Cancer and Metastasis Reviews

, Volume 18, Issue 1, pp 65–73 | Cite as

Detection of Circulating Tumour DNA in the Blood (Plasma/Serum) of Cancer Patients

  • Philippe Anker
  • Hugh Mulcahy
  • Xu Qi Chen
  • Maurice Stroun


Small amounts of free DNA circulate in both healthy and diseased human plasma/serum, and increased concentrations of DNA are present in the plasma of cancer patients. Characteristics of tumour DNA have been found in genetic material extracted from the plasma of cancer patients. These features include decreased strand stability and the presence of specific oncogene, tumour suppressor gene and microsatellite alterations. Point mutations of the ras genes have been detected in the plasma DNA of patients suffering from haematopoetic malignancies, colorectal and pancreatic cancer, sometimes prior to clinical diagnosis. Rearranged immunoglobulin heavy chain DNA has been found in the plasma of patients with non-Hodgkins lymphoma and acute B cell leukaemia. Microsatellite instability, expressed either as a new allele or a loss of one allele (LOH) occurs in the plasma and serum DNA of patients suffering from head and neck, lung and renal cell cancer. The results obtained in many different cancers have opened a new research area indicating that plasma DNA might eventually be a suitable target for the development of non-invasive diagnostic, prognostic and follow-up tests for cancer.

mutation detection microsatellite DNA circulating DNA cancer plasma/serum 


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Copyright information

© Kluwer Academic Publishers 1999

Authors and Affiliations

  • Philippe Anker
    • 1
  • Hugh Mulcahy
    • 2
  • Xu Qi Chen
    • 1
  • Maurice Stroun
    • 1
  1. 1.Laboratoire de Biochimie et Physiologie végétale, Pavillon des IsotopesUniversity of GenevaSwitzerland
  2. 2.Digestive Diseases Research Centre, St Bartholomew's and Royal London School of Medicine and DentistryLondonUK

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