Abstract
<i>Background</i>: 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. <i>Material Methods</i>: 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. <i>Results</i>: 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. <i>Conclusion</i>: 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.
Highlights
The breasts are external symbol of beauty and womanhood in women; cancer of the breast is responsible for the death of millions of women worldwide every year
Our study showed methylated BRCA1association of promoter methylation between breast cancer and histologically confirmed normal controleswas found to be significant which was supported bythe findings of Catteau et al, 1999; Esteller et al, 2008; Niwa et al, 2000; Rice et al, 2000, but our results are incontradictic with the findings of Knudson et al, 1971, Knudson et al, 1985 as thy showed in their results that BRCA1 promoter hypermethylation is not involved in the breast cancer
Our study supports the findings of Hanahan D. et al, 2000 as they studied that tumour of breast cancer patients showed promoter hypermethylation of BRCA1 gene, these results were similar to our studied reults, that in BRCA1 gene in breast cancer patients, there is an altrationsof methylation pattern, which may the causative agent for the breast cancer and is in support of the findings of Friedman et al, 1994; Easton 1997, Castilla et al, 1994 they studied in their study that alterations in BRCA1 have been estimated to be responsible for about 50% of familial breast cancer
Summary
The breasts are external symbol of beauty and womanhood in women; cancer of the breast is responsible for the death of millions of women worldwide every year. Malignancy of the breast is one of the commonest causes of death in women aged between 40-45 years (Showkat, et al, 2013). 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). 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
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