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Cleveland Clinic researcher identifies 2 new genetic mutations associated with Cowden syndrome
Date:12/13/2012

Thursday, December 13, 2012, Cleveland: Cleveland Clinic researchers from the Lerner Research Institute have uncovered two new genes associated with Cowden syndrome (CS) according to a new study, published today in the online version of the American Journal of Human Genetics.

Cowden syndrome is a difficult-to-recognize, 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, Ph.D., Chair and Founding Director of the Cleveland Clinic's Lerner Research Institute's Genomic Medicine Institute will promote diagnosis and clinical management of the disease, while also assisting in predictive genetic testing and genetic counseling.

Researchers performed genetic sequencing on DNA from individuals with CS who have none of the known genetic alterations associated with CS. State-of-the-art technology was used to identify a high prevalence of mutations in the PIK3CA and AKT1 genes, which are involved in cancer-related signaling pathways.

In tracing the root causes of CS, Dr. Eng has previously identified many genetic alterations that promote the disease, beginning with mutations in the first gene ever to be associated with CS, the tumor suppressor, PTEN, along with the SDHB/D and KLLN genes, identifying their connection with PTEN in cancer.

"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 research comes on the heels of two new discoveries by Dr. Eng, both related to Cowden syndrome and the PTEN gene, that were recent
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Contact: Laura Ambro
ambrol@ccf.org
216-636-5876
Cleveland Clinic
Source:Eurekalert

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