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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. CONCLUSION: 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.

Original publication

DOI

10.1136/jclinpath-2015-203345

Type

Journal article

Journal

J Clin Pathol

Publication Date

05/2016

Volume

69

Pages

398 - 402

Keywords

COLORECTAL CANCER, SURGICAL PATHOLOGY, diagnostic screening, Adenocarcinoma, Adult, Aged, Aged, 80 and over, Colorectal Neoplasms, Colorectal Neoplasms, Hereditary Nonpolyposis, DNA Mutational Analysis, Female, Humans, Male, Middle Aged, Mutation, Polymerase Chain Reaction, Prognosis, Proto-Oncogene Proteins B-raf