Ricerc@Sapienza

Breast cancer (BC) in men is a rare disease, but morbidity and mortality in male BC (MBC) patients is a serious concern.
Up to 13% of all MBC cases are due to inherited BRCA1 and, more frequently, BRCA2 mutations.
Although MBC shares some similarities with post-menopausal estrogen receptor (ER)-positive female BC (FBC), increasing evidence indicate that MBC may be a heterogeneous disease, different from FBC.
Transcriptome profiling is a valuable approach to identify and deeply characterize BC subgroups of biological and clinical relevance. Based on transcriptome profiles, differentially expressed genes and pathways between BRCA-positive and BRCA-negative have been identified in FBC.
In this research project, we plan on investigating the transcriptome profile of MBC cases characterized for BRCA mutations to confirm and extend our preliminary data indicating different expression patterns between BRCA and non-BRCA MBCs.
Samples and data from the ongoing Italian multicenter study on MBC, will be used to perform a large collaborative study. Transcriptomic profiling of BRCA-positive and BRCA-negative MBC tumors will be performed by RNA sequencing and pathways/genes of interest emerged from the whole transcriptome analysis will be validate in a large independent series.
The characterization of the transcriptional profile of BRCA and non-BRCA MBCs may allow for the identification of specific molecular subgroups of MBCs and could lead to the identification of subtypes that could provide insight into underlying BRCA pathways.