Guest post by Susan K. Boolbol, MD FACS, Chief of the Appel-Venet Comprehensive Breast Service at Mount Sinai Beth Israel and Amanda Brandt, MS, Certified Genetic Counselor of the Mount Sinai Health System.
In an effort to raise public awareness about breast and ovarian cancer prevention, actress and director, Angelina Jolie, shared her personal story with the world. The New York Times letter revealed that a family history of ovarian cancer had prompted Jolie to seek genetic testing for the BRCA1 and BRCA2 genes, which are associated with hereditary breast and ovarian cancer. The testing revealed a heightened risk for both and she made the decision to undergo a preventative double-mastectomy and breast reconstruction surgery, reducing her breast cancer risk to under 5%.
The Stats
Approximately 5-10% of breast and ovarian cancers are due to genetic defects, known as mutations, that cause an increased risk for cancer, mostly due to the BRCA1 and BRCA2 genes.
The general population has a 12% risk of breast cancer and 1-2% risk of ovarian cancer. For women with a BRCA1 or BRCA2 inherited mutations the risks are significantly greater, with a lifetime risk of breast cancer up to 87% and a 27-44% risk of ovarian cancer.
Options
Knowing their risk empowers women to make informed decisions about their health, cancer screening, and the option of risk-reducing surgery. It also enables family members to determine their risk of having the same genetic mutation. For women who have this mutation, it is important to remember that there are options. While Angelina opted for risk-reducing surgery, another option is close surveillance with imaging and physical exams.
Who should consider testing?
Women with a personal or family history of breast cancer (particularly those diagnosed before the age of 50) or ovarian cancer are encouraged to speak to their doctor and to seek the expertise of a genetic counselor to assess the likelihood of a hereditary cancer gene in their family. Genetic counselors are specially trained healthcare professionals who can talk with women prior to and after genetic testing to help them understand the implications of their genetic test results, not only for themselves, but for their family members.