Medical Research: What are the main findings of the study?
Dr. Rawlings-Goss: We found genetic mutations in key gene regulators that have been linked to ethnic disparities in cancer. Our investigation identified more than 30 previously undescribed mutations in important regulatory molecules called microRNAs. Individual microRNA molecules can regulate large numbers of genes in some cases over 6000 genes at once. Therefore, mutations in these genes have been linked to numerous diseases. By and large, however, microRNA mutations have not been studied in people of diverse ethnic backgrounds.
Medical Research: Were any of the findings unexpected?
Dr. Rawlings-Goss: In our study, we looked at 69 individuals from 14 worldwide populations from Africa, Europe and Asia. We were surprised to find that some mutations are more common in different parts of the world and these mutation are predominately associated with cancer.
Medical Research: What should clinicians and patients take away from your report?
Dr. Rawlings-Goss: MicroRNA disease discoveries have been made in primarily in people of European or Asian ancestry, resulting in an incomplete picture of global genetic variation in disease vulnerability. For example, one variant has been associated with breast cancer mortality and our team’s discovery could help explain why, once diagnosed with breast cancer, women with African ancestry are more likely to die from the disease than other women, even when the cancer is less frequent. Knowing about these differences could inform efforts to develop diagnostic tests or even treatments for diseases like cancer.
Medical Research: What recommendations do you have for future research as a result of this study?
Dr. Rawlings-Goss: Further investigation is needed in order to understand the patterns of variation at microRNA and their role in human adaptation to disease. Particularly, as genetic testing is being considered as the next frontier of cancer screenings, clinicians should keep in mind the effect of ethnicity and population history on disease outcomes.