Last week, actress and producer Angelina Jolie made public her decision to have a preventive double mastectomy because she carries a genetic mutation that places her at high risk for developing breast and ovarian cancer.
That mutation, BRCA1, puts Jolie in the same risk category as about 5 percent of all women who develop breast cancer, a distressing 200,000 new cases each year in the United States. Genetic mutations account for nearly 10 percent of all breast cancers; the two most common mutations are the BRCA1 and BRCA2. Those mutations are notorious for increasing the risk of many other cancers, including ovarian cancer by as much as 45 percent.
Currently, there is only one way for a woman to learn whether she carries one of the BRCA mutations, which involves a blood test or a mouth swab. Myriad Genetics, a molecular diagnostic company, holds the patent for the necessary genetic testing and charges $3,000 for each test.
To receive the test, women and men, who also can carry the mutation, usually have to see a medical geneticist or go to a high-risk breast cancer clinic.
At the Indiana University Melvin and Bren Simon Cancer Center, patients at the high-risk clinic can undergo a risk assessment, genetic counseling, and testing for BRCA mutations when indicated. Those in the high-risk group are advised to have physician-directed, twice-yearly breast exams and imaging; surgical and nutritional counseling when appropriate; and medications to reduce the risk of developing breast cancer.
Women who test positive for BRCA1 or BRCA2 are counseled on their options, which may include a preventive double mastectomy to reduce their lifetime risk of developing breast cancer from 80 percent to less than 5 percent.
All of this can be daunting. But I am working with other researchers at the IU Simon Cancer Center to make it easier for women and men to be tested for genetic mutations that place them at high risk for breast cancer. My colleagues and I are developing another blood test that we hope will accurately identify the BRCA mutations for those at increased risk for breast cancer.
We hope that this test, which would be less expensive and faster to complete, will reduce some of the angst that women experience when going through the potentially life-saving process of high-risk testing.
Much of the important work we do at the IU Simon Cancer Center would not be possible without the generosity of the Vera Bradley Foundation for Breast Cancer and the people and companies of Fort Wayne who support it. Since 1998, the foundation has given $17.65 million toward a $20 million pledge to fund breast cancer research.
Funding has also been used to seed pilot projects to test new drugs and combinations of drugs in patients for whom all other options have failed; to investigate ways to predict which patients are likely to suffer a recurrence of their disease; and to search for and target other genetic drivers of breast cancer.
While our research is centered in Indianapolis, our goal is to make discoveries that help patients throughout Indiana – and throughout the world – because we believe no one should have to live with the fear of developing breast cancer.