Young black women with breast cancer more likely to have BRCA mutations

Young black women with breast cancer have much greater prevalence of BRCA1 or BRCA2 gene mutations than non-Hispanic white women. Consequently, doctors should recommend genetic testing in all young black women with invasive breast cancer, according to a study published online August 19, 2015 in Cancer.

Researchers know that young black women are more likely to have aggressive, triple-negative breast cancer with relatively poor survival. But they didn’t know to what extent differences in BRCA mutations fit into the clinical picture. Thus, researchers at Moffitt Cancer Center in Tampa, FL, investigated whether mutations in the BRCA gene could help account for this higher rate of aggressive breast cancers among young black women.

Investigators used the Florida Cancer Registry to recruit 396 black women under the age of 50 who were diagnosed with invasive breast cancer. Researchers collected saliva specimens for BRCA sequencing and analyzed the results. They found that 12.4% of the participants had mutations in either BRCA1 or BRCA2—a significantly higher prevalence than an estimated 5% percent of non-Hispanic white women with breast cancer who have such mutations.

Furthermore, over 40% percent of young black women with a BRCA mutation had no close relatives with breast or ovarian cancer, which indicates that family history alone may not identify those at risk for carrying a pathogenic mutation.

“Our results suggest that it may be appropriate to recommend BRCA testing in all black women with invasive breast cancer diagnosed at or below age 50,” said lead investigator Tuya Pal, MD, a clinical geneticist at Moffitt.

However, an earlier report by the same researchers published in Breast Cancer Research and Treatment found that only about half of black women diagnosed with breast cancer were referred for, or received, genetic counseling or testing. They discovered that health care providers tend to refer patients for genetic counseling more frequently if the patients have a college education, are 45 years of age or younger, or have triple negative breast cancer. Also, black patients are more likely to seek genetic services if they receive a physician’s referral, have private health insurance, and higher incomes. 

“Overall, our results suggest that there is a great need to improve access to genetic services among high-risk black women,” said lead author Deborah Cragun, PhD, researcher and genetic counselor at Moffitt.

Genetic testing is important because patients who become aware of BRCA mutations can take additional steps for cancer prevention. “Women who are identified with a mutation have an opportunity to be proactive about their health through cancer preventive options,” said co-lead investigator Susan Vadaparampil, PhD, MPH, behavioral scientist at Moffitt.