Black and white women have same mutations linked to breast cancer risk

The prevalence of genetic mutations associated with breast cancer in Black and white women is the same, according to a new JAMA Oncology study of nearly 30,000 patients led by researchers in the Basser Center for BRCA at the Abramson Cancer Center. About 5% of both Black and white women have a genetic mutation that increases their risk of breast cancer.

Two people, one Black one white, sitting in a waiting room wearing masks.

“The findings challenge past, smaller studies that found Black women face a greater genetic risk and the suggestion that race should be an independent factor when considering genetic testing,” says first author Susan Domchek, executive director of the Basser Center for BRCA. “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.”

Black women are more likely to be diagnosed with breast cancer before age 50 or with estrogen receptor (ER)–negative and triple-negative breast cancer than non-Hispanic white women. It has remained unclear whether these disparities are related to racial differences in germline genetic pathogenic variants (PVs) in known breast cancer genes and if race should inform strategies for genetic testing.

Compared to white women, Black women are much less likely to undergo genetic counseling and testing, largely due to differences in physician recommendations or access to care.

To help close that gap, the Basser Center launched its Black & BRCA initiative in 2020 to bring tailored resources and support to the Black community for genetic counseling and testing. The outreach effort provides tools to collect family history, addresses myths, and educates providers.

“At a time when Black men and women are more likely to be diagnosed with cancer at later stages when it is less treatable, Black & BRCA seeks to empower people to understand their family health history and take action to prevent cancer from one generation to the next,” Domchek says.

Read more at Penn Medicine News.