Genetic testing has shown that some women are predisposed to developing breast or ovarian cancer, especially at a young age. Unfortunately for some, it’s hereditary. Dr. Luisa Kontoules, a board-certified general ObGyn physician who has practiced on the North Shore since 1988, talks below about the BRCA gene and what it means for women — and men — who have a history
of breast or ovarian cancer in their families.
Q: What is BRCA?
A: BRCA 1 and 2 stands for BReast CAncer gene 1 and gene 2. We inherit one copy of each gene from each of our parents. When these genes are damaged or abnormal (called a mutation), there is a higher chance of developing breast and ovarian cancers. Men who have BRCA mutations also have a higher chance of developing breast cancer, as well as other cancers.
Q: What risks does a woman who carries BRCA face?
A: She has an up to 87 percent lifetime risk of developing breast cancer, and an up to 54 percent lifetime risk of developing ovarian cancer. Remember that most women have only a 1:8 (about 12 percent) lifetime risk of developing breast cancer, and a 1 percent lifetime chance of developing ovarian cancer.
Q: How can a woman find out if she carries BRCA?
A: BRCA mutations are detected by a blood test.
Q: Is BRCA and hereditary ovarian or breast cancer a relatively new discovery in the medical field?
A: No. The BRCA genes were discovered in 1994.
Q: Are there additional options for treatment for a woman diagnosed with breast or ovarian cancer who carries BRCA?
A: Yes. Women who carry BRCA mutations need to start their screening tests for breast cancer at age 25, and for ovarian cancer at age 30. They also need counselling about medications and surgeries that can greatly reduce their risk of developing these cancers, such as tamoxifen, birth control pills, prophyllactic mastectomies and removal of their fallopian tubes and ovaries
after completion of childbearing. BRCA 2 mutations also increase the risk of developing melanoma and pancreatic cancer. They can be referred to dermatologists and gastrointestinal specialists for increased surveillance for these types of cancers. Women who have already developed breast or ovarian cancer can still benefit from BRCA testing. It’s also extremely useful information for their genetic relatives. If a woman carries a BRCA mutation, there is a 50:50 chance that any one of their
genetic relatives have it too. Knowledge is power, and it opens the door to learning about all the various options that are available for both prevention and early diagnosis of these cancers.
Q: Are there any lifestyle changes a woman can make to reduce the possibility of developing hereditary ovarian or breast cancer?
A: Lifestyle changes — no, because these are genetic traits. But there are other options available to reduce their risk (as described above).
Q: Are there any current medical guidelines for testing women for BRCA if they have a history of breast cancer in their family?
A: Yes. There are certain “red flags” to look for:
- An individual with, or a family history of, any of the following:
- Breast cancer diagnosed at age 50 or younger
- Ovarian cancer at any age
- Two primary breast cancers (breast cancer in both breasts)
- Male breast cancer
- Triple-negative breast cancer
- Pancreatic cancer with a breast or ovarian cancer
- Ashkenazi Jewish ancestry with breast or ovarian cancer
- Two or more relatives with breast cancer, one under age 50
- Three or more relatives with breast cancer at any age
- A known BRCA mutation in the family
For additional information about early detection for breast or ovarian cancer, Kontoules suggests Bright Pink. The national nonprofit organization has a Boston area chapter.