Frank Orlando, M.D., a resident at the University of Florida College of Medicine, recently was honored for his research into the presence of epigenetically modified genes in breast cancer tumors.
Orlando received second place at the 13th Annual Multidisciplinary Symposium on Breast Disease held mid-February in Amelia Island, Fla. His research presentation highlighted the new discovery of a specific epigenetically modified gene, FOXJ1, in breast cancer and its future potential for helping to diagnose breast cancer cells more decisively and earlier.
Epigenetically modified genes have experienced changes at the chromosomal level that result in a silencing effect, therefore they are not functioning as they should be. When a tumor suppressor gene is silenced, there is a risk for malignant transformation. A relatively new field, the hope is that epigenetic research will help with better sub-typing cancers and lead to tests to earlier diagnosis malignant cells.
“There is a two-hit hypothesis and that means that the cells are smart and they can adjust to problems,” Orlando said. “So you can’t just have one abnormality, you need at least two. So the understanding is that both genetics and epigenetics contribute to the malignant transformation of cells.”
Previous work conducted at UF, discovered four new epigenetically modified genes appearing in mouse mammary cancer cells. When then tested on samples of human tumors, FOXJ1 was identified in all types, whereas the other three were only found in some or none of the breast cancer tissues. Orlando’s work then focused on further examining the role of FOXJ1. The function of FOXJ1 is consistent with a tumor suppressor gene, but until now it had only been studied in autoimmune diseases.
Orlando is one of the department of surgery’s two National Institutes of Health T32 grant-funded research fellows. He conducted his research with principal investigator, Kevin Brown, Ph.D., an associate professor in the department of biochemistry and molecular biology. The research also was supported by a grant from The Royal Dames of Breast Cancer Research, Inc.