Abstract
Simple SummaryMale breast cancer is a rare disease, representing around 0.5% of the malignances in men. Although they receive the same treatment as women with breast cancer, there is increasing knowledge showing that both have a distinct genetic background. Pathogenic variants in cancer predisposing genes are a likely etiology for male breast cancer in 4% to 40% of the cases, and it is currently recommended that all men diagnosed with breast cancer be offered genetic counseling followed by genetic testing. Even though, men are still less likely to undergo the test than women for many reasons, which include an unfamiliarity with the issue by health professionals. The purpose of this article is to review the current knowledge of the germline genetic background of male breast cancer and its impact in the management of the patients and their families.Male breast cancer (MBC) is now considered molecularly different from female breast cancer (FBC). Evidence from studies indicates that common genetic and epigenetic features of FBC are not shared with those diagnosed in men. Genetic predisposition is likely to play a significant role in the tumorigenesis of this rare disease. Inherited germline variants in BRCA1 and BRCA2 account for around 2% and 10% of MBC cases, respectively, and the lifetime risk of breast cancer for men harboring BRCA1 and BRCA2 mutations is 1.2% and 6.8%. As for FBC, pathogenic mutations in other breast cancer genes have also been recently associated with an increased risk of MBC, such as PALB2 and CHEK2 mutations. However, while multigene germline panels have been extensively performed for BC female patients, the rarity of MBC has resulted in limited data to allow the understanding of the magnitude of risk and the contribution of recently identified moderate penetrance genes of FBC for MBC predisposition. This review gathers available data about the germline genetic landscape of men affected by breast cancer, estimated risk associated with these genetic variants, and current guidelines for clinical management.
Highlights
IntroductionMale breast cancer (MBC) is a rare disease, corresponding to less than 1% of all cases of breast cancer (BC) and about 0.5% of the malignancies in men in Western countries [1,2,3]
Male breast cancer (MBC) is a rare disease, corresponding to less than 1% of all cases of breast cancer (BC) and about 0.5% of the malignancies in men in Western countries [1,2,3].The approximate lifetime risk of BC for a man is 1:1000, whereas it is 1:8 for a woman [4].Over the past decades, an increase on the incidence of the disease has been observed, partly related to the higher rates of obesity, a well-known risk factor for BC, and to the increasing longevity of the population [5,6,7,8,9]
Patients, all BRCA1/2-negative, and identified a PALB2 Pathogenic variants (PVs) in one of them. This can suggest that men with BC who are negative for BRCA1/2 PVs and have a strong family history of BC should proceed in investigating the status of PALB2 [106]
Summary
Male breast cancer (MBC) is a rare disease, corresponding to less than 1% of all cases of breast cancer (BC) and about 0.5% of the malignancies in men in Western countries [1,2,3]. An increase on the incidence of the disease has been observed, partly related to the higher rates of obesity, a well-known risk factor for BC, and to the increasing longevity of the population [5,6,7,8,9]. This was accompanied by a greater interest from the scientific community in broadening the understanding of the tumorigenesis of BC in men, and it seems to be clear that the vast knowledge generated so far about female breast cancer (FBC) cannot be completely transposed to MBC [10]. Deeper insight on the carcinogenesis of this rare disease may provide patients and their relatives greater access to personalized therapies and individualized surveillance
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