Analytical and Bioanalytical Chemistry

, Volume 411, Issue 17, pp 3769–3776 | Cite as

Paper-based device providing visual genetic signatures for precision medicine: application to breast cancer

  • Aikaterini Galaziou
  • Theodore K. ChristopoulosEmail author
  • Penelope C. IoannouEmail author
Paper in Forefront


Genome-wide association studies have demonstrated that combinations of single nucleotide polymorphisms (SNPs), rather than individual SNPs, represent genetic signatures that correlate with heterogeneous and complex diseases. In this context, we developed a paper-based device that provides visual detection of a 10-SNP panel as a genetic signature associated with the risk for breast cancer. The method involves multiplex PCR amplification, multiplex extension reaction of allele-specific primers, without prior purification of the amplified sequences, and, finally, capture and visualization of the extension products within minutes on the device. Detection and monitoring are accomplished either by naked eye or by scanning with a common flatbed scanner. The total assay time is ∼ 2 h. The method was evaluated by using 21 clinical samples of known genotypes. The results were fully concordant with the reference method (sequencing). The proposed method is accurate, simple, rapid, and cost-effective. Visual detection does not require specialized instrumentation or highly trained technical personnel. We anticipate that the proposed device will become a useful analytical tool for precision medicine of breast cancer.


Paper-based analytical devices Precision medicine Genetic signatures 


Compliance with ethical standards

Conflict of interest

The authors declare that they have no competing interests.

Supplementary material

216_2019_1838_MOESM1_ESM.pdf (174 kb)
ESM 1 (PDF 173 kb)


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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Laboratory of Analytical Chemistry, Department of ChemistryAthens UniversityAthensGreece
  2. 2.Department of ChemistryUniversity of PatrasPatrasGreece
  3. 3.Foundation for Research and Technology HellasInstitute of Chemical Engineering Sciences (FORTH/ICE-HT)PatrasGreece

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