Associated Genetic Biomarkers
Associated Diseases
Associated Pathways

Overview

Location [1]
10q23.31
Pathway
PI3K/AKT1/MTOR
Protein [2]
Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN
Synonyms [1]
PTEN1, DEC, TEP1, BZS, GLM2, 10q23del, MHAM, CWS1, MMAC1, PTENbeta

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).

PTEN is altered in 6.04% of all cancers with endometrial endometrioid adenocarcinoma, conventional glioblastoma multiforme, breast invasive ductal carcinoma, prostate adenocarcinoma, and colon adenocarcinoma having the greatest prevalence of alterations [3].

PTEN GENIE Cases - Top Diseases

The most common alterations in PTEN are PTEN Mutation (7.62%), PTEN Nonsense (2.23%), PTEN Frameshift (2.22%), PTEN Loss (1.82%), and PTEN T319* (0.32%) [3].

PTEN GENIE Cases - Top Alterations

Significance of PTEN in Diseases

Malignant Solid Tumor +

Breast Carcinoma +

Prostate Carcinoma +

Prostate Adenocarcinoma +

Ovarian Carcinoma +

Non-Small Cell Lung Carcinoma +

Endometrial Carcinoma +

Colorectal Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Melanoma +

Medulloblastoma +

Primary Peritoneal Carcinoma +

Squamous Cell Lung Carcinoma +

Small Cell Lung Carcinoma +

Fallopian Tube Carcinoma +

Glioblastoma +

Urothelial Carcinoma +

Non-Hodgkin Lymphoma +

Pancreatic Adenocarcinoma +

Medulloblastoma, Non-WNT/Non-SHH +

Clear Cell Renal Cell Carcinoma +

Gastric Adenocarcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Osteosarcoma +

Malignant Glioma +

Oropharyngeal Squamous Cell Carcinoma +

Cancer +

Renal Cell Carcinoma +

Leiomyosarcoma +

Gastric Carcinoma +

Undifferentiated Pleomorphic Sarcoma +

Soft Tissue Sarcoma +

Gastrointestinal Stromal Tumor +

Cholangiocarcinoma +

Hepatocellular Carcinoma +

Pancreatic Carcinoma +

Central Nervous System Embryonal Neoplasm +

Central Nervous System Ganglioneuroblastoma +

Central Nervous System Neuroblastoma +

Chondrosarcoma +

Desmoplastic/Nodular Medulloblastoma +

Ewing Sarcoma +

Large Cell/Anaplastic Medulloblastoma +

Medulloblastoma With Extensive Nodularity +

Medulloblastoma, SHH-Activated +

Medulloblastoma, WNT-Activated +

Medulloepithelioma +

Multiple Myeloma +

Diffuse Glioma +

Myxoid Liposarcoma +

Anaplastic Astrocytoma +

Cervical Carcinoma +

Colorectal Adenocarcinoma +

Malignant Intestinal Neoplasm +

Malignant Small Intestinal Neoplasm +

Thyroid Gland Carcinoma +

Oral Cavity Squamous Cell Carcinoma +

Malignant Gastric Neoplasm +

Malignant Ovarian Epithelial Tumor +

Malignant Esophagogastric Neoplasm +

B-Cell Non-Hodgkin Lymphoma +

Malignant Mesothelioma +

Mesothelioma +

Liposarcoma +

Biliary Tract Carcinoma +

Esophageal Carcinoma +

Bile Duct Adenocarcinoma +

Esophageal Adenocarcinoma +

Lymphoma +

High Grade Ovarian Serous Adenocarcinoma +

Myeloid Neoplasm +

Aggressive Systemic Mastocytosis +

Ampulla Of Vater Carcinoma +

Anaplastic Astrocytoma, IDH-Mutant +

Anaplastic Ependymoma +

Anaplastic Oligodendroglioma +

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

Anaplastic Pleomorphic Xanthoastrocytoma +

Angiosarcoma +

Atypical Teratoid/Rhabdoid Tumor +

Bannayan Syndrome +

Breast Lobular Carcinoma In Situ +

Classical Hodgkin Lymphoma +

Cowden Syndrome +

Desmoid-Type Fibromatosis +

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 +

Extraskeletal Osteosarcoma +

Head And Neck Carcinoma +

Hematologic And Lymphocytic Disorder +

Hematopoietic And Lymphoid Malignancy +

Hematopoietic And Lymphoid System Neoplasm +

Hereditary Breast And Ovarian Cancer Syndrome +

High-Grade Glioma, NOS +

Histiocytic And Dendritic Cell Neoplasm +

Hypopharyngeal Squamous Cell Carcinoma +

Intracranial Primitive Neuroectodermal Neoplasm +

Laryngeal Squamous Cell Carcinoma +

Low Grade Ovarian Serous Adenocarcinoma +

Malignant Peripheral Nerve Sheath Tumor +

Mast Cell Leukemia +

Myelodysplastic Syndromes +

Myxofibrosarcoma +

Neuroblastoma +

Oral Cavity Carcinoma +

Ovarian Clear Cell Adenocarcinoma +

Pecoma +

Pancreatic Ductal Adenocarcinoma +

Peritoneal Mesothelioma +

Pineoblastoma +

Pleomorphic Liposarcoma +

Pleomorphic Rhabdomyosarcoma +

Proteus Syndrome +

Rhabdomyosarcoma +

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

Thymic Carcinoma +

Uveal Melanoma +

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 6. 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.