Pensabene Matilde, Von Arx Claudia, De Laurentiis Michelino
National Cancer Institute, IRCCS Fondazione G. Pascale, 80131 Naples, Italy.
Cancers (Basel). 2022 Apr 15;14(8):2006. doi: 10.3390/cancers14082006.
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.
男性乳腺癌(MBC)是一种罕见疾病,占所有男性癌症的近1%,在乳腺癌中所占比例不到1%。关于MBC易感性的遗传驱动因素的新数据已经出现,并且不同的风险因素与其发病机制相关。基因改变,如BRCA1/2及其他中/低外显率基因的致病变异,以及非基因风险因素,已被确认为MBC的致病因素。预防和治疗意义可能与检测易感基因的改变有关,特别是BRCA1/2,以及识别不同于女性乳腺癌(FBC)的致癌驱动因素。然而,MBC的获批治疗方法与FBC相同。无论肿瘤家族史是否呈阳性,在MBC的诊断检查中都必须考虑癌症遗传咨询。在此,我们回顾文献,报告有关这种恶性肿瘤的最新数据,特别关注流行病学、遗传和非遗传风险因素。我们介绍了针对MBC患者及其健康的高危家庭成员的癌症遗传咨询观点,重点关注不同的遗传性癌症综合征。