Journal article

Transcriptome of male breast cancer matched with germline profiling reveals novel molecular subtypes with possible clinical relevance

V Zelli, V Silvestri, V Valentini, A Bucalo, P Rizzolo, I Zanna, S Bianchi, A Coppa, G Giannini, L Cortesi, D Calistri, MG Tibiletti, SB Fox, undefined Kconfab, D Palli, L Ottini

Cancers | Published : 2021


Male breast cancer (MBC) is a rare and understudied disease compared with female BC. About 15% of MBCs are associated with germline mutation in BC susceptibility genes, mainly BRCA1/2 and PALB2. Hereditary MBCs are likely to represent a subgroup of tumors with a peculiar phenotype. Here, we performed a whole transcriptome analysis of MBCs characterized for germline mutations in the most relevant BC susceptibility genes in order to identify molecular subtypes with clinical relevance. A series of 63 MBCs, including 16 BRCA2, 6 BRCA1, 2 PALB2, 1 RAD50, and 1 RAD51D germline-mutated cases, was analyzed by RNA-sequencing. Differential expression and hierarchical clustering analyses were performed..

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