Associated Genetic Biomarkers
Associated Diseases
Associated Pathways

Overview

Location [1]
10q23.31
Pathway
PI3K/AKT1/MTOR
Synonyms [1]
MHAM, BZS, 10q23del, PTEN1, CWS1, GLM2, PTENbeta, TEP1, DEC, MMAC1

PTEN (phosphatase and tensin homolog) is a gene that encodes for phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN. This protein is a lipid/protein phosphatase that plays a role in multiple cell processes, including growth, proliferation, survival, and maintenance of genomic integrity. PTEN acts as a tumor suppressor by negatively regulating the PI3K/AKT signaling pathway. Somatic mutations of PTEN occur in multiple malignancies, including glioma, melanoma, prostate, endometrial, breast, ovarian, renal, and lung cancers. Germline mutations of PTEN lead to inherited hamartoma and Cowden syndrome (for reviews see PMID: 18767981 and PMID: 17827710).

Significance of PTEN in Diseases

Malignant Solid Tumor +

Breast Carcinoma +

Prostate Carcinoma +

Non-Small Cell Lung Carcinoma +

Ovarian Carcinoma +

Prostate Adenocarcinoma +

Medulloblastoma +

Endometrial Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Small Cell Lung Carcinoma +

Colorectal Carcinoma +

Melanoma +

Primary Peritoneal Carcinoma +

Fallopian Tube Carcinoma +

Squamous Cell Lung Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Gastric Carcinoma +

Medulloblastoma, Non-WNT/Non-SHH +

Non-Hodgkin Lymphoma +

Pancreatic Adenocarcinoma +

Urothelial Carcinoma +

Gastric Adenocarcinoma +

Glioblastoma +

Osteosarcoma +

Soft Tissue Sarcoma +

Cancer +

Central Nervous System Embryonal Neoplasm +

Central Nervous System Ganglioneuroblastoma +

Central Nervous System Neuroblastoma +

Chondrosarcoma +

Clear Cell Renal Cell Carcinoma +

Desmoplastic/Nodular Medulloblastoma +

Esophageal Carcinoma +

Ewing Sarcoma +

Gastrointestinal Stromal Tumor +

Head And Neck Carcinoma +

Hepatocellular Carcinoma +

Large Cell/Anaplastic Medulloblastoma +

Leiomyosarcoma +

Malignant Glioma +

Medulloblastoma With Extensive Nodularity +

Medulloblastoma, SHH-Activated +

Medulloblastoma, WNT-Activated +

Medulloepithelioma +

Multiple Myeloma +

Myeloid Neoplasm +

Oropharyngeal Squamous Cell Carcinoma +

Pancreatic Carcinoma +

Renal Cell Carcinoma +

Undifferentiated Pleomorphic Sarcoma +

Acute Myeloid Leukemia +

Aggressive Systemic Mastocytosis +

Ampulla Of Vater Carcinoma +

Anaplastic Astrocytoma +

Anaplastic Astrocytoma, IDH-Mutant +

Anaplastic Ependymoma +

Anaplastic Oligodendroglioma +

Anaplastic Oligodendroglioma, IDH-Mutant And 1p/19q-Codeleted +

Anaplastic Pleomorphic Xanthoastrocytoma +

Angiosarcoma +

Atypical Teratoid/Rhabdoid Tumor +

B-Cell Non-Hodgkin Lymphoma +

Bannayan Syndrome +

Bile Duct Adenocarcinoma +

Biliary Tract Carcinoma +

Breast Adenocarcinoma +

Breast Lobular Carcinoma In Situ +

Cervical Carcinoma +

Cholangiocarcinoma +

Classical Hodgkin Lymphoma +

Colon Carcinoma +

Colorectal Adenocarcinoma +

Cowden Syndrome +

Desmoid-Type Fibromatosis +

Diffuse Glioma +

Diffuse Midline Glioma, H3 K27M-Mutant +

Embryonal Tumor With Multilayered Rosettes, C19MC-Altered +

Embryonal Tumor With Multilayered Rosettes, Not Otherwise Specified +

Ependymoma +

Ependymoma, RELA Fusion-Positive +

Esophageal Adenocarcinoma +

Extraskeletal Osteosarcoma +

Follicular Lymphoma +

Glioma +

Hematologic And Lymphocytic Disorder +

Hematopoietic And Lymphoid Malignancy +

Hematopoietic And Lymphoid System Neoplasm +

Hereditary Breast And Ovarian Cancer Syndrome +

High Grade Ovarian Serous Adenocarcinoma +

High-Grade Glioma, NOS +

Histiocytic And Dendritic Cell Neoplasm +

Hypopharyngeal Squamous Cell Carcinoma +

Intracranial Primitive Neuroectodermal Neoplasm +

Laryngeal Squamous Cell Carcinoma +

Liposarcoma +

Low Grade Ovarian Serous Adenocarcinoma +

Lymphoma +

Malignant Central Nervous System Neoplasm +

Malignant Esophagogastric Neoplasm +

Malignant Gastric Neoplasm +

Malignant Intestinal Neoplasm +

Malignant Mesothelioma +

Malignant Ovarian Epithelial Tumor +

Malignant Peripheral Nerve Sheath Tumor +

Malignant Small Intestinal Neoplasm +

Mast Cell Leukemia +

Myelodysplastic Syndrome With Excess Blasts-2 +

Myelodysplastic Syndromes +

Myxofibrosarcoma +

Myxoid Liposarcoma +

Neuroblastoma +

Oral Cavity Carcinoma +

Oral Cavity Squamous Cell Carcinoma +

Ovarian Clear Cell Adenocarcinoma +

Pecoma +

Pancreatic Ductal Adenocarcinoma +

Peritoneal Mesothelioma +

Pineoblastoma +

Pleomorphic Liposarcoma +

Pleomorphic Rhabdomyosarcoma +

Proteus Syndrome +

Rectal Carcinoma +

Rhabdomyosarcoma +

Systemic Mastocytosis With An Associated Hematological Neoplasm (SM-AHN) +

Thymic Carcinoma +

Thyroid Gland Carcinoma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.