I shared on this blog a while by my own breast cancer scare when my OB/GYN felt a lump in my breast during my annual exam. Fortunately for me, the lump turned out to be scar tissue from breast reduction surgery. But the truth of the matter is that black women have higher rates of breast cancer at young ages – and a worse chance of survival. This has been attributed to lifestyle choices and lack of medical care, but a recent study discovered that genetics may play a role.
Gene flaws that raise the risk of breast cancer are surprisingly common in black women with the disease, according to the first comprehensive testing. The study found that one-fifth of the black women who particpated in the study have BRCA mutations, a problem usually associated with women of Eastern European Jewish descent but recently highlighted by the plight of Angelina Jolie. This inherited mutation drastically raises our risk for breast and ovarian cancer. Doctors say these patients should be offered genetic counseling and may want to consider more frequent screening and prevention options, which can range from hormone-blocking pills to breast removal, as Jolie chose to do.
“We were surprised at our results,” said the study leader, Dr. Jane Churpek, a cancer specialist at the University of Chicago. Too few black women have been included in genetic studies in the past and most have not looked for mutations to the degree this one did, “so we just don’t have a good sense” of how much risk there is, she said. Children of someone with a BRCA mutation have a 50 percent chance of inheriting it.
The study involved 249 black breast cancer patients from Chicago area hospitals. Many had breast cancer at a young age, and half had a family history of the disease. They were given complete gene sequencing for all 18 known breast cancer risk genes rather than the usual tests that just look for a few specific mutations in BRCA genes. Gene flaws were found in 56, or 22 percent, of study participants; 46 of them involved BRCA1 or BRCA2 and the rest were less commonly mutated genes.
Harmful mutations were found in 30 percent of black women with “triple-negative breast cancer” – tumors whose growth is not fueled by estrogen, progesterone or the gene that the drug Herceptin targets. Doctors have long known that these harder-to-treat cases are more common in black women. Still, “it has always stumped us” to see black families with lots of breast cancer but no mutations that can be found in ordinary testing for BRCA genes, she said.
That was the situation for Alicia Cook, 44, a Chicago woman whose grandmother died of breast cancer, mother died of ovarian cancer and two sisters have had breast cancer. When she was first diagnosed with breast cancer nearly 10 years ago, a test for BRCA mutations was negative. Doctors said, “I’m sure there’s something going on genetically” but they didn’t have the tools to find it, Cook said. Last year, she had a recurrence and a sister who was diagnosed with the disease learned she carried a BRCA1 mutation. Cook was retested for the same mutation and found to have it. Now she is telling her relatives in hopes that more of them will seek genetic counseling and be aware of their risk.
I encourage you to talk to your doctor about genetic testing in addition to breast self-exams and mammograms, especially if breast cancer is in your family’s medical history. Knowledge is power!