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2018/03/26

Pre-PCR processing of FFPE samples leads to discrepancies in BRAF and EGFR mutation detection

<Title>

Variation in pre-PCR processing of FFPE samples leads to discrepancies in BRAF and EGFR mutation detection: a diagnostic RING trial

<Abstract>

Mutation detection accuracy has been described extensively; however, it is surprising that pre-PCR processing of formalin-fixed paraffin-embedded (FFPE) samples has not been systematically assessed in clinical context. We designed a RING trial to (i) investigate pre-PCR variability, (ii) correlate pre-PCR variation with EGFR/BRAF mutation testing accuracy and (iii) investigate causes for observed variation.

 

<Conclusion>

In this study, we provide evidence demonstrating that variation in pre-PCR steps is prevalent and may detrimentally affect the patient’s ability to receive critical therapy. We provide recommendations for preanalytical workflow optimisation that may reduce errors in down-stream sequencing and for next-generation sequencing library generation.

 

<Authors>

Joshua R Kapp, Tim Diss, James Spicer, Michael Gandy, Iris Schrijver, Lawrence J Jennings, Marilyn M Li, Gregory J Tsongalis, David Gonzalez de Castro,
Julia A Bridge, Andrew Wallace, Joshua L Deignan, Sandra Hing, Rachel Butler, Eldo Verghese, Gary J Latham, Rifat A Hamoudi

<Reference>

Kapp JR, et al. J Clin Pathol 2015;68:111–118. doi:10.1136/jclinpath-2014-202644

 

 

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