Association of mutation and low expression of the gene with breast cancer progression.

BACKGROUND

encodes 11-zinc finger protein which is implicated in multiple tumors including the carcinoma of the breast. The Present study investigates the association of mutations and their expression in breast cancer cases.

METHODS

A total of 155 breast cancer and an equal number of adjacent normal tissue samples from 155 breast cancer patients were examined for mutation(s) by PCR-SSCP and automated DNA sequencing. Immunohistochemistry (IHC) method was used to analyze CTCF expression. Molecular findings were statistically analyzed with various clinicopathological features to identify associations of clinical relevance.

RESULTS

Of the total, 16.1% (25/155) cases exhibited mutation in the gene. Missense mutations Gln > His (G > T) in exon 1 and silent mutations Ser > Ser (C > T) in exon 4 of gene were analyzed. A significant association was observed between mutations and some clinicopathological parameters namely menopausal status ( = 0.02) tumor stage ( = 0.03) nodal status ( = 0.03) and expression ( = 0.04). Protein expression analysis showed 42.58% samples having low or no expression (+), 38.0% with moderate (++) expression and 19.35% having high (+++) expression for CTCF. A significant association was found between CTCF protein expression and clinicopathological parameters include histological grade ( = 0.04), tumor stage ( = 0.04), nodal status ( = 0.03) and ER status ( = 0.04).

CONCLUSIONS

The data suggest that mutations leading to its inactivation significantly contribute to the progression of breast cancer.