic mastectomy, as it significantly reduced her lifetime risk of breast cancer. She also opted for reconstructive surgery for cosmetic purposes, which is in part why it took almost three months to complete the necessary surgeries and procedures.
The double prophylactic mastectomy is an aggressive route; for Jolie, the benefit (chances of developing breast cancer dropping from 87% to under 5%) outweighed the costs. It is important to note that surgery for prevention is not without its own risks from the surgical procedure itself. While what Jolie chose to do made sense to her and her loved ones, it is important to note that hers is not every woman’s journey, and there are certainly alternatives that may feel more comfortable. This includes extra screening for those with a family history of breast or ovarian cancer. Instead of one annual mammogram, screening for these high-risk women includes a yearly mammogram AND a yearly breast MRI – and the screening tests are alternated so that the breasts are carefully screened every six months. Extra screening may not decrease the incidence of breast cancer, but it can certainly help pick up concerning abnormalities at an early stage. In women with a breast cancer, taking a medicine called Tamoxifen every day reduces the risk of another breast cancer by 53%. This has been offered to women with the gene as well, as medical research indicates that Tamoxifen can decrease the incidence of a primary cancer.
Additional Preventative Measures: Removing the ovaries and fallopian tubes reduce the risk of breast cancer by 68% and of ovarian cancer by up to 96%. (Indeed, Jolie plans to have her ovaries removed as well to further increase her chances of avoiding the cancer that claimed her mother’s life.) Taking oral contraceptives may also decrease the risk of ovarian cancer by 60%, but the effect on breast cancer incidence with long-term use of the pills in a woman with a BRCA gene is not known. Of course there are families with multiple breast cancers who do not carry any gene mutation, but those women are still at an increased risk of diagnosis based on family history alone.
In our office we ask all patients about their family history of cancers. The National Comprehensive Cancer Network (NCCN) recommends offering patients a screening for BRCA gene if there is a family or personal history of:
- Breast cancer before age 50
- Ovarian cancer at any age
- Both breast and ovarian cancer in an individual at any age
- Two or more breast cancers in a family, with one under age 50
- Male breast cancer at any age
- Two primary breast cancers in one individual
- Women of Ashkenazi Jewish descent with breast or ovarian cancer at any age
- A previously identified BRCA mutation in the family
Education is power. Since the Human Genome Project identified the entire DNA in an organism, more and more genes that code for illness and disease or an increased risk of the same have been identified. I believe that patients should be made aware when there are tests available that may identify a genetic indicator of an increased risk of a disease. It gives them the option to then be tested, and it also opens the door to being empowered to decide for themselves (under the guidance of a doctor and genetics counselor) what, if any, intervention to choose for the outcome that suits them and their family best. There is an excellent book on this topic, Positive Results: Making the Best Decisions When You’re at High Risk for Breast or Ovarian Cancerby Ora Karp Gordon, MD, MS and Joi. L .Morris, that I highly recommend you read if you have concerns about your genetic make-up and your options.
Jolie was a brave woman to be tested, but more importantly she chose to make her personal medical history and decisions public to ensure that more people are aware of this relatively common mutation. All over the world, women are now feeling empowered to discuss their options with their own physicians. Thanks to Jolie’s celebrity status, the media coverage has been enormous and many people are beginning to understand that the era of personalized medicine – where medical protocols, treatments and decisions are dictated by an individual’s genetic makeup – is upon us.
BRCA mutations are just one genetic aberration that can be tested – there are others for colon and ovarian cancers, as well as for melanoma. In 2016, getting a genetic oncology panel includes 26-28 GENES that may affect a person’s risk for cancer. In my opinion, we should offer tests to patients if indicated and begin to adopt individualized health decisions. Jolie has used her profile to make a strong case for personalized medicine based on genetics and has thrust into the public spotlight a conversation that’s been in the making since the completion of the Human Genome Project in 2003.
In the end, there is no one right answer, but what feels right and comfortable to your family and you. Jolie’s public announcement was at once courageous and selfless; she shined a spotlight on the idea that the tools to fight for the right to a long and healthy life are more and more in our hands.
Together We’ll Find A Way
If you are concerned about a family history of breast or ovarian cancer or the BRCA genes in general, contact us today for more information and a referral for genetic counseling and screening.