Considering the relevance of BRCA2 in MBC, we have performed a population-based case-control study to investigate the role of BRCA2 N372H variant on BC risk in men, comparing a series of MBC, characterized for BRCA1 and BRCA2 mutation status, with a control group from the same area of Central Italy (Florence, Tuscany). This evidence concerns the gene BRCA2 and breast cancer.