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Association of mutation and hypermethylation of p21 gene with susceptibility to breast cancer: a study from north India
- Source :
- Molecular biology reports. 41(5)
- Publication Year :
- 2013
-
Abstract
- p21 gene located at chromosome 6p21.2 is a possible tumour suppressor gene involved in the pathogenesis of breast cancer. Both genetic and epigenetic alterations in p21 have been implicated in breast carcinoma. In the present study, our main aim was to study the impact of these two kinds of alterations of p21 gene in Indian female breast cancer patients. A total of 150 female breast cancer patients of north India were screened by PCR-SSCP followed by direct sequencing and methylation specific PCR. Mutational screening of p21 gene revealed significant amount of mutations [32.66 % (49/150)] in exon 2, whereas p21 promoter was found hypermethylated in 42 of 150 (28 %) breast cancer patients in our population. The intriguing feature of the study was the G>T transition (GAG>TAG) at codon 107 and the A>C transition (AGC>CGC) at codon 146 possibly rendering p21 completely ineffective in its anti- proliferative activity. Our results suggest a significant association between the mutational and hypermethylation profile of p21 gene. Therefore, we show for the first time that the significant association of p21 mutation and hypermethylation leads to the complete inactivation of p21 gene in Indian female breast cancer patients. Complete silencing of the p21 gene seems to be the result not only of genetic alterations but also of epigenetic modification.
- Subjects :
- Cyclin-Dependent Kinase Inhibitor p21
Population
Bisulfite sequencing
DNA Mutational Analysis
India
Breast Neoplasms
Biology
Exon
Breast cancer
Genetics
medicine
Humans
Genetic Predisposition to Disease
Epigenetics
education
Promoter Regions, Genetic
Molecular Biology
education.field_of_study
Gene Expression Profiling
General Medicine
Exons
DNA Methylation
medicine.disease
DNA methylation
Mutation
Cancer research
Female
Hypermethylation Profile
Breast carcinoma
Subjects
Details
- ISSN :
- 15734978
- Volume :
- 41
- Issue :
- 5
- Database :
- OpenAIRE
- Journal :
- Molecular biology reports
- Accession number :
- edsair.doi.dedup.....eca53efbffb0c0157179fcc2389104f5