title: Determination of HER2 amplification status on tumour DNA by digital PCR.
abstract: 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.
authors.affiliation: The Breakthrough Breast Cancer Research Centre, Institute of Cancer Research, London, United Kingdom.
authors.forename: Isaac
authors.initials: I
authors.lastname: Garcia-Murillas
authors.affiliation: The Breakthrough Breast Cancer Research Centre, Institute of Cancer Research, London, United Kingdom.
authors.forename: Maryou
authors.initials: M
authors.lastname: Lambros
authors.affiliation: The Breakthrough Breast Cancer Research Centre, Institute of Cancer Research, London, United Kingdom ; Breast Unit, Royal Marsden Hospital, London, United Kingdom.
authors.forename: Nicholas C
authors.initials: NC
authors.lastname: Turner
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002886:Chromosomes, Human, Pair 17; D005784:Gene Amplification; D006801:Humans; D008875:Middle Aged; D060787:Neoplasm Grading; D009367:Neoplasm Staging; D009369:Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D010445:Peptide Elongation Factors / Q000235:genetics; D016133:Polymerase Chain Reaction / Q000379:methods; D018719:Erb-b2 Receptor Tyrosine Kinases / Q000235:genetics*; D017415:Ribonucleoprotein, U5 Small Nuclear; D012680:Sensitivity and Specificity
chemical_list: D010445:Peptide Elongation Factors; D018719:Erb-b2 Receptor Tyrosine Kinases; D017415:Ribonucleoprotein, U5 Small Nuclear; C581608:EFTUD2 protein, human