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Mutational analysis of brca 2 gene for SNP detection responsible for Breast cancer

Prasad, M.P, Rekha Sethi

Cancer is due to failures of the mechanisms that usually control the growth and proliferation of cells. Breast cancer is one of the most common malignant tumors contributing to the high mortality of females worldwide. Mutations in two broad classes of genes have been implicated in the onset of cancer: protooncogenes and tumor-suppressor genes. Some breast cancers that cluster in families are associated with inherited mutations in particular genes, such as BRCA1 or BRCA2. The etiology of breast cancer is a complex combination of both environmental and genetic factors, so the determination of genetic polymorphism provided a new way to investigate the etiology of such complex genetic disease. BRCA2 mutations are highly penetrant and polymorphic, resulting in higher risk for breast cancer. It is therefore plausible that the genetic changes in BRCA2 contribute to the disease or the mechanisms associated with the disease. Single nucleotide polymorphisms, frequently called SNPs are the most common type of genetic variation among genes. SNPs act as biological markers, helping to locate genes that are associated with disease. So we took SNP analysis technique to detect the mutation on particular exon of BRCA2 gene. The SNP was detected by Polymerase Chain Reaction (PCR) and restriction fragment length polymorphism (RFLP). We detected SNP in two samples out of twenty two samples.