A significant study published in Nature Genetics has identified twelve genes associated with breast cancer specifically in women of African ancestry. This research, one of the largest of its kind, analyzed data from over 40,000 women from the United States, Africa, and Barbados, providing new insights into genetic differences that may impact breast cancer risk prediction.
Major Findings and Significance
The study included 18,034 women diagnosed with breast cancer. Some of the genetic mutations identified were previously unknown or not as strongly linked to breast cancer as shown in this research, suggesting that genetic risk factors can differ between women of African and European ancestry. One mutation, in particular, showed an exceptionally strong association with breast cancer, a rarity in cancer genetics.
Interestingly, certain genes known to increase breast cancer risk in white women were not associated with the disease in Black women. These differences are crucial for developing accurate breast cancer risk assessment tools tailored to women of African ancestry.
Addressing Breast Cancer Disparities
Black women in the United States face higher breast cancer rates before age 50, have more aggressive cancer types, and a 42% higher mortality rate than white women, according to the American Cancer Society. This study's findings could lead to improved screening and prevention strategies that address these disparities.
Led by Dr. Wei Zheng from Vanderbilt University Medical Center, the researchers developed a breast cancer risk score by integrating the newly identified genes with known genes like BRCA1 and BRCA2. This new score was significantly more accurate for women of African ancestry than existing models.
Focus on Triple-Negative Breast Cancer
The study also highlighted a focus on triple-negative breast cancer (TNBC), the most aggressive form of the disease. Black women have nearly three times the risk of TNBC compared to white women. Six of the identified genes were linked to an increased risk of TNBC. Women with all six genetic variants were 4.2 times more likely to develop TNBC than those with fewer or none of these variants.
Future Directions
Dr. Zheng emphasized that the practical use of these genetic variants in routine testing requires further evaluation. The potential for these findings to improve early detection and personalized treatment could significantly impact breast cancer outcomes for women of African ancestry.
Despite these advancements, disparities in genetic testing remain. The American Cancer Society notes that Black women in the U.S. are less likely to undergo genetic testing for breast cancer compared to white women, primarily due to differences in physician recommendations and access to care. The society advocates for genetic testing for all breast cancer patients, regardless of race, to ensure comprehensive risk assessment and management.
This research marks an essential step toward understanding the genetic factors of breast cancer in women of African ancestry. It underscores the importance of inclusive research that considers diverse populations to develop effective and equitable healthcare strategies. As further studies build on these findings, the aim is to reduce breast cancer disparities and improve health outcomes for all women.