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Abstract
Around 1.35 million people of worldwide suffer from breast cancer each year, whereas in India, 1 in every 17 women develops the disease. Mutations of the Breast Cancer 1 (BRCA1) gene account for the majority of breast/ ovarian cancer families. The purpose of study was to provide a prevalence of BRCA1 germline mutations in the North-East Indian population. In relation to the personal and family history with the breast cancer, we found mutations in 6.25% and 12.5% respectively. Three mutations, 185DelAG, 1014DelGT and 3889DelAG, were observed in our North-East Indian patients in exons 2 and 11, resulting in truncation of the BRCA1 protein by forming stop codons individually at amino acid positions 39, 303 and 1265. Our results point to a necessity for an extensive mutation screening study of high risk breast cancer cases in our North-East Indian population, which will provide better decisive medical and surgical preventive options.
Highlights
World-wide epidemiological studies have shown that cancer of the uterine cervix is the second most common malignant disease in women (Ogunmodede et al 2007)
No 28704, USA) and processed for bidirectional Sanger sequencing at Bose Institute, India. This is the first report in BRCAI mutations from breast cancer patients of North-East India
We have designed our experiment to perceive the spectrum of mutation in breast cancer patients as well as the age matched controls
Summary
World-wide epidemiological studies have shown that cancer of the uterine cervix is the second most common malignant disease in women (Ogunmodede et al 2007). The types associated with diseases of the anogenital tract can be classified on the basis of phylogenetic relationship (Zur Hausen, 1996) and of associated frequencies with benign or malignant cervical lesions as high-risk types A common definition of Bioinformatics is the 'Science of organizing and analyzing increasingly complex biological data resulting from modem molecular and biochemical techniques'. The functional roles of Bioinformatics are many This branch of science has developed because of the need to handle staggering amount of biological data generated due to the technical advances in genome sequencing (genomics) and protein identification (proteomics). Bioinformatics employs computational power to catalogue, organize and structure these data into biologically meaningful information.
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