Cancer and Metastasis Reviews

, Volume 32, Issue 1–2, pp 289–302 | Cite as

Hide and seek: tell-tale signs of breast cancer lurking in the blood

  • David S. GutteryEmail author
  • Kevin Blighe
  • Karen Page
  • Stephanie D. Marchese
  • Allison Hills
  • R. Charles Coombes
  • Justin Stebbing
  • Jacqueline A. ShawEmail author


Breast cancer treatment is improving due to the introduction of new drugs, guided by molecular testing of the primary tumour for mutations/oncogenic drivers (e.g. HER2 gene amplification). However, tumour tissue is not always available for molecular analysis, intra-tumoural heterogeneity is common and the “cancer genome” is known to evolve with time, particularly following treatment as resistance develops. After resection, those patients with only residual micrometastases are likely to be cured but those with radiologically detectable overt disease are not. Thus, the discovery of blood test(s) that could (1) alert clinicians to early primary or recurrent disease and (2) monitor response to treatment could impact significantly on mortality. Towards this, we and others have focused on molecular profiling of circulating nucleic acids isolated from plasma, both cell-free DNA (cfDNA) and microRNAs, and the relationship of these to circulating tumour cells (CTCs). This review considers the utility of each as circulating biomarkers in breast cancer with particular emphasis on the bioinformatic tools available to support molecular profiling.


Breast cancer Circulating nucleic acids Cell-free DNA Circulating miRNA Principal component analysis 


Conflicts of interest

The authors declare that they have no conflict of interest.


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Copyright information

© Springer Science+Business Media New York 2012

Authors and Affiliations

  • David S. Guttery
    • 1
    Email author
  • Kevin Blighe
    • 1
  • Karen Page
    • 1
  • Stephanie D. Marchese
    • 2
  • Allison Hills
    • 2
  • R. Charles Coombes
    • 2
  • Justin Stebbing
    • 2
  • Jacqueline A. Shaw
    • 1
    Email author
  1. 1.Department of Cancer Studies and Molecular MedicineLeicester Royal InfirmaryLeicesterUK
  2. 2.Division of CancerImperial CollegeLondonUK

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