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Comprehensive genomic profiling of cell-free circulating tumor DNA detects resp...

Silveira, Catarina; Sousa, Ana Carla; Corredeira, Patrícia; Martins, Marta; Sousa, Ana Rita; Da Cruz Paula, Arnaud; Selenica, Pier; Brown, David N.

Analysis of cell-free circulating tumor DNA obtained by liquid biopsy is a non-invasive approach that may provide clinically actionable information when conventional tissue biopsy is inaccessible or infeasible. Here, we followed a patient with hormone receptor-positive and human epidermal growth factor receptor (HER) 2-negative breast cancer who developed bone metastases seven years after mastectomy. We analyze...


Detection and quantification of EGFR T790M mutation in liquid biopsies by dropl...

Silveira, Catarina; Sousa, Ana Carla; Janeiro, André; Malveiro, Sara; Teixeira, Encarnação; Brysch, Eva; Pantarotto, Marcos; Felizardo, Margarida

Background: Liquid biopsy allows the identification of targetable cancer mutations in a minimally invasive manner. In patients with advanced non-small cell lung cancer (NSCLC), droplet digital PCR (ddPCR) is increasingly used to genotype the epidermal growth factor receptor (EGFR) gene in circulating cell-free DNA (cfDNA). However, the sensitivity of this method is still under debate. The aim of this study was ...


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