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. Women
with 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.
|Draion M. Burch, D.O.|
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 BRCA2
mutations. 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.
understand genetic breast cancer, here are the answers to some commonly asked
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.
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
- Unaffected women with a close relative that meets one of the
is BRCA tested?
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.
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.
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.
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.
Labels: breast cancer, genetic counseling, Magee-Womens Hospital of UPMC