Screening of 185DelAG, 1014DelGT and 3889DelAG BRCA1 Mutations in Breast Cancer Patients from North-East India


Around 1.35 million people of worldwide suffer from breast cancer each year, whereas in India, 1 in every 17women 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 theNorth-East Indian population. In relation to the personal and family history with the breast cancer, we foundmutations in 6.25% and 12.5% respectively. Three mutations, 185DelAG, 1014DelGT and 3889DelAG, wereobserved in our North-East Indian patients in exons 2 and 11, resulting in truncation of the BRCA1 protein byforming stop codons individually at amino acid positions 39, 303 and 1265. Our results point to a necessity foran 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.