Researchers from the Boston area, Mexico, and Norway have completed a comprehensive genomic analysis of cervical cancer in two patient populations. The study identified recurrent genetic mutations not previously found in cervical cancer, including at least one for which targeted treatments have been approved for other forms of cancer. The findings also shed light on the role that human papillomavirus (HPV) plays in the development of cervical cancer. The study appears online in Nature.
To investigate the genomic underpinnings of the disease, the team performed whole exome sequencing, which examines the genetic code in the protein-coding regions of the genome, on samples from 115 cervical cancer patients. In some cases, the researchers also conducted whole genome sequencing (analyzing the genetic code across the entire genome) or transcriptome sequencing (focusing on gene expression). In each case, the researchers compared genomic data derived from cervical cancer tumors with data from healthy tissue from the same individual to determine what may have gone wrong—or mutated—in the genome to allow the cancer to develop. The mutations identified in tumors but not in healthy tissues from the same individuals are referred to as somatic mutations.
The study identified 13 mutations that occurred frequently enough across the samples to be considered significant in cervical cancer. Eight of these mutations had not been linked to the disease previously, and two had not previously been seen in any cancer type. 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 HER2 had not previously been linked to cervical cancer, but it is a known oncogene common in breast cancer. Treatments exist that target the gene.
