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Monday, August 11, 2014

Next Breast Cancer Genes Identified and Coded

The area of genetic testing is the ultimate game changer for medical care.But as an article about genetic testing in the New York times points out, the game is changing rapidly.  It's getting so advanced, that many women who were tested merely months ago may actually find tests they need that they did not have. There is about a 10% chance that you will have a test positive for another gene when you thought you were at risk for breast cancer genes being positive.  Helping patients decide about testing and understand their results has become one of the biggest challenges of medical care. Working off the hypothesis that almost all cancer is ultimately mediated through changes in our genes, researchers have decided to classify genetic changes as Categories I, II, and III. Category I genes are the most strongly associated with the diseases they have been linked to and Category III genes associated with either the disease only slightly, or perhaps we just don't understand them well enough to be categorized as more significant.  This can help decide testing as perhaps it is not necessary to get a test that will not change your clinical management. This is different from the typical categories we talk about which are based on cell types and cell behavior. Dutch researchers found another gene that is rare, but can also lead to increased cancer incidence as does the BRCA1 and BRCA2 genes. In a recent report the new gene was revealed. This gene is the genetic defect that leads to many cancers and cancers at a young age, so in the carriers of this gene earlier mammograms are going to be recommended. The gene is called multiple endocrine neoplasia type 1 (MEN1) is caused by gene defects MEN1 tumor-suppressor gene and has previously been identified as the cause of various GI and endocrine tumors. Another genetic defect has been reported to be associated and that is called PALB2 gene. The top researcher in onclogy have begun to talk about Next Generation Sequencing (NGS) is a method of genomic analysis that can be used to detect mutations in select genes that predispose women to hereditary breast and/or ovarian cancer, and this panel is much more extensive than the panels used in the past looking primarily at BRCA1/2 testing. NGS panel testing may be an answer for the over 80 percent of those who undergo testing for mutations in the major breast cancer susceptibility genes  receive a negative, or uninformative result to their tests. The NGS tests used are expanding all the time, from the original 21 tests that were offered when this technology was invented. Cancer prevention involves more than just living well, eating well, and exercising well, and getting physical examinations it means working closely with your primary care physician to understands your personal and family based risks and how to lower them. Genetic testing may in fact be right for you.How to learn more about that testing and where to find the tests that you need, patients and their providers both can go to GeneTest.org

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