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Genotyping of frequent BRCA1 SNPs in familial breast cancer in Indian population by restriction fragment length polymorphism and sequencing

Rahim Gholipoorfeshkecheh and Selvam Arjunan

Breast cancer is one of the most common malignancies affecting women worldwide. In India, breast cancer is the second most common malignant condition among women. Genetic predisposition for familial early onset of breast cancer accounts for approximately 5-10% of all breast cancers. Mutations in two autosomal dominant genes, BRCA1 and BRCA2 have been linked to familial breast cancer. In the present study 15 Indian families with hereditary breast cancer were studied for BRCA1 mutations using PCR RFLP method. The sequencing result showed that there is a single mutation at the EcoR1 restriction site. So RFLP can be used as to find out mutation or SNP in the gene responsible for the cancer development. Gene testing of BRCA1/2 is available as a routine clinical test for diagnosing hereditary breast/ovarian cancer (HBOC) in the US and other Western countries, while only a few reports have been published concerning the prevalence of BRCA1/2 mutations among Indian people. Thus the present study results indicate that BRCA1 mutation play a vital role in breast cancer but a considerable proportion of the early breast cancer and familial breast cancer may be due to genes other than BRCA1 mutation.

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