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Liquid biopsy for disease monitoring in non-small cell lung cancer: The link be...

Fernandes, G; Sousa, C; Reis, J; Martins, N; Moura, CS; Guimarães, S; Justino, A; Pina, MJ; Magalhães, A; Queiroga, H; Marques, JA; Machado, JC

Introduction: Cell-free DNA (cfDNA) analysis offers a non-invasive method to identify sensitising and resistance mutations in advanced Non-Small Cell Lung Cancer (NSCLC) patients. Next-generation sequencing (NGS) of circulating free DNA (cfDNA) is a valuable tool for mutations detection and disease' s clonal monitoring. Material and methods: An amplicon-based targeted gene NGS panel was used to analyse 101 plas...


How the COVID-19 Pandemic Impacted Oncological Molecular Diagnosis: A Picture f...

Pinto, D; Cirnes, L; Pinto, R; Pina, MJ; Troncone, G; Schmitt, F

Introduction. The Portuguese healthcare system had to adapt at short notice to the COVID-19 pandemic. We implemented workflow changes to our molecular pathology laboratory, a national reference center, to maximize safety and productivity. We assess the impact this situation had on our caseload and what conclusions can be drawn about the wider impact of the pandemic in oncological therapy in Portugal. Material a...


Targeted gene next-generation sequencing panel in patients with advanced lung a...

Fernandes, MGO; Jacob, M; Martins, N; Moura, CS; Guimarães, S; Reis, J; Justino, A; Pina, MJ; Cirnes, L; Sousa, C; Pinto, J; Marques, JA; Machado, JC

Identification of targetable molecular changes is essential for selecting appropriate treatment in patients with advanced lung adenocarcinoma. Methods: In this study, a Sanger sequencing plus Fluorescence In Situ Hybridization (FISH) sequential approach was compared with a Next-Generation Sequencing (NGS)-based approach for the detection of actionable genomic mutations in an experimental cohort (EC) of 117 pati...


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