Background: Breast Cancer (BC) is one of the leading malignancies affecting women worldwide. Epigenetic mechanisms regulate gene expression playing an important role in the pathophysiology of cancer. In the present study IGF2 and PTEN genes in AKT pathway were selected for evaluation.
Objective: To investigate the role of methylation and interaction of IGF2 and PTEN and in the pathoetiology of BC.
Methods: Paraffin-embedded archival breast tumor and adjacent normal tissue samples were used for carrying out PCR-based methylation assay, genomic PCR, immunohistochemistry and qRT-PCR.
Results: In-Silico study indicated the absence of hormone responsive elements in the promoters of the selected genes. Methylation results indicated significant loss of methylation in IGF2 exon 9 CpG cluster and significant gain of PTEN promoter methylation in tumors. Immunohistochemistry revealed enhanced cytoplasmic expression of IGF2 protein (p< 0.0001) and decreased nuclear localization of PTEN protein (p=0.0069) in the breast tumors. RT-PCR results indicated an increased IGF2 (p=0.024) and decreased PTEN transcripts (p
Key words: IGF2, PTEN, Breast Cancer
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