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Review
. 2022 Apr 15;14(8):2006.
doi: 10.3390/cancers14082006.

Male Breast Cancer: From Molecular Genetics to Clinical Management

Matilde Pensabene  1 , Claudia Von Arx  1 , Michelino De Laurentiis  1
Affiliations
Review

Male Breast Cancer: From Molecular Genetics to Clinical Management

Matilde Pensabene et al. Cancers (Basel). .

Abstract

MBC is a rare disease accounting for almost 1% of all cancers in men and less than 1% of breast cancer. Emerging data on the genetic drivers of predisposition for MBC are available and different risk factors have been associated with its pathogenesis. Genetic alterations, such as pathogenetic variants in BRCA1/2 and other moderate-/low-penetrance genes, along with non-genetic risk factors, have been recognized as pathogenic factors for MBC. Preventive and therapeutic implications could be related to the detection of alterations in predisposing genes, especially BRCA1/2, and to the identification of oncogenic drivers different from FBC. However, approved treatments for MBC remain the same as FBC. Cancer genetic counseling has to be considered in the diagnostic work-up of MBC with or without positive oncological family history. Here, we review the literature, reporting recent data about this malignancy with a specific focus on epidemiology, and genetic and non-genetic risk factors. We introduce the perspective of cancer genetic counseling for MBC patients and their healthy at-risk family members, with a focus on different hereditary cancer syndromes.

Keywords: BRCA1/2; CHECK2; PALB2; cancer genetic counseling; genetic test; hereditary cancer syndromes; male breast cancer; prevention.

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Conflict of interest statement

The authors declare no conflict of interest. The funders had no role in the design of the study; in the collection, analyses, or interpretation of data; in the writing of the manuscript, or in the decision to publish the results.

Figures

Figure 1
Figure 1
Genetic testing flow chart after a diagnosis of breast cancer (BC) in a male patient.
See this image and copyright information in PMC

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