BRCA1 and BRCA1 genes and inherited breast and/or ovarian cancer: benefits of genetic testing

Abstract

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.