Copy number variants in ctDNA in non-small lung cancer patients treated with Osimertinib

Master’s project

Laura Stokkebro, BSc

I am a master’s student currently working on my master’s project in molecular medicine in which my project focuses on copy number variation (CNV) in circulating tumour DNA (ctDNA). During my project I will use next generation sequencing (NGS) on plasma samples and buffy coats from lung cancer patients in order to improve the detection of CNVs in ctDNA using the software package CNVkit. CNVkit allows us to characterize and analyse amplified DNA in the form of CNVs using both targeted and off-target reads found during targeted NGS. Furthermore, the clinical implications of CNVs in lung cancer and their association to tumour burden etc. will be determined. The investigated patients have activating EGFR mutations and I will assess the importance of the CNVs on the effect of the anti-EGFR agent osimertinib. Due to the fact that we know that approximately 50% of the patients in the patient cohort have at least one brain metastasis we want to assess whether the presence of one or more CNVs might be associated with an increased risk of having or developing brain metastases.