Article
Utility of PTEN protein dosage in predicting for underlying germline PTEN mutations among patients presenting with thyroid cancer and Cowden-like phenotypes.
The Journal of clinical endocrinology and metabolism - 1 Dec 2012
Ngeow Joanne, He Xin, Mester Jessica L, Lei Junying, Romigh Todd, Orloff Mohammed S, Milas Mira, Eng Charis
Abstract excerpt
CONTEXT: Thyroid cancer is a major component of Cowden syndrome (CS). CS patients with an underlying PTEN mutation (PTEN(mut+)) have a 70-fold increased risk of developing epithelial thyroid cancer. In contrast, less than 1% of sporadic epithelial thyroid cancer patients carry a germline PTEN mutation. Cost-efficient markers capable of shortlisting thyroid cancers for CS genetic testing would be clinically...
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