A groundbreaking study led by Dr. Wei Zheng from Vanderbilt University has delved into the genetic risks of breast cancer among women of African descent.
Analyzing data from over 40,000 individuals, researchers uncovered 12 genetic regions associated with the disease, including variants linked to the aggressive triple-negative subtype, which Black women are more prone to develop.
Alarmingly, 8% of participants carried high-risk variants elevating their likelihood of developing triple-negative breast cancer by 4.2 times. The findings could lead to new treatment targets for this challenging cancer type.
The study, published in Nature Genetics on May 13, sheds light on breast cancer risks among Black women, who face higher mortality rates from the disease than white women.
The analysis uncovered 12 genetic regions, or loci, associated with breast cancer.
Notably, three of these loci are specifically linked to the aggressive triple-negative subtype, which Black women are twice as likely to develop compared to white women.
Alarmingly, 8% of study participants harbored two copies of the high-risk genetic variants within all three identified loci. This elevated their probability of developing the aggressive triple-negative breast cancer subtype by a staggering 4.2-fold compared to women with only one or no copies of these concerning variants.
Dr. Zheng emphasized the significance of these findings, stating:
“Data put together in this consortium have been and will continue to be used by researchers around the world.”
Since triple-negative breast cancer lacks specific cell receptors often targeted in treatment, such as estrogen or HER2 receptors, these insights may pave the way for the identification of new therapeutic targets.
The study also corroborated numerous previously identified breast cancer risk variants across diverse populations and uncovered an uncommon risk variant in ARHGEF38, a gene associated with prostate and lung cancers in the past.
The data gathered as part of the NIH-funded African Ancestry Breast Cancer Genetic Consortium encompassed 26 studies, with approximately 18,000 participants diagnosed with breast cancer. Most (85%) of the participants were African Americans, while the remaining were from Barbados or Africa.
With over 310,000 new breast cancer cases anticipated nationwide this year, Black women are more likely than white women to die from the disease. The study’s results, reported in Nature Genetics on May 13, highlight the urgent need for tailored research and treatment options to address the unique genetic risks faced by Black women.
