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Background  It is important to identify biomarkers associated with  BRCA  mutation in women with early breast cancer (BC) to improve early identification of mutation carriers. Thus, in this study, we examined the protein expression of claudin (CLDN) 3, CLDN4, CLDN7, and E-cadherin. Moreover, we analyzed additional histopathological variables and their associations in familial BC.    Methods  Immunohistochemical analysis for CLDNs and E-cadherin was performed on 237 BC cases of three different subsets of BC tumors: 62 from  BRCA1  mutation carriers ,  59 from  BRCA2  mutation carriers, and 116 tumors from patients with  BRCA  wild type (WT) as controls. Histopathological data were also analyzed in the different subgroups. Logistic regression and receiver operation characteristic (ROC) curve were conducted to investigate factors associated with  BRCA  tumors.    Results  Expression of CLDN3 positively correlated with  BRCA -mutated BC. CLDN3 was expressed in 58% of  BRCA1 -mutated tumors compared to only 7% in  BRCA2 -mutated tumors ( p  < 0.001) and 1% in WT tumors ( p  < 0.001). CK5 and CK14 expression were also more likely to arise in  BRCA1  tumors (44 and 16%, respectively) than in the control group (8 and 4%) ( p  < 0.001,  p  = 0.012, respectively). We also found a significantly higher proportion of CK5+ among  BRCA1  tumors (44%) in comparison with  BRCA2 -related BC (8%) ( p  < 0.001). In addition, there was a significant difference between both groups regarding CK14: positive expression in 16 and 5%, respectively ( p  = 0.030). CK5 and CK14 did not differ between the  BRCA2  group and the WT tumors significantly. In a multivariate regression model, expression of CK5 (Odds ratio (OR): 6.46; 95% confidence interval (CI): 1.52–27.43;  p  = 0.011), and CLDN3 (OR: 200.48; 95% CI: 21.52–1867.61;  p  < 0.001) were associated with  BRCA1  mutation status.    Conclusions  Our data suggests that CLDN3, CK5, and CK14 in combination with ER, PR and HER2 are associated with  BRCA1  mutation status.    Electronic supplementary material  The online version of this article (10.1186/s12885-019-5908-6) contains supplementary material, which is available to authorized users.

Association of Cytokeratin 5 and Claudin 3 expression with BRCA1 and BRCA2 germline mutations in women with early breast cancer