BRCA1 Promoter Hypermethylationas an Early Diagnostic Tool for Breast Cancer

Background: Breast cancer is the second most common cancer among women after cervical cancer. As Cancer development and progression is dictated by chain of alterations in genes. Over the past few years, the Kashmir valley has witnessed a tremendous increase in the incidence of breast cancer in its unexplored ethnic population. The aim of present study was to find out the role of Promoter Hypermethylation of BRCA1 gene in Breast cancer patients. Material Methods: The DNA was extracted from all the samples and was modified using bisulphite modification kit. Methylation-specific polymerase chain reaction was used for the analysis of the promoter hypermethylation status of BRCA1 gene. Results: The epigenetic analysis revealed that unlike other high risk regions, Kashmiri population has a different promoterhypermethylation profile of BRCA1 gene as 68% of the cases showed BRCA1 promoter hypermethylation in comparison to 20% of the normal cases, the association of promoter hypermethylation with breast cancer and normal cases was found to be significant (P=0.0006). The frequency of BRCA1 promoter hypermethylation was found to be certainly higher in Stage III/IV (75%) compared to Stage I/ II (62%) but the difference was not statistically significant(P =0.0674). The frequency of promoter methylation was foundhigher (77.1%) in age group above 60- years) than ages below 60 years. Conclusion: These results suggest that BRCA1 aberrant promoter hypermethylation in Kashmiri population contributes to the process of carcinogenesis in breast cancer and is reportedly one of the commonest epigenetic changes in the development of breast cancer.