June 5th 2024.
A team of researchers, led by Dr. Wei Zheng from Vanderbilt University, embarked on a bold mission to unravel the unique genetic risks associated with breast cancer in women of African descent. With great diligence, they delved into genetic data from over 40,000 individuals within this population, making this study the largest of its kind.
Their aim was to identify genetic markers that are more prevalent in women with breast cancer compared to those without. After thorough analysis, the team, in collaboration with the National Institutes of Health, discovered 12 genetic regions, or loci, associated with the disease. Among these, three were specifically linked to the aggressive triple-negative subtype, which is twice as likely to occur in Black women compared to white women.
An alarming 8% of the participants in the study were found to carry two copies of the high-risk genetic variants in all three of the identified loci. This significantly increased their chances of developing the aggressive triple-negative subtype by a staggering 4.2-fold, in comparison to those with only one or no copies of these concerning variants.
Dr. Zheng emphasized the importance of these findings, stating that the data collected by this consortium will be utilized by researchers worldwide. This could potentially lead to the identification of new therapeutic targets for the aggressive triple-negative subtype, which lacks specific cell receptors commonly targeted in treatment.
Moreover, the study also confirmed the existence of previously identified breast cancer risk variants across different populations, while also uncovering a rare risk variant in the ARHGEF38 gene. This gene has been associated with prostate and lung cancers in the past. The research, funded by the National Institutes of Health, brought together data from 26 studies, with approximately 18,000 participants diagnosed with breast cancer. Most of the participants were African Americans, while the rest were from Barbados or Africa.
Breast cancer continues to be a major health concern, with an estimated 310,000 new cases expected to emerge in the United States this year alone. It is troubling to note that Black women are more likely to succumb to the disease compared to their white counterparts. The results of this study, published in Nature Genetics on May 13, could potentially pave the way for better understanding and management of breast cancer in women of African descent.
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