Scientists have made a medical breakthrough after discovering two genetic mutations responsible for up to 40% of brain cancer tumours in children.
Study researchers from the Research Institute of the McGill University Health Centre, believe that their discovery could change the way paediatric cancers are treated, especially glioblastoma, which is a deadly brain cancer that cannot be treated with chemotherapy or radiotherapy.
Researchers identified two mutations in a vital gene known as histone H3.3. This gene is part of the body’s 'genetic heritage' as it shapes the expression of our genes by regulating and protecting our genetic information.
These mutations were found to be involved in DNA regulation and could go on to explain why the body doesn’t react to chemotherapy or radiotherapy, as the mutated gene builds up a resistance to traditional cancer treatment.
"These mutations prevent the cells from differentiating normally and help protect the genetic information of the tumour, making it less sensitive to radiotherapy and chemotherapy," says Dr. Nada Jabado from the study.
Researchers identified irregular regulation of the H3.3 gene in other cancers such as colon, pancreatic, lymphoma and leukemia but scientists are hopeful that this discovery could help them improve treatment for these diseases.
"What is significant here is that for the first time in humans we have identified a mutation in one of the most important genes that regulates and protects our genetic information.
"This is the irrefutable proof that our genome, if modified, can lead to cancer and probably other diseases. What genomics has shown us today is only the beginning," adds Dr. Jabado.
According to the study, published in the Nature journal, brain tumours are the primary cause of death for children with cancer in Europe and North America. It’s estimated that children struck down with glioblastoma die within two years of diagnosis, regardless of treatment.