New study examines genetic risks of breast cancer in black women

National Cancer Survivors Day, June 2, cancer

Data collected as part of the NIH-funded African Ancestry Breast Cancer Genetic consortium will be used by researchers around the world.


In an ambitious effort to uncover the unique genetic risks associated with breast cancer in women of African descent, a research team led by Dr. Wei Zheng of Vanderbilt University has meticulously analyzed genetic data from over 40,000 individuals within this population.

The study, believed to be the largest genome-wide association study (GWAS) of its kind, sought to identify genetic variants more prevalent in participants with breast cancer compared to those without. According to the National Institutes of Health, the analysis revealed 12 genetic regions, or loci, associated with the disease, three of which were specifically associated with the aggressive triple-negative subtype, which black women are twice as likely to develop. compared to whites.

An alarming 8% of study participants carried two copies of high-risk genetic variants within the three identified loci, increasing their probability of developing the aggressive subtype of triple-negative breast cancer by 4.2 times compared to women who possess only one or missing any copies of these variants in relation to.

Dr. Zheng emphasized the importance of these findings, saying, “The data collected together in this consortium has been used 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 receptors or HER2, these insights may pave the way for the identification of new therapeutic targets.

The study also validated many previously identified breast cancer risk variants in different populations and discovered an unusual risk variant in ARHGEF38, a gene linked to prostate and lung cancer in the past. Data collected as part of the NIH-funded African Ancestry Breast Cancer Genetic Consortium included 26 studies, with approximately 18,000 participants who had been diagnosed with breast cancer. The majority (85%) of the participants were African American, with the remainder from Barbados or Africa.

Over 310,000 new cases of breast cancer are projected nationwide this year, and black women are more likely than white women to die from the disease. Results from the study were reported in Genetics of Nature on May 13.


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