Newly Identified Genetic Variants Linked to Breast Cancer Risk in Women of African Ancestry

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Researchers have uncovered novel genetic variants potentially associated with a higher risk of breast cancer–related mortality among women of African ancestry, according to a recent study published by Jia et al in Nature Genetics.


Breast cancer is the most common type of cancer among women in the United States, and triple-negative breast cancer is an aggressive subtype that women of West African ancestry are more likely to develop compared with women of other ethnic backgrounds.

Study Methods and Results

In the recent study, the researchers conducted a genome-wide association study involving 18,034 women with breast cancer and 22,014 controls of African ancestry.

The researchers discovered genetic variants at 12 loci associated with the risk of breast cancer at the genome-wide significant level—three of which were linked to a greater risk of triple-negative breast cancer. Approximately 8% of the women of African ancestry carried all six risk variants in these loci, making them 4.2 times more likely to be diagnosed with triple-negative breast cancer compared with those who carried none or only one of the variants.

Incorporating the newly identified genetic variants into polygenic risk score analyses significantly improved breast cancer risk prediction in women of African ancestry.


The findings may place women of African ancestry on a more equitable status with women of European and Asian ancestry when deriving breast cancer polygenic risk scores to assess cancer susceptibility.

“We have worked with researchers from more than 15 institutions in the [United States] and Africa to establish this large genetic consortium. Data put together in this consortium have been and will continue to be used by researchers around the world to address significant questions related to breast cancer etiology and genetics,” concluded senior study author Wei Zheng, MD, PhD, MPH, the Anne Potter Wilson Professor of Medicine and Director of the Vanderbilt Epidemiology Center at the Vanderbilt University Medical Center.

Disclosure: The research in this study was supported by the National Institutes of Health. For full disclosures of the study authors, visit

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