Male Breast Cancer (MBC) is a rare and aggressive disease that is associated with genetic factors. Mutations in BRCA1 and BRCA2 account for 10% of all MBC cases suggesting that other genetic factors are involved. The aim of the present study is to screen whole BRCA1 and BRCA2 exons using the Ampliseq BRCA panel in Tunisian MBC patients with family history. Furthermore, we performed exome sequencing using the TruSight One sequencing panel on an early onset BRCA negative patient. We showed that among the 6 MBC patients, only one (MBC-F1) harbored a novel frameshift mutation in exon 2 of the BRCA2 gene (c.17-20delAAGA, p.Lys6Xfs) resulting in a short BRCA2 protein of only 6 amino-acids. We selected 9 rare variants after applying several filter steps on the exome sequencing data. Among these variants, and based on their role in breast carcinogenesis, we retained 6 candidate genes (MSH5, DCC, ERBB3, NOTCH3, DIAPH1, and DNAH11). Further studies are needed to confirm the association of the selected genes with family MBC.

男性乳腺癌（MBC）是一种罕见且具有侵略性的疾病，与遗传因素有关。BRCA1 和 BRCA2的突变 占所有MBC病例的10％，这表明还涉及其他遗传因素。本研究的目的是在具有家族史的突尼斯MBC患者中使用Ampliseq BRCA面板筛查整个BRCA1和BRCA2外显子。此外，我们使用TruSight One测序小组对早发的BRCA阴性患者进行了外显子组测序。我们显示，在这6名MBC患者中，只有一名（MBC-F1）在BRCA2外显子2中携带了一个新的移码突变基因（c.17-20delAAGA，p.Lys6Xfs）导致只有6个氨基酸的短BRCA2蛋白。在外显子组测序数据上应用了多个过滤步骤后，我们选择了9种罕见变体。在这些变体中，并基于它们在乳腺癌发生中的作用，我们保留了6个候选基因（MSH5，DCC，ERBB3，NOTCH3，DIAPH1和DNAH11）。需要进一步的研究来确认所选基因与MBC家族的关联。