Somatic Variant Detection in Circulating Cell-Free Plasma DNA of Patients with Pancreatic Neuroendocrine Tumours Abstract #1442

Introduction: Cell-free DNA (cfDNA) as a type of “liquid biopsy” represents an attractive alternative to tissue sampling for detecting tumour-specific changes (circulating tumour DNA; ctDNA).
Aim(s): To investigate if pancreatic NETs (PNETs) release ctDNA for use in disease monitoring.
Materials and methods: We investigated the mutational landscape of 9 PNET tissue samples from 3 cases using exome sequencing. DNA from matched blood served as control. Common mutations in all samples from the same case were identified and prioritised for further plasma validation according to type of mutation, quality of sequence reads and mutant allele frequency.
Conference: 13th Annual ENETS conference 2016 (2016)
Category: Biomarkers
Presenting Author: Dr Christodoulos Pipinikas
Keywords: ctDNA, PNET

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