National Institutes of Health (NIH) Researchers Develop a Method to Evaluate Variations Identified in Breast Cancer Susceptibility Genes

NIH -- Using mouse embryonic stem cells, researchers at the National Cancer Institute (NCI), part of the National Institutes of Health, have developed a new method to evaluate which mutations, or changes, in a gene known to increase breast cancer susceptibility, may lead to cancer. The new test, called a functional assay, is more comprehensive and reliable than most current methods. This new test could become a useful and viable tool for genetic counselors, and may have implications beyond cancer. The researchers believe that this test could also be useful for analyzing mutations found in other human disease-related genes. The results of this research will be published in the August 2008 issue of Nature Medicine and appear online July 6, 2008.