Abstract
Introduction: Endometrial cancer is one of the most common cancers in women worldwide. Theunderlying cause of endometrial tumorigenesis remains elusive. Several genetic and epigeneticalterations are known to be involved in the carcinogenesis of endometrial carcinoma. One importantand early epigenetic alteration that is attributed to endometrial carcinoma is the aberrant promoterhypermethylation of gene promoters. In this study, we have assessed the aberrant promoterhypermethylation of APC and BRCA1 in 78 endometrial cancer samples. Methods: Histologicallyconfirmed tumour tissue samples were obtained post-surgery and DNA was extracted. The DNA wassubjected to sodium bisulfite conversion and used as a template for a polymerase chain reaction.The PCR was performed using a nested PCR followed by methylation specific PCR. Results: A33.33% and 46.15% methylation frequency was observed for APC and BRCA1 genes respectively. Ahigher percentage of methylation was observed in stage IV for APC (66.66%) and in stage II forBRCA1 (88.88%). Conclusion: Aberrant promoter hypermethylation is an early event inendometrial carcinoma and can serve as a useful molecular marker for diagnosis and prognosis ofthe disease along with existing screening modalities.
Highlights
Endometrial cancer is one of the most common cancers in women worldwide
The representative gel image has been depicted in fig 1 and the association of methylation frequency with clinicopathologic parameters have been summarized in table 4
Promoter hypermethylation of Breast cancer susceptibility gene 1 (BRCA1) gene: 36 of the samples analyzed reported methylation for the BRCA1 gene accounting for a methylation frequency of 46.15%
Summary
Endometrial cancer is one of the most common cancers in women worldwide. The underlying cause of endometrial tumorigenesis remains elusive. One important and early epigenetic alteration that is attributed to endometrial carcinoma is the aberrant promoter hypermethylation of gene promoters. We have assessed the aberrant promoter hypermethylation of APC and BRCA1 in 78 endometrial cancer samples. Though the underlying mechanism of tumorigenesis in the endometrium is not fully understood several data suggest the role of various genetic and epigenetic alterations in the process of endometrial carcinogenesis. During the process of tumor initiation and progression various tumor suppressor genes (TSG) are known to be transcriptionally silenced by the addition of a methyl group to the cytosine residues that reside in the CpG islands of the promoter region. This addition of methyl group to the cytosine prevents the interaction of transcription machinery with the promoter and thereby renders the gene silent (turned off) [4-6]
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callMore From: International Journal of Medical Research & Review
Disclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
