clinic doc makes strides in cowdon syndrome research

In a Science Codex report titled “Cleveland Clinic researcher identifies 2 new genetic mutations associated with Cowden syndrome,” the post highlights Charis Eng, MD, Ph.D., Chair and Founding Director of the Cleveland Clinic's Lerner Research Institute's Genomic Medicine Institute’s research and discovery that could lead to better management of Cowden syndrome.

"Gene-enabled risk assessment and management begins with the identification of all the genes that, when mutated, account for as many or all the individuals with a particular syndrome, in this case CS," said Dr. Eng. "We started with only PTEN, and now we know that SDHB/D, KLLN, PIK3CA and AKT1 account for CS. Each also brings differing risks of breast, thyroid and other cancers, and so this discovery directly aids genetic counseling and clinical management."
This comes as great news for individuals carrying an increased cancer risk.
“Until now, only four clinical factors were known to predict an inherited PTEN mutation -- and this study's blood test out-predicts them all. Future studies testing thyroid tissue itself may reveal additional biomarkers.”
Read the full blog post here or the American Journal of Human Genetics research paper here.
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