Heather Ochs-Balcom, PhD, an associate professor of epidemiology and environmental health in University at Buffalo’s School of Public Health and Health Professions, was awarded an $457,660 grant from the National Cancer Institute (NCI), part of the National Institutes of Health (NIH) to extend studies into hereditary breast cancer.
During a 2009-2014 study, known as “Jewels in Our Genes”, Dr. Ochs-Balcom and associates pinpointed four locations in the genome of African American women that may contain undiscovered genes contributing to hereditary breast cancer. This was the first breast cancer linkage study in African Americans. In contrast, the first linkage study for breast cancer in white women and the subsequent identification of BRCA1, the gene whose mutations are linked to hereditary breast cancer, was conducted in the early 1990s.
Using the new funds Ochs-Balcom and her colleagues from the University of Southern California, Case Western Reserve University and the National Institute of Environmental Health Sciences (NIEHS) will study the four genomic regions, identified by “Jewels in Our Genes”, in larger external datasets.
More than 18,500 African American women, including those who have been diagnosed with breast cancer, as well as women who are cancer-free will participate in the new study through their generous donation of samples.
The immediate next step is fine mapping of the four identified genomic regions to see what can be discovered that has relevance to breast cancer. In addition, Ochs-Balcom and her colleagues will conduct a genome-wide association study (GWAS), which searches the genome for small variations that commonly occur in people with a particular disease, integrating family-based data with population-based data from the Women’s Health Initiative.
“We hope to identify genes that are unique to African Americans that might explain differences in breast cancer risk.” … “If we see significant genetic variants in these regions in these larger datasets, that will help us to not only narrow down the regions to specific genes, but also may lead to new breast cancer gene discovery.”
“Our study will provide evidence for whether other genes not yet discovered are related to familial breast cancer risk in African Americans, a hypothesis we have been pursuing for years. A linkage study is an approach that can help to identify specific parts of chromosomes that are harboring undiscovered risk alleles and being passed through families.”
“Ultimately, we hope to identify new genes that are associated with breast cancer risk that can be used to identify women at risk long before they develop breast cancer so that their cancers can be prevented. In a similar vein, we hope that new genes that we discover can tell us more about how breast cancer develops and how different breast cancer types are unique.” – Heather Ochs-Balcom, PhD, Associate Professor of Epidemiology and Environmental Health, School of Public Health and Health Professions, University at Buffalo