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Open AccessArticle

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

1
Biosciences Laboratory, Istituto Scientifico Romagnolo per lo Studio e la Cura dei Tumori (IRST) IRCCS, 47014 Meldola, Italy
2
Biostatistics and Clinical Trials Unit, Istituto Scientifico Romagnolo per lo Studio e la Cura dei Tumori (IRST) IRCCS, 47014 Meldola, Italy
3
Romagna Cancer Registry, Istituto Scientifico Romagnolo per lo Studio e la Cura dei Tumori (IRST) IRCCS, 47014 Meldola, Italy
4
Department of Medical Oncology, Ospedale Infermi, 47923 Rimini, Italy
5
Department of Medical Oncology, Istituto Scientifico Romagnolo per lo Studio e la Cura dei Tumori (IRST) IRCCS, 47014 Meldola, Italy
*
Authors to whom correspondence should be addressed.
Diagnostics 2020, 10(5), 269; https://doi.org/10.3390/diagnostics10050269
Received: 31 March 2020 / Revised: 21 April 2020 / Accepted: 28 April 2020 / Published: 30 April 2020
(This article belongs to the Section Pathology and Molecular Diagnostics)
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. View Full-Text
Keywords: male breast cancer; next-generation sequencing; cancer predisposition; BRCA1/2 genes; hereditary cancer; multigene panel testing; multiplex ligation-dependent probe amplification male breast cancer; next-generation sequencing; cancer predisposition; BRCA1/2 genes; hereditary cancer; multigene panel testing; multiplex ligation-dependent probe amplification
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MDPI and ACS Style

Tedaldi, G.; Tebaldi, M.; Zampiga, V.; Cangini, I.; Pirini, F.; Ferracci, E.; Danesi, R.; Arcangeli, V.; Ravegnani, M.; Martinelli, G.; Falcini, F.; Ulivi, P.; Calistri, D. Male Breast Cancer: Results of the Application of Multigene Panel Testing to an Italian Cohort of Patients. Diagnostics 2020, 10, 269. https://doi.org/10.3390/diagnostics10050269

AMA Style

Tedaldi G, Tebaldi M, Zampiga V, Cangini I, Pirini F, Ferracci E, Danesi R, Arcangeli V, Ravegnani M, Martinelli G, Falcini F, Ulivi P, Calistri D. Male Breast Cancer: Results of the Application of Multigene Panel Testing to an Italian Cohort of Patients. Diagnostics. 2020; 10(5):269. https://doi.org/10.3390/diagnostics10050269

Chicago/Turabian Style

Tedaldi, Gianluca; Tebaldi, Michela; Zampiga, Valentina; Cangini, Ilaria; Pirini, Francesca; Ferracci, Elisa; Danesi, Rita; Arcangeli, Valentina; Ravegnani, Mila; Martinelli, Giovanni; Falcini, Fabio; Ulivi, Paola; Calistri, Daniele. 2020. "Male Breast Cancer: Results of the Application of Multigene Panel Testing to an Italian Cohort of Patients" Diagnostics 10, no. 5: 269. https://doi.org/10.3390/diagnostics10050269

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