Last month, BRCA genetic mutations (BReast CAncer susceptibility genes) were highlighted in the media when actress Angelina Jolie revealed she had a prophylactic double mastectomy after testing positive for a genetic mutation. Womenwith the BRCA genetic mutation have a higher risk of developing breast and ovarian cancer than the general population. BRCA is responsible for five to seven percent of breast cancers and about 10 percent of ovarian cancers.
Recently, a study found that African American women with breast cancer are more likely than other women to have genetic mutations linked to their disease, and some of those mutations extend beyond the common BRCA1 and BRCA2mutations. One in five black women in this study had a BRCA mutation. This new data helps explain why black women have higher rates of breast cancer at younger ages, more aggressive forms of breast cancer, and worse chances of survival. Studies also reveal that African American women are less likely to be referred to genetic counseling even if they meet the criteria.
To better understand genetic breast cancer, here are the answers to some commonly asked questions:
What is BRCA?
BRCA 1 and 2 are inherited tumor suppressor genes. Mutations in these genes cause breast and ovarian cancer. BRCA 1 has a lifetime breast cancer risk of 65-74 percent and a lifetime ovarian cancer risk of 39-46 percent. BRCA 2 has a lifetime breast cancer risk of 65-74 percent and a lifetime ovarian cancer risk of 12-20 percent.
Who needs to be tested for BRCA?
All women who meet the following criteria:
- A personal history of breast cancer diagnosed at age 40 years or younger, a diagnosis of breast cancer affecting both breasts, or a diagnosis of both breast and ovarian cancers.
- A personal history of ovarian cancer and a close relative with ovarian cancer or premenopausal breast cancer or both.
- A personal history of breast cancer at age 50 or younger and a close relative with ovarian cancer or male breast cancer at any age.
- A personal history of breast cancer at age 50 or younger and a close relative with breast cancer 50 years or younger
- A personal history of breast cancer at any age and two or more close relatives with breast cancer at any age.
- A close relative with a known BRCA1 or BRCA2 mutation
- Women of Ashkenazi Jewish ancestry with a close relative who has breast or ovarian cancer, a personal history of ovarian cancer, or a personal history of breast cancer at age 50 or younger
- Women with ovarian cancer, peritoneal cancer or fallopian tube cancer
- Unaffected women with a close relative that meets one of the previous criteria
How is BRCA tested?
It’s a blood test that uses DNA analysis to identify mutations in the BRCA genes. The initial step is for women to meet with a genetic counselor who will take a detailed medical and family history and assess your risk for breast and ovarian cancer. Your counselor will discuss the implications of a positive, negative and uninformative test result. You will also review options for surveillance, or ways to detect cancer early, chemoprevention (taking medications), and risk-reducing surgery. Possible psychological, emotional and familial implications of test results are also discussed.
How much does BRCA testing cost?
The BRCA testing and genetic counseling should be covered by any plan started after March 23, 2010, because Health and Human Services has declared this one of the mandatory free preventative care measures covered under the Affordable Care Act.
What surveillance is needed for women who are BRCA positive?
Breast surveillance includes twice yearly breast exams by your doctor and annual mammogram and MRI no later than age 25. Surveillance for the ovaries includes having semiannual pelvic exams, annual transvaginal ultrasound imaging and blood tests.
What are risk-reducing strategies for BRCA positive women?
There are 2 options: chemoprevention and surgery. The chemotherapy drug Tamoxifen has been shown to reduce risk of breast cancer by 50 percent in pre- and postmenopausal women. Another FDA approved drug called Raloxifene has also been shown to reduce breast cancer risk-but only in postmenopausal women.Removal of both the ovaries and fallopian tubes reduces ovarian cancer by 90 percent and breast cancer by 50 percent. This should be offered by age 40 or when childbearing is complete. Bilateral mastectomy (removal of healthy breasts) reduces breast cancer risk by 90 percent.
Draion Burch, D.O., is a clinical associate professor of obstetrics and gynecology with the University of Pittsburgh School of Medicine as well as a board-certified, practicing obstetrician and gynecologist at Magee-Womens Hospital of UPMC.