@article { author = {}, title = {Screening of 185DelAG, 1014DelGT and 3889DelAG BRCA1 Mutations in Breast Cancer Patients from North-East India}, journal = {Asian Pacific Journal of Cancer Prevention}, volume = {13}, number = {11}, pages = {5871-5874}, year = {2012}, publisher = {West Asia Organization for Cancer Prevention (WAOCP), APOCP's West Asia Chapter.}, issn = {1513-7368}, eissn = {2476-762X}, doi = {}, abstract = {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.}, keywords = {Breast cancer cases,BRCA1,mutations,North-East India}, url = {https://journal.waocp.org/article_27132.html}, eprint = {https://journal.waocp.org/article_27132_49049f2f9a93508e477608b955b0a176.pdf} }