Gene panel sequencing male breast cancer

Data on specific molecular biomarkers in Male Breast Cancer (MBC) are lacking. Growing evidence indicates that Next Generation Sequencing (NGS) multigene panel testing can be used for the detection of predictive molecular biomarkers, including Tumor Mutational Burden (TMB) and Microsatellite Instability (MSI). In this study, NGS multigene gene panel sequencing, targeting 1.94 Mb of the genome at 523 cancer relevant genes (TruSight Oncology 500, Illumina), was used to identify and characterize somatic variants, Copy Number Variations (CNVs), TMB and MSI, in Formalin-Fixed Paraffin-Embedded (FFPE) MBC samples.