About one-third of lung cancer patients who have never smoked have a small portion of DNA missing in the gene called EGFR. This missing portion is a mutation that drives cancer and causes tumors. In a recent study in PLOS ONE, Lyska Emerson, MD, a Huntsman Cancer Institute (HCI) researcher, looked at the patterns of four non-mutated EGFR genes. She was in search of a "destabilizing DNA sequence." This sequence could explain why that portion of the DNA—called the exon 19 deletion—goes missing in some people.
Emerson and her colleagues used third-generation technology that allows examination of longer stretches of DNA. They found a region of the EGFR gene that potentially interacts with the exon 19 deletion—the same deletion that causes the mutation driving cancer.
"If our model is correct," Emerson says, "then it is significant in understanding many other cancers that are driven by similar deletions in the DNA. More importantly, perhaps, it would give us a way to identify those more susceptible to cancer and hopefully intervene earlier."
In the future, Emerson and her colleagues hope to expand the number of cancer and non-cancer samples. With the newer third-generation DNA sequencing technologies, they may be able to gain further understanding of the molecular mechanisms contributing to human diseases, including cancer.
This research is supported by the National Cancer Institute grant P30 CA042014 and Huntsman Cancer Foundation.