Heather Ochs-Balcom, a researcher at the University of Buffalo, recently led the “Jewels in our Genes” study that cleared previously unknown sequences of DNA that African American family members who develop breast cancer share in common.
Ochs-Balcom, who works as a genetic epidemiologist, said in a press release: “The discovery of these regions supports our hypothesis that there are still undiscovered breast cancer genes that may be unique to African Americans. We can now focus on these specific chromosomes to learn if they house genetic mutations linked to breast cancer.”
“We also need to determine whether those mutations are found in other racial groups or if they are unique to African Americans. If they are unique, it could explain why young African American women have a higher risk of pre-menopausal breast cancer compared to other groups. Our study used linkage analysis, a powerful tool that helps to detect the chromosomal location of disease genes by examining genetic markers across the entire human genome. Our family-based gene hunt is similar to the groundbreaking study among women with European ancestry done in the early 1990s that led to the discovery of BRCA1 and BRCA2 gene mutations, which greatly increase susceptibility to breast and ovarian cancer,” the researcher noted.
Women who are African American can also carry BRCA mutations, but the investigator suspects that there might be additional and uncleared mutations connected to breast cancer among them.
Ochs-Balcom noted that family studies like this one have been hard to conduct in the past since it is difficult to get multiple family members to participate together. “We found here that approaching the recruitment of African Americans by using a multi-pronged approach that included collaboration from our community partnerships greatly facilitated success,” she explained.
African American women feature a higher incidence of pre-menopausal breast cancer and also a higher breast cancer mortality rate in comparison to European Americans. They also have higher chances of developing early-onset cancers that are extremely aggressive and hard to treat. These cancers might be due to unknown genetic anomalies that, once found, could lead to early detection and treatments.
“Our exciting results suggest that family-based studies are a great strategy to use when searching for new breast cancer genes and these findings may pave the way for further family-based research in this understudied population,” concluded the researcher.