Determination of HER2 amplification status on tumour DNA by digital PCR

PLoS One. 2013 Dec 26;8(12):e83409. doi: 10.1371/journal.pone.0083409. eCollection 2013.


Determination of the presence of HER2 amplification by quantitative PCR has been challenging, in part due to chromosomal instability and identification of a robust a reference region. We assessed the potential of digital PCR for highly accurate assessment of DNA concentration with EFTUD2 as chromosome 17 reference probe. We assessed a HER2:EFTDU2 ratio by digital PCR assay in the microdissected DNA from 18 HER2 amplified and 58 HER2 non-amplified cancers. The HER2:EFTUD2 ratio had high concordance with conventionally defined HER2 status with a sensitivity of 100% (18/18) and a specificity of 98% (57/58). The HER2:EFTUD2 digital PCR assay has potential to accurately assess HER2 amplification status.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Chromosomes, Human, Pair 17
  • Gene Amplification*
  • Humans
  • Middle Aged
  • Neoplasm Grading
  • Neoplasm Staging
  • Neoplasms / diagnosis
  • Neoplasms / genetics*
  • Neoplasms / pathology
  • Peptide Elongation Factors / genetics
  • Polymerase Chain Reaction / methods
  • Receptor, ErbB-2 / genetics*
  • Ribonucleoprotein, U5 Small Nuclear
  • Sensitivity and Specificity


  • EFTUD2 protein, human
  • Peptide Elongation Factors
  • Ribonucleoprotein, U5 Small Nuclear
  • Receptor, ErbB-2

Grant support

Breakthrough Breast Cancer The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.