Somasundaram Kumaravel
Microbiology and Cell biology, Indian Institute of Science, Bangalore, 560 012 India.
Indian J Surg Oncol. 2010 Sep;1(3):245-9. doi: 10.1007/s13193-011-0049-7. Epub 2011 Mar 11.
The breast cancer associated genes BRCA1 and BRCA2 were discovered in 1994 and 1995 respectively. Since then in addition to our understanding how these proteins function in particular reference to DNA repair, enormous amount of knowledge has been gained regarding genetic epidemiology of inherited breast and ovarian cancer, mutation prevalence among different ethnic groups, presence of founder mutations, varying penetrance, genetic testing and potential management options of mutation carriers. This review will focus on the status of understanding of the role of BRCA1 and BRAC2 mutations among Indian women, structure and biology of these two genes, different methods used for mutation detection and different management options available for BRCA1 and BRCA2 mutation carriers.
乳腺癌相关基因BRCA1和BRCA2分别于1994年和1995年被发现。从那时起，除了我们对这些蛋白质如何特别是在DNA修复方面发挥作用的理解之外，我们还获得了关于遗传性乳腺癌和卵巢癌的遗传流行病学、不同种族群体中的突变患病率、奠基者突变的存在、不同的外显率、基因检测以及突变携带者的潜在管理选择等方面的大量知识。本综述将重点关注印度女性中对BRCA1和BRAC2突变作用的理解现状、这两个基因的结构和生物学、用于突变检测的不同方法以及BRCA1和BRCA2突变携带者可用的不同管理选择。
