Cancer assessment by plasma nucleic acid analysis

Abstract

Tumour-derived nucleic acid molecules have been found in the plasma of cancer patients. Our group and others showed that the detection and quantification of circulating tumour-derived nucleic acid molecules offered value for the detection, prognostication and monitoring of cancers. A number of classes of circulating nucleic acid species have been found to be released by tumour tissues and include DNA molecules showing tumour-specific mutations or translocations, RNA transcripts, DNA methylation signatures and viral-associated sequences. A number of analytical approaches have been developed to achieve sensitive and specific detection of such tumour-specific nucleic acid markers in plasma. Strategies included the real-time polymerase chain reaction quantification of Epstein-Barr virus DNA in plasma of patients with nasopharyngeal carcinoma, methylation-sensitive restriction enzyme based detection of hypermethylated <i>Ras association domain family 1 A (RASSF1A)</i> sequences in plasma of hepatocellular carcinoma patients, and digital polymerase chain reaction detection of <i>epidermal growth factor receptor (EGFR)</i> mutations in plasma of lung cancer patients. <h3>Acknowledgement</h3> Supported by the Research Grants Council of the Hong Kong Special Administrative Region, China [T12-404/ 11].