Hansa Jagadish, Kannan Ravi, Ghosh Sankar Kumar
Biotechnology Department, Assam University, and Cachar Cancer Hospital and Research Centre, Silchar, India.
Asian Pac J Cancer Prev. 2012;13(11):5871-4. doi: 10.7314/apjcp.2012.13.11.5871.
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.
全球每年约有135万人患乳腺癌，而在印度，每17名女性中就有1人患此病。乳腺癌1（BRCA1）基因的突变是大多数乳腺癌/卵巢癌家族发病的原因。本研究的目的是提供印度东北部人群中BRCA1种系突变的患病率。关于乳腺癌的个人和家族病史，我们分别在6.25%和12.5%的病例中发现了突变。在我们印度东北部的患者中，在外显子2和11中观察到三种突变，即185DelAG、1014DelGT和3889DelAG，分别在氨基酸位置39、303和1265处形成终止密码子，导致BRCA1蛋白截短。我们的结果表明，有必要对印度东北部高危乳腺癌病例进行广泛的突变筛查研究，这将提供更好的决定性医疗和手术预防选择。
