In May of 2013, famous actress, Angelina Jolie Pitt made headline news when she disclosed she had preventive elective double mastectomy. In March 2015 she disclosed she had both her ovaries and both fallopian tubes removed. She had an inherited mutation in BRCA1. Mutations in BRCA1 and BRCA2 genes increases a women’s risk of developing breast and ovarian cancer. Angelina’s mother died at age 56 after fighting an eight-year battle with ovarian cancer. Knowing her risk and keeping in mind her 6 young children, Mrs Jolie Pitt made the brave decision to have both her breast removed. Angelina Jolie Pitt obviously has unlimited resources and access to quality medical care. Her willingness to share her personal medical history was brave and selfless. In sharing her personal history, she brought awareness to a breast cancer risk factor that many women knew nothing about; a potentially life saving awareness. A great example of “paying it forward.”
So here’s what we know about BRCA1 and BRCA2:
Mutations in BRCA1 and BRCA2 were first discovered in the mid-1990s in families with multiple cases of breast and ovarian cancer. BRCA1 and BRCA2 genes work to suppress cancer – they produce proteins that help prevent abnormal cell growth. Mutations in these genes can affect their function, thus allowing cancer cells to go unchecked. Mutations in BRCA genes can be inherited from either your mother or father. Thus far mutations in BRCA1 and BRCA2 are the most common cause of inherited breast and ovarian cancer. Research has shown that women who test positive for BRCA mutations have up to a 50 % to 83% chance of developing breast cancer and up to a 30% to 50% chance of developing ovarian cancer.
Most breast cancers are not caused by mutations in BRCA genes. About 5% to 10% of breast cancers are caused by mutations in theses genes. For African American women with breast cancer, the prevalence of mutations in BRCA1 is 1% and the prevalence of BRCA2 is 3%.
Who should get screen?
This is a loaded question. The recommendations are constantly evolving and changing. The U.S. Preventative Services Task Force (USPSTF) recommends that primary care physicians screen women who have family members with breast, ovarian or tubal cancer. In other words, your primary care physician can identify a cancer pattern history that is suspicious for BRCA gene mutations in your family.
Women with positive screening results should receive genetic counseling and if indicated BRCA testing. Women with a negative screening (meaning there is no family history suggestive of increased risk of BRCA mutations) should not receive genetic counseling or BRCA testing.
What parameters are used to determine if a family history is positive?
Family history factors associated with increased likelihood of potentially harmful BRCA mutations include the following:
1. Breast cancer diagnosis before 50 years of age
2. Bilateral breast cancer
3. Family history of breast cancer and ovarian cancer
4. Presence of breast cancer in one or more male family members
5. Multiple breast cancers in the family
6. One or more family members with two primary types of BRCA-related cancer
7. Ashkenazi Jewish ethnicity
What options do I have if I test positive for BRCA1 or BRCA2?
Treatment options for women who test positive for the BRCA mutation include the following:
- earlier, more frequent, or intensive cancer screening
- risk-reducing medications
- risk-reducing surgery (such as a mastectomy or removal of the ovaries)
The option you chose will vary for each woman. What may be right for you, may not be the right choice for someone else. In order for you to make the right decision, you have to be well informed. Seek guidance from a genetic counselor and your physician.
In Summary
Genetic testing and genetic screening is an ever evolving science. The best and first step is to establish care with a primary care physician or gynecologist. Know your personal risk factors. And know your family history. Alwaysremember early detection saves lives.