At age 37, Angelina Jolie had her breasts and ovaries removed in an effort to reduce her risk of getting cancer. The big screen actress, who has a strong family history of cancer, made the decision to have the surgeries after learning that she inherited a mutation of the BRCA1 gene – an indicator of being high risk for breast cancer.
“Choosing to have a mastectomy is a very personal decision for a BRCA positive woman,” says Jennifer Scalia Wilbur, MS, a genetic counselor with the Cancer Risk Assessment and Prevention Program at the Program in Women’s Oncology at Women & Infants Hospital. “Only a small percentage of positive women choose to have a double mastectomy, but those who do seem to be very satisfied with their decision.”
Having a mastectomy is the most effective way to reduce breast cancer risk – lowering it to about 5%. Other options include vigilant screening and taking medication to reduce breast cancer risk. In addition, by having your ovaries and fallopian tubes removed at a premenopausal age, you can reduce the risk of breast cancer by approximately 50%.
Gene mutations increase risk
BRCA1 and BRCA2 stand for “breast cancer susceptibility gene 1” and “breast cancer susceptibility gene 2.” These genes, known as tumor suppressors, help to maintain stable cell genetic material (DNA) and help prevent cells from growing uncontrollably. If you inherit mutated BRCA1 or BRCA2 genes, your risk of getting breast cancer can increase to almost 90%.
Approximately 15 to 20% of breast cancer is believed to be caused by inherited genetic mutations. BRCA1 and BRCA2 mutations account for the majority of these cases. “They increase risk of breast, ovary, male breast, prostate, and pancreatic cancers,” Scalia reports.
A personal decision
Erin McGinnis, 31, formerly of Providence, wanted to get genetic testing to see if she was BRCA2 positive after her mother and two aunts got breast cancer and tested positive for the gene. After learning that she was also positive, in addition to having other risk factors, McGinnis knew she had a very high risk for getting breast cancer. Obsessed with her probable fate, she decided to get a double mastectomy. “Watching my mom suffer through chemotherapy and having a double mastectomy was really hard,” McGinnis says. “The last thing I wanted to do was go through what she did.”
She was very relieved when the surgery was over. “I felt empowered and was happy with my decision. There is no longer a dark cloud hanging over my head.”
Are you at risk?
Genetic tests are available to check for BRCA1 and BRCA2 mutations. Before making the decision to be tested, you should discuss your risk for breast cancer with a genetic counselor.
The greatest risks for getting breast cancer are:
- Being a woman
- If you have had breast cancer before
- If a close female relative has had it
- Having a BRCA1 or BRCA2 gene mutation
- Radiation exposure to your chest
- Being of Ashkenazi Jewish descent
Genetic testing can estimate your risk of getting breast cancer. Before getting tested, you should meet with a genetic counselor and discuss you and your family’s history of breast cancer. “This is the most important tool for assessing cancer risk,” Scalia says.
If Scalia believes you are at risk for an inherited genetic mutation, she will review appropriate cancer genetic tests as well as their associated cancer risks, recommended medical management options, and their effect on family members. Cost, insurance coverage, and possible insurance discrimination issues are also discussed.
The test is a simple blood test or mouth swab. Results are available within two to three weeks. Mastectomy is an option for women who test positive for breast and ovarian cancer syndrome (BRCA1 and BRCA2 genes), Li-Fraumeni Syndrome (p53 gene), and Cowden’s Syndrome (PTEN gene).
You can now take breast cancer testing one step further. New inherited breast cancer tests called “panel tests” analyze multiple hereditary breast cancer genes when BRCA gene testing is negative.
“These tests can be appropriate for strong breast cancer families that are BRCA negative,” says Scalia, who notes that counseling also plays an important role in this scenario because these tests include newly-discovered genes that have limited information about risk and management.