Prevalence of Germline Pathogenic Variants in Black Women Versus Non-Hispanic White Women
Posted: Tuesday, August 17, 2021
There appears to be no difference in the prevalence of genetic mutations that cause breast cancer in Black women versus non-Hispanic White women, according to results of seven, multicenter population-based studies reported in JAMA Oncology. The analysis was conducted by Susan M. Domchek, MD, of the Abramson Cancer Center, at the University of Pennsylvania, and colleagues.
“We shouldn’t make changes to testing guidelines based on race alone. Rather, our efforts should focus on ensuring equal access to and uptake of testing to minimize disparities in care and outcomes,” commented Dr. Domchek in a Penn Medicine press release.
Researchers analyzed the prevalence of germline pathogenic variants in 12 established breast cancer susceptibility genes. Data were collected from June 1993 to June 2020 within the Cancer Risk Estimates Related to Susceptibility (CARRIERS) consortium. All patients were women diagnosed with breast cancer; they were not selected based on family history or age. The participants included 3,946 Black women, with a mean age at diagnosis of 56.5, and 25,287 non-Hispanic White women, with a mean age at diagnosis of 62.7.
The combined prevalence of pathogenic variants in the 12 breast cancer susceptibility genes evaluated was 5.65% in Black versus 5.06% in non-Hispanic White women. Regardless of race, younger age and estrogen receptor–negative breast cancer were found to be risk factors associated with the presence of some genes, including BRCA1, BRCA2, and PALB2.
These findings indicate there is insufficient evidence to consider race as a factor when deciding who should receive genetic testing for breast cancer. All patients should have equal access to genetic testing to avoid any racial disparities in treatment and outcomes, the authors stated.
Disclosure: The study authors reported no conflicts of interest.
