Among the most notable findings were somatic point mutations in the gene ERBB2, which was found in a small but significant subset of the tumors. Mutations in this gene, which is also known as Her-2, had not been previously been linked to cervical cancer, but it is a known oncogene common in breast cancer. Treatments exist that target the gene.
"This suggests that a subset of cervical cancer patients could be candidates for clinical trials involving ERBB2 inhibitors, which are available and FDA-approved," explained Akinyemi Ojesina, a postdoctoral fellow in Matthew Meyerson's lab at the Broad Institute and Dana-Farber. Ojesina served as a co-first author of the paper along with Lee Lichtenstein of the Broad's Cancer Genome Analysis Group. "It is an exciting finding that could be translatable to the clinic."
The team also identified a novel mutation in the gene MAPK1. MAPK1 is one of the final steps in the MAP kinase signaling pathway a network of interconnected genes that play a role in cell growth regulation. Mutations in other genes in the pathway have been known to drive cancer, but this is the first time that MAPK1 itself has been found to be mutated. The finding opens up the possibility that MAPK1, like other genes in the MAP kinase signaling pathway, may be a viable therapeutic target.
Another key finding was the prevalence of mutations in genes affecting the immune system. Mutations in the gene HLA-A, which helps the body distinguish its own proteins from foreign invaders, were previously found to drive squamous cell lung cancer. In this study, another gene in the same complex HLA-B was found to be commonly mutated in cervical squamous cell carcinoma. This suggests that disruptions to the immune system may play a bigger role in can
|Contact: Nicole Davis|
Broad Institute of MIT and Harvard