DNA markers in molecular diagnostics for hepatocellular carcinoma

Expert Rev Mol Diagn. 2014 Sep;14(7):803-17. doi: 10.1586/14737159.2014.946908. Epub 2014 Aug 7.

Abstract

Hepatocellular carcinoma (HCC) is the one of the leading causes of cancer mortality in the world, mainly due to the difficulty of early detection and limited therapeutic options. The implementation of HCC surveillance programs in well-defined, high-risk populations were only able to detect about 40-50% of HCC at curative stages (Barcelona Clinic Liver Cancer stages 0 & 1) due to the low sensitivities of the current screening methods. The advance of sequencing technologies has identified numerous modifications as potential candidate DNA markers for diagnosis/surveillance. Here we aim to provide an overview of the DNA alterations that result in activation of cancer pathways known to potentially drive HCC carcinogenesis and to summarize performance characteristics of each DNA marker in the periphery (blood or urine) for HCC screening.

Keywords: HBV-associated HCC DNA markers; HCC DNA markers; HCC surveillance and early detection; circulating DNA biomarkers; hepatocellular carcinoma; non-invasive.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Biomarkers, Tumor / blood
  • Biomarkers, Tumor / genetics*
  • Carcinoma, Hepatocellular / diagnosis*
  • Carcinoma, Hepatocellular / genetics
  • Cell Cycle Checkpoints / genetics
  • DNA, Neoplasm / genetics*
  • Early Detection of Cancer / methods*
  • Genetic Markers / genetics
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Liver Neoplasms / diagnosis*
  • Liver Neoplasms / genetics
  • Wnt Signaling Pathway / genetics

Substances

  • Biomarkers, Tumor
  • DNA, Neoplasm
  • Genetic Markers