The researchers also discovered novel mutations that haven’t previously been linked to cancer, pointing to new avenues for research. “No one studying myeloma had even heard of these genes,” says Golub. “We don’t know what these mutations do or how they cause cancer, or even whether they will make good drug targets, but it tells you this is where the field should be looking in greater detail.”
The project was the brainchild of the Multiple Myeloma Research Foundation, a patient advocacy group that funded the research and provided cancer samples. About 20,000 new cases of multiple myeloma are diagnosed in the U.S. each year. The disease has a five-year survival rate of less than 40 percent. Kathy Giusti, the organization’s founder, says the findings are already being used to direct funding decisions. The study identified mutations in enzymes involved in the way DNA is packaged, so the foundation has invested $5 million in this area of research and funded two biotech companies working in the field.
Scientists are now sequencing additional myeloma genomes and expect to have a few hundred completed in the next two years. “The field is barreling forward such that we expect many thousands of genomes to be sequenced across different cancer types in next several years,” says Golub.
The next step is to figure out what role these mutations play in cancer. “Do they activate or inactivate growth and survival, drug resistance, or signaling pathways?” says Anderson. To do this, scientists study the effect of the mutations in cancer cell lines and animal models of the disease. “That will open the potential for development of novel targeted therapeutics directed at fundamental genetic abnormalities that are hallmarks of this disease,” says Anderson.