Zachariah H Foda, Akshaya V Annapragada, Kavya Boyapati, Daniel C Bruhm, Nicholas A Vulpescu, Jamie E Medina, Dimitrios Mathios, Stephen Cristiano, Noushin Niknafs, Harry T Luu, Michael G Goggins, Robert A Anders, Jing Sun, Shruti H Mehta, David L Thomas, Gregory D Kirk, Vilmos Adleff, Jillian Phallen, Robert B Scharpf, Amy K Kim, Victor E Velculescu
Liver cancer is a major cause of cancer mortality worldwide. Screening individuals at high-risk, including those with cirrhosis and viral hepatitis, provides an avenue for improved survival, but current screening methods are inadequate. In this study, we used whole-genome cell-free DNA fragmentome analyses to evaluate 724 individuals from the US, EU, or Hong Kong with hepatocellular carcinoma (HCC) or who were at average or high-risk for HCC. Using a machine learning model that incorporated multi-feature fragmentome data, the sensitivity for detecting cancer was 88% in an average risk population at 98% specificity, and 85% among high-risk individuals at 80% specificity...
November 18, 2022: Cancer Discovery