Issue link: https://viewer.e-digitaledition.com/i/111490
+++++++++++++++++++++++++ + +++ + RECENT RESEARCH ��� +++ +++++++++++++++++++++++++ two new genetic Mutations Associated with Cowden Syndrome Identified C leVelanD clinic reSearcH- from the Lerner Research Institute have uncovered two new genes associated with Cowden syndrome (CS) according to a new study, published on December 13, 2012, in the online version of the American Journal of Human Genetics. Cowden syndrome is a difficult-torecognize, under-diagnosed condition that carries high risks of breast, thyroid and other cancers. The discovery of the two new genes ��� led by Charis Eng, MD, PhD, Chair and Founding Director of the Cleveland Clinic���s Lerner Research Institute���s Genomic Medicine 26 erS | Cleveland/Akron/Canton MD News Institute ��� will promote diagnosis and clinical management of the disease, while also assisting in predictive genetic testing and genetic counseling. This research comes on the heels of two new discoveries by Dr. Eng, both related to Cowden syndrome and the PTEN gene, that were recently published in the Journal of Clinical Endocrinology & Metabolism. In a November 2012 paper, Dr. Eng and her team reported on uncovered, untapped, diagnostic and prognostic pathways for cancers related to the compromised PTEN tumor suppressor. This discovery that PTEN disrupts cancer signaling pinpoints ��� MDneWS.coM ��� MarcH -april 2013 a novel target for future treatment and diagnosis. In a nother paper published in December 2012, Dr. Eng and her team identified a screening biomarker in thyroid cancers that revealed inherited predisposition in Cowden syndrome patients. With the increasing incidence of thyroid cancer over the last few years, having a biomarker to screen for an inherited mutated PTEN tumor suppressor gene would accelerate follow-up for affected individuals. After a five-year, multi-center study of patients with Cowden syndrome and Cowden-like syndrome, researchers