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Liquid biopsy for BRAF mutations testing in non-small cell lung cancer: a retrospective study
  1. Antonino Iaccarino,
  2. Pasquale Pisapia,
  3. Francesco Pepe,
  4. Roberta Sgariglia,
  5. Mariantonia Nacchio,
  6. Gianluca Russo,
  7. Gianluca Gragnano,
  8. Caterina De Luca,
  9. Giancarlo Troncone,
  10. Umberto Malapelle
  1. Public Health, University of Naples Federico II, Naples, Italy
  1. Correspondence to Professor Giancarlo Troncone, Public Health, University of Naples Federico II, Naples 80131, Italy; giancarlo.troncone{at}


V-Raf murine sarcoma viral oncogene homolog B (BRAF) gene mutations have recently been approved to select advanced stages non-small cell lung cancer (NSCLC) patients for tyrosine kinase inhibitors treatments. In this setting, liquid biopsy may represent a valuable option for BRAF mutational testing in patients without tissue availability. Here, we reviewed 196 plasma based liquid biopsies analysed by an in-house developed next generation sequencing panel, termed SiRe. On the overall, 6 (3.1%) out of 196 BRAF mutated cases were identified, with an overall median allelic frequency of 3.4%. Exon 15 p.V600E was the most common detected mutation (2/6, 33.3%). Our data highlighted that the SiRe panel is a robust tool for BRAF mutation assessment on circulating tumour DNA. Further investigation is required to develop a diagnostic algorithm to harmonise BRAF testing on tissue and blood in advanced stages NSCLC patients.

  • pathology
  • molecular
  • lung neoplasms
  • biomarkers
  • tumour

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  • Handling editor Runjan Chetty.

  • Twitter @PasqualePisapia, @UmbertoMalapel1

  • Contributors AI, GT and UM conceived the study. PP, FP, RS, MN, GR, GG and CDL performed the experiments and collected the data. AI, PP, FP, GT and UM wrote the original draft. All authors reviewed and approved the final version of the manuscript.

  • Funding This study was funded by: Department of Public Health of the University of Naples Federico II. POR Campania FESR 2014-2020 Progetto 'Sviluppo di Approcci Terapeutici Innovativi per patologie Neoplastiche resistenti ai trattamenti—SATIN'.

  • Competing interests GT reports personal fees (as speaker bureau or advisor) from Roche, MSD, Pfizer and Bayer, unrelated to the current work. UM reports personal fees (as speaker bureau or advisor) from Boehringer Ingelheim, AstraZeneca, Roche, MSD, Amgen and Merck, unrelated to the current work.

  • Patient consent for publication Not required.

  • Ethics approval Written informed consent was obtained from all patients and documented in accordance with the general authorisation to process personal data for scientific research purposes from ‘The Italian Data Protection Authority’ ( All information regarding human material was managed using anonymous numerical codes, and all samples were handled in compliance with the Declaration of Helsinki ( According to the afore-mentioned national guidelines, the double-blinded study did not require an Ethical Committee approval since it did not affect the clinical management of the involved patients’ samples.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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