Identification of a novel breast- and salivary gland-specific, mucin-like gene strongly expressed in normal and tumor human mammary epithelium.

Expression profiling using the public expressed sequence tag (EST) and serial analysis of gene expression (SAGE) databases resulted in the identification of a putative breast-specific mRNA that we have termed small breast epithelial mucin (SBEM). Hybridization analysis performed on 43 normal human tissues revealed that the SBEM gene was only expressed in mammary and salivary glands. Further reverse-transcription PCR analyses confirmed SBEM expression in most of established human breast epithelial cell lines analyzed (7 of 8) but not in cell lines of non-breast origin (0 of 6). SBEM mRNA expression was detected in >90% of invasive ductal carcinomas and correlated with the expression of a previously characterized breast-specific gene, mammaglobin-1 (n = 54; Spearman r = 0.34, P = 0.011). Interestingly, a higher SBEM:mammaglobin-1 ratio was observed in primary tumors with axillary lymph node metastasis than in node-negative tumors (n = 46; Mann-Whitney, P = 0.04). In a subset of 20 primary breast tumors and their matched axillary lymph nodes, a high concordance (Fisher's exact test, P < 0.001) was seen between PCR detection of SBEM mRNA in lymph node tissue and their histopathological status, indicating that SBEM mRNA expression is conserved in nodal metastasis. The SBEM gene is predicted to code for a putative low molecular weight, secreted sialoglycoprotein, potentially useful for the diagnosis of metastatic breast cancer.