The team has begun studies aimed at determining the functional significance of individual BRCA1 mutations. They have recently completed a statistical model designed to provide clinicians with prior probability estimates of finding a BRCA1 mutation in specific women, and are expanding the model to include BRCA2. In addition, an analysis is being conducted of several series of breast cancer families in order to determine the incidence of BRCA1 and BRCA2 mutations in minority populations and in women with multiple primary cancers. Finally, they are working collaboratively to assess at risk families, without BRCA1 and BRCA2 mutations, in a search for other breast cancer related genes. Based on work by a number of groups, it is estimated that the lifetime risk of developing breast cancer is between 50 and 80 percent for a woman with a BRCA1 mutation compared with about 12 percent in the general population.
Prevention begins with action.
By identifying women who are at an increased risk of developing breast cancer, we ultimately hope to be able to save lives. With this knowledge, we can continuously monitor for and catch a cancer if and when it initially begins to grow, says Weber. Barbara Weber, M.D., is a Professor of Medicine and Genetics at the University of Pennsylvania and the director of the Cancer Risk Evaluation Program and the Breast Cancer Program at the University of Pennsylvania Cancer Center.