Abstract
Clinically, deregulation of PTEN function resulting in reduced PTEN expression and/or activity is implicated in human disease. Cowden syndrome (CS) is an autosomal dominant disorder characterized by benign and malignant tumors. CS-related individual features occur commonly in the general population. Approximately 25 % of patients diagnosed with CS have pathogenic germline PTEN mutations, which increase lifetime risks of breast, thyroid, uterine, renal, and other cancers. PTEN testing and intensive cancer surveillance allow for early detection and treatment of these cancers for mutation-positive patients and their relatives. In this methods chapter, we highlight our protocol for identifying patients at risk of harboring a germline PTEN mutation.
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Acknowledgements
We apologize to authors whose works or relevant references were not cited due to word limitations. American Cancer Society, Breast Cancer Research Foundation, Arthur Blank Foundation, US Department of Defense Breast Cancer Research Program, Doris Duke Charitable Foundation, William Randolph Hearst Foundations, Susan G. Komen for the Cure, Ambrose Monell Foundation, National Cancer Institute, and National Institutes of Health are gratefully acknowledged for funding C.E.’s patient-oriented research over the last 17 years. C.E is the Sondra J. and Stephen R. Hardis Chair of Cancer Genomic Medicine at the Cleveland Clinic and is an American Cancer Society Clinical Research Professor.
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Ngeow, J., Eng, C. (2016). Germline PTEN Mutation Analysis for PTEN Hamartoma Tumor Syndrome. In: Salmena, L., Stambolic, V. (eds) PTEN. Methods in Molecular Biology, vol 1388. Humana Press, New York, NY. https://doi.org/10.1007/978-1-4939-3299-3_6
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DOI: https://doi.org/10.1007/978-1-4939-3299-3_6
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