Male Breast Cancer: Results of the Application of Multigene Panel Testing to an Italian Cohort of Patients

Gianluca Tedaldi, Michela Tebaldi, Valentina Zampiga, Ilaria Cangini, Francesca Pirini, Elisa Ferracci, Rita Danesi, Valentina Arcangeli, Mila Ravegnani, Giovanni Martinelli, Fabio Falcini, Paola Ulivi, Daniele Calistri

Research output: Contribution to journalArticlepeer-review


Male breast cancer (MBC) is a rare tumor, accounting for less than 1% of all breast cancers. In MBC, genetic predisposition plays an important role; however, only a few studies have investigated in depth the role of genes other than BRCA1 and BRCA2. We performed a Next-Generation Sequencing (NGS) analysis with a panel of 94 cancer predisposition genes on germline DNA from an Italian case series of 70 patients with MBC. Moreover, we searched for large deletions/duplications of BRCA1/2 genes through the Multiplex Ligation-dependent Probe Amplification (MLPA) technique. Through the combination of NGS and MLPA, we identified three pathogenic variants in the BRCA1 gene and six in the BRCA2 gene. Besides these alterations, we found six additional pathogenic/likely-pathogenic variants in PALB2, CHEK2, ATM, RAD51C, BAP1 and EGFR genes. From our study, BRCA1 and BRCA2 emerge as the main genes associated with MBC risk, but also other genes seem to be associated with the disease. Indeed, some of these genes have already been implicated in female breast cancer predisposition, but others are known to be involved in other types of cancer. Consequently, our results suggest that novel genes could be involved in MBC susceptibility, shedding new light on their role in cancer development.

Original languageEnglish
Issue number5
Publication statusPublished - Apr 30 2020

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