期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
卷 163C, 期 2, 页码 114-121出版社
WILEY-BLACKWELL
DOI: 10.1002/ajmg.c.31364
关键词
PTEN; Cowden syndrome; AKT; PIK3CA; PI3K; mTOR
资金
- 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
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. (c) 2013 Wiley Periodicals, Inc.
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