Gennady Margolin (NHGRI)
Hanna Petrykowska (NHGRI)
One of four deaths in the United States is due to cancer despite an emphasis on prevention, early detection, and treatment that has lowered cancer death rates by 20% in the past two decades. Further improvements in survival rates are likely to come from improving the limits of detection sensitivity at earlier stages of cancer. New approaches that rely heavily on genomic information, however, may change future testing strategies.
This invention is a method for detecting the presence of cancer in an individual by detecting the methylation state of a region in the promoter of the ZNF154 gene. A distinct advantage of this assay is that it is minimally invasive unlike currently available methods for diagnosing cancer which typically require a tissue biopsy. This method requires only blood samples and can detect many different types of cancers. Bioinformatics methods are provided to analyze the methylation state of the ZNF154 promoter and relate the methylation state to the likelihood of cancer in the individual from circulating tumor DNA.
- Diagnostic assay to detect cancer
- Monitoring tool to track patient response to cancer therapy
- Less invasive
- Less time consuming