For the study, the research team produced "genomic" profiles of the ETMR/ETANTR tumors, and also integrated and analyzed data from five massive publicly available data sets. Their analysis suggested that, in patients with ETMR/ETANTR, a developmental pathway a process involved in the early formation of an organ in an embryo is somehow "hijacked." As a result, patients produce a specific form of an enzyme known as DNMT3B far later in development and in far greater quantities than normal.
"Genomic approaches are offering unprecedented opportunities to understand cancer," explains co-principal investigator, Dr. Jacek Majewski, associate professor in the Department of Human Genetics at McGill University and a researcher at the McGill University and Genome Quebec Innovation Centre. "In the past, researchers would meticulously follow individual genes and proteins to try to piece together what goes awry in a tumour. Today, we can rapidly look at the entire genome and, using computational analysis, identify the incorrectly produced genes all with very little prior knowledge of the biology of the disease. In the case of the ETMR/ETANTR, within a few months we were able to go from tumour to a very promising target gene DNMT3B."
Abnormalities in DNMT3B have previously been linked to a range of cognitive problems. Forms of this enzyme are also seen in some leukemia and breast cancer types, and are often associated with poor outcomes. The research team found that, in patients with ETMR/ETANTR, the enzyme was present in huge quantities and at a stage of development when it should not be present
|Contact: Julie Robert|
McGill University Health Centre