Angelina Jolie came out publicly, in a 2013 New York Times Op-Ed article, explaining that she chose to undergo preventative bilateral mastectomies to reduce her risk of developing breast cancer after finding out she carried a BRCA gene mutation. After her announcement, testing for this mutation, preventative mastectomies (in those with a high-risk of developing breast cancer) and “prophylactic contralateral mastectomies” (in patients with breast cancer) increased dramatically around the world. This became widely referred to in the medical community as the “Angelina Jolie Effect,” as it helped shine a spotlight on the potential deadly cancer risks and the preventative options now available to BRCA gene mutation carriers that can significantly reduce these risks. We just learned this week, in another Op-Ed article, by Angelina Jolie Pitt, that she recently (at the age of 39) underwent a preventative surgery to remove her fallopian tubes and ovaries to reduce her risk of developing ovarian and fallopian tube cancer.
The vast majority of breast and ovarian cancers occur by chance, but a small percentage are related to inherited genetic abnormalities or mutations.
- Lifetime risk of breast cancer in women in the U.S.=12%
- Lifetime risk of developing ovarian cancer in women in the U.S.=<2%
In cases of hereditary breast and/or ovarian cancers, most occur as a result of mutations in either the BRCA1 or BRCA2 genes (this is called “hereditary breast and ovarian cancer syndrome” or “HBOC syndrome”.) These gene mutations can be inherited from your mother or father.
- Risk of having a BRCA-1 or BRCA-2 gene mutation in the U.S.=0.2%
Although the BRCA-1 and 2 gene mutations are currently among the most well-known genetic conditions associated with an increased risk of breast, ovarian, prostate, pancreatic, peritoneal and fallopian tube cancers, expect that in the future you will learn about many more genetic abnormalities that may also increase the risk of developing these and other cancers.
What are the risks associated with the presence of a BRCA gene mutation?
- In women (lifetime risk):
- up to an 87% risk of developing breast cancer
- up to a 44% risk of developing ovarian cancer
- up to a 64% risk of developing a second breast cancer
- In men (lifetime risk):
- up to a 7% risk of developing breast cancer
Who is at an increased risk for having a BRCA gene mutation?
BRCA gene mutations are considered “autosomal dominant,” which means you only need to get the abnormal gene from one parent in order for you to inherit the disease.
- A family member has a previously identified BRCA mutation
- You were diagnosed with breast cancer (at or under the age of 45 years old)
- You were diagnosed with breast cancer (at or under the age of 50 years old) and you have one or more close blood relatives with breast cancer that was diagnosed at or under the age of 50 years old
- You have been diagnosed with two separate breast cancers (one of which was diagnosed when you were under the age of 50 years old)
- You have been diagnosed with breast cancer (at any age) and you have 2 or more close blood relatives with a breast, ovarian or fallopian tube cancer at any age
- You have been diagnosed with breast cancer (at any age) and you have a close male blood relative with breast cancer
- You have a personal history (at any age) of having both breast cancer and ovarian or fallopian tube cancer
- You are of Ashkenazi Jewish ethnicity and have been diagnosed (at any age) with a breast, ovarian or fallopian tube cancer
- You were diagnosed with an ovarian or fallopian tube cancer (at any age)
What can you do if you have a BRCA mutation in managing your risk of breast or ovarian cancer?
- Increased surveillance:
- monthly self breast exams starting between 18-21 years old, and
- annual or semi-annual clinical breast exams starting between 25-35 years old
- annual or semi-annual transvaginal ultrasound and testing for CA-125 (blood test) to screen for ovarian cancer starting between 25-35 years old
- Chemoprevention (taking certain medications may decrease your risk of developing breast and ovarian cancer):
- Drugs such as Tamoxifen may reduce the risk of breast cancer
- Oral contraceptives may reduce the risk of ovarian cancer (by up to 60%)
- Preventative Surgery:
- Most experts recommend that these surgeries are done before the ages of 35-40, after which time the risks of breast and ovarian cancer in BRCA mutation carriers goes up significantly.
- Preventative mastectomies significantly reduces the risk of developing breast cancer (by greater than 90%)
- Preventative removal of the ovaries and fallopian tubes significantly reduces the risk of developing ovarian cancer (by up to 96%). This will place the women into menopause and she will be at an increased risk of cardiovascular disease, bone loss (osteoporosis) and cognitive changes. Removing the ovaries before menopause has been shown to decrease the risk of developing breast cancer in BRCA mutation carriers by 50%. Some women choose to do this instead of undergoing preventative mastectomies, and screen for breast cancer by undergoing annual breast MRI’s and mammograms. Unfortunately, there are no effective methods for screening and detecting early stage ovarian cancer.
**Read my article on prophylactic contralateral mastectomies**
- Live An AntiCancer Lifestyle:
- Your genes are not your destiny. If you have a BRCA mutation, your lifetime risk of developing breast or ovarian cancer can be as high as 80%. This wasn’t always the case. Decades ago, when we used to be more physically active, eat healthier, have less exposure to toxins, sleep more, have lower stress and be more socially involved with our community, family and friends, BRCA mutation carriers only had a 24% lifetime risk of developing breast or ovarian cancer. These healthful lifestyle and environmental factors cause epigenetic changes to our genes, making them less likely to promote cancer development. BRCA is just one of likely thousands of genes that when mutated increase the risk of cancer. Living an anticancer lifestyle is the most important thing you can do if you want to AntiCancerize the expression of your genes. Read more about this topic on this IOE Facebook link.
What is this test going to cost me?
- The majority of patients who are at increased risk of having a BRCA mutation are covered for testing and paying a copay of less than 10%. Most patients have no out-of-pocket costs for this test. The sticker price for this test is approximately $3,000.
If you test positive for the BRCA mutation can any health care insurance company determine your eligibility or charge you higher rates?
- No. The federal law “HIPAA” prohibits insurance companies from using the results of genetic testing in determining your eligibility for coverage and they can not charge you a higher rate.
How is the test administered?
- You will be asked to swish and spit a solution of mouthwash into a container. This liquid is then sent to the lab and analyzed. (In the liquid are cells from your tongue and cheeks that are able to be tested for the BRCA mutations.) Some physicians will order blood testing instead of saliva.
Testing for BRCA gene mutations (if you are at an increased risk of having the BRCA mutation) before undergoing surgery for breast cancer is highly encouraged:
The reason for this is that your surgeon and cancer care team may recommend preventative mastectomy and/or ovary removal all during the same operation. This has the advantage of sparing patients from having to undergo a second operation later. The typical turn-around time for getting the results back on the BRCA test is between 1-2 weeks, which is quick enough to not cause a significant delay in surgical treatment of the breast cancer.
Additional Resources:
BRCA1 and BRCA2: Cancer Risk and Genetic Testing (U.S. National Cancer Institute)
BRCA Analysis (Myriad Genetics- Patient Information)
BRCA Screening (Susan G. Komen Foundation- Patient Information)
Position Statement on BRCA Genetic Testing for Patients With and Without Breast Cancer (American Society of Breast Surgeons)
Inherited Risk for Breast & Ovarian Cancers (Memorial Sloan-Kettering Cancer Center)
Angelina Jolie’s Disclosure of Preventive Mastectomy Highlights Dilemma (editorial about BRCA testing and prophylactic mastectomy, New York Times, May 15, 2013)
Angelina Jolie Pitt: Diary of a Surgery
(Op-ed article by Angelina Jolie Pitt discussing her decision to undergo a preventative surgery to remove her ovaries and fallopian tubes. New York Times, March 24, 2015.
