Study Reveals New Details of Breast Cancer in Women of Asian, European Ancestry

By analyzing genomic and transcriptomic data from hundreds of thousands of breast cancer patients and healthy controls of Asian and European ancestry, a team led by scientists from Vanderbilt University have uncovered new details about the genetics of the disease. As reported this week in the American Journal of Human Genetics, the researchers performed meta-analyses of data from the Asia Breast Cancer Consortium and the Breast Cancer Association Consortium — including 139,523 women of Asian ancestry and 247,173 women of European ancestry — to identify new breast cancer risk loci and better understand the disease's genetics across different populations. At the same time, they conducted a transcriptome-wide association study to uncover putative breast cancer susceptibility genes. They find a large number of genetic variants associated with breast cancer risk, as well as potential target genes for the disease. The researchers also find significant differences for many of the variants and genes in association with breast cancer risk by estrogen receptor status and ancestry. Pathway analyses, meantime, revealed multiple signaling pathways that may play a significant role in the development of breast cancer.