Previously unknown genomic regions found in African American families with breast cancer

The “Jewels in our Genes” study, led by University at Buffalo researcher Heather Ochs-Balcom, PhD, has uncovered previously unknown segments of DNA shared by African American family members who have breast cancer.

“The discovery of these regions supports our hypothesis that there are still undiscovered breast cancer genes that may be unique to African Americans,” says Ochs-Balcom. “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 study examined the DNA of 106 African American families not known to carry BRCA mutations tied to hereditary breast-ovarian cancer syndrome. Participants included 179 women who had been diagnosed with breast cancer and 76 of their sisters who never had the disease.