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

ly published in the Journal of Clinical Endocrinology & Metabolism.

In a Nov. 1 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 a novel target for future treatment and diagnosis. This type of location-specific strategy is important in both heritable and sporadic cancers.

In another paper published Dec. 1, 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, characterized in part by PTEN mutations, researchers have concluded that a simple blood test may screen for individuals carrying 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.


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Contact: Laura Ambro
ambrol@ccf.org
216-636-5876
Cleveland Clinic
Source:Eurekalert

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