Jessica Mester, M.S. is a certified genetic counselor and coordinator of several PTEN research studies and of the PTEN/Cowden Multidisciplinary Clinic, all housed at the Cleveland Clinic. She is the author or coauthor of 13 peer reviewed original publications describing PTEN-opathies and their implications in clinical and genetic counseling care.
When Overgrowth Bumps Into Cancer: The PTEN-Opathies
Article first published online: 9 APR 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
How to Cite
2013. When overgrowth bumps into cancer: The PTEN-opathies. Am J Med Genet Part C Semin Med Genet 9999:1–8., .
Conflicts of interest: nothing to declare.
- Article first published online: 9 APR 2013
- National Cancer Institute
- American Cancer Society
- Breast Cancer Research Foundation
- Doris Duke Distinguished Clinical Scientist Award
- Department of Defense Breast Cancer Research Program
- William Randolph Hearst Foundations
- Susan G. Komen for the Cure
- Cowden syndrome;
PTEN is a dual-specificity phosphatase and well-known tumor suppressor gene. When functioning properly, it works in its canonical pathway to inhibit AKT/mTOR and MAPK signaling, leading to cell death and growth regulation. PTEN mutations cause dysregulation of these pathways, resulting in cellular proliferation and overgrowth. When germline mutations are present as in patients with PTEN Hamartoma Tumor Syndrome (PHTS), benign and malignant neoplasias occur as well as cerebral overgrowth and neurodevelopmental abnormalities. This review article will summarize recent laboratory and clinical investigations relating to PTEN, highlighting the overgrowth aspects of this syndrome and the molecular drivers behind these key phenotypes. Finally, therapies developed targeted the PI3K/AKT/mTOR pathway for other tumor predisposition syndromes will be discussed. © 2013 Wiley Periodicals, Inc.