title: Automated PCR detection of BRAF mutations in colorectal adenocarcinoma: a diagnostic test accuracy study.
abstract: BACKGROUND
  Testing for BRAF mutations in colorectal carcinoma (CRC) is important in the screening pathway for Lynch syndrome and is of prognostic value to guide management. This is a diagnostic accuracy study of the Idylla system, a novel and automated alternative PCR system.
  
  
  METHODS
  100 consecutive formalin-fixed, paraffin-embedded CRC resection cases were tested for BRAF mutations using the Idylla automated platform and compared with standard (Cobas) PCR.
  
  
  RESULTS
  The sensitivity of the Idylla BRAF test was 100% and the specificity was 96%. Only one discordant Idylla positive/standard PCR negative result occurred and on Droplet Digital PCR demonstrated a mutation not identified by traditional PCR in this case.
  
  
  CONCLUSIONS
  This study has validated the Idylla system for BRAF testing in CRC and demonstrated a possibly greater sensitivity, in addition to cost effectiveness and shorter turnaround time, when compared with standard PCR.
authors.affiliation: Department of Cellular Pathology, Oxford University Hospitals NHS Trust, Oxford, UK.
authors.forename: Richard
authors.initials: R
authors.lastname: Colling
authors.affiliation: Department of Cellular Pathology, Oxford University Hospitals NHS Trust, Oxford, UK.
authors.forename: Lai Mun
authors.initials: LM
authors.lastname: Wang
authors.affiliation: Department of Cellular Pathology, Oxford University Hospitals NHS Trust, Oxford, UK Nuffield Division of Clinical Laboratory Sciences, University of Oxford, Oxford, UK.
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Soilleux
mesh_terms: D000230:Adenocarcinoma / Q000175:diagnosis* / Q000235:genetics; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D015179:Colorectal Neoplasms / Q000175:diagnosis* / Q000235:genetics; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000175:diagnosis* / Q000235:genetics; D004252:DNA Mutational Analysis / Q000379:methods*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D016133:Polymerase Chain Reaction / Q000379:methods*; D011379:Prognosis; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics*
chemical_list: C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf
keywords: COLORECTAL CANCER; SURGICAL PATHOLOGY; diagnostic screening