"We've become increasingly aware that non-coded DNA has an important function related to human disease," said Michael Skinner, M.D., professor of pediatric surgery at the University of Texas Southwestern Medical Center and collaborator on the project. "Replication of this study in another set of patients is needed, but the results indicate that that this particular gene is an important one in breast cancer and they reveal more details about the expression of the gene. This kind of work could eventually result in the creation of a drug that would specifically interact with this gene to return expression levels to a normal range."

"Ninety percent of all the breast cancer patients we see aren't considered high risk patients, which means there wasn't any indication that they would be susceptible to breast cancer," said Dr. James Mullet, a radiologist at Carilion Clinic's Breast Care Center. "This compels us to screen everyone in some way. If we had a better test - one that is more robust and sensitive, but also specific - we could make sure the women with most risk are getting properly screened for breast cancer."

"One practical clinical application of this research is to have a test available that would allow us to tailor our screening better," Mullet said. "For example, we could lessen patients' time, expense, and worry if we could better determine which patients would need only a mammogram, as opposed to additional tests like ultrasound or screening breast MRI. This work may also give us genetic insight into the cause of the breast cancer that may develop in those 90 percent of patients who are not currently identified as high risk."

According to Garner, "There is a big gap between what is suspected and what is known about the genetics of cancer. While more work is needed to better understand how these changes play a role in cancer, these results can be used now as a new test for breast cancer susceptibility and, as our data suggests, for colon cancer susceptibility and possibly other types of cancer. We think this is just the beginning of what there is to be found in our junk DNA."

Source: Virginia Tech