Associated Genetic Biomarkers
Associated Diseases
Associated Pathways


Location [1]
Protein [2]
Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN
Synonyms [1]
PTEN1, DEC, MHAM, BZS, GLM2, PTENbeta, 10q23del, TEP1, MMAC1, CWS1

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 7.24% of all cancers with endometrial endometrioid adenocarcinoma, conventional glioblastoma multiforme, prostate adenocarcinoma, breast invasive ductal carcinoma, and colon adenocarcinoma having the greatest prevalence of alterations [3].

PTEN GENIE Cases - Top Diseases

The most common alterations in PTEN are PTEN Mutation (5.50%), PTEN Frameshift (1.70%), PTEN Nonsense (1.66%), PTEN Loss (1.72%), and PTEN R130G (0.31%) [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 +

Medulloblastoma +

Endometrial Carcinoma +

Small Cell Lung Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Primary Peritoneal Carcinoma +

Melanoma +

Colorectal Carcinoma +

Squamous Cell Lung Carcinoma +

Fallopian Tube Carcinoma +

Gastric Carcinoma +

Urothelial Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Non-Hodgkin Lymphoma +

Pancreatic Adenocarcinoma +

Medulloblastoma, Non-WNT/Non-SHH +

Glioblastoma +

Osteosarcoma +

Gastric Adenocarcinoma +

Soft Tissue Sarcoma +

Malignant Glioma +

Leiomyosarcoma +

Oropharyngeal Squamous Cell Carcinoma +

Cancer +

Desmoplastic/Nodular Medulloblastoma +

Renal Cell Carcinoma +

Clear Cell Renal Cell Carcinoma +

Head And Neck Carcinoma +

Undifferentiated Pleomorphic Sarcoma +

Central Nervous System Embryonal Neoplasm +

Gastrointestinal Stromal Tumor +

Chondrosarcoma +

Esophageal Carcinoma +

Hepatocellular Carcinoma +

Ewing Sarcoma +

Pancreatic Carcinoma +

Myeloid Neoplasm +

Central Nervous System Ganglioneuroblastoma +

Central Nervous System Neuroblastoma +

Large Cell/Anaplastic Medulloblastoma +

Medulloblastoma With Extensive Nodularity +

Medulloblastoma, SHH-Activated +

Medulloblastoma, WNT-Activated +

Medulloepithelioma +

Multiple Myeloma +

Diffuse Glioma +

Glioma +

Malignant Central Nervous System Neoplasm +

Myxoid Liposarcoma +

Breast Lobular Carcinoma In Situ +

High-Grade Glioma, NOS +

Pleomorphic Rhabdomyosarcoma +

Anaplastic Astrocytoma +

Hypopharyngeal Squamous Cell Carcinoma +

Pancreatic Ductal Adenocarcinoma +

Cervical Carcinoma +

Colon Carcinoma +

Laryngeal Squamous Cell Carcinoma +

Breast Adenocarcinoma +

Colorectal Adenocarcinoma +

Malignant Intestinal Neoplasm +

Pleomorphic Liposarcoma +

Myxofibrosarcoma +

Malignant Small Intestinal Neoplasm +

Thyroid Gland Carcinoma +

Malignant Ovarian Epithelial Tumor +

Oral Cavity Carcinoma +

Oral Cavity Squamous Cell Carcinoma +

Liposarcoma +

Anaplastic Ependymoma +

Malignant Gastric Neoplasm +

Rectal Carcinoma +

Angiosarcoma +

Rhabdomyosarcoma +

Malignant Mesothelioma +

Malignant Peripheral Nerve Sheath Tumor +

Malignant Esophagogastric Neoplasm +

Anaplastic Oligodendroglioma +

Biliary Tract Carcinoma +

Esophageal Adenocarcinoma +

Ampulla Of Vater Carcinoma +

Bile Duct Adenocarcinoma +

Cholangiocarcinoma +

B-Cell Non-Hodgkin Lymphoma +

High Grade Ovarian Serous Adenocarcinoma +

Lymphoma +

Peritoneal Mesothelioma +

Hematologic And Lymphocytic Disorder +

Thymic Carcinoma +

Follicular Lymphoma +

Histiocytic And Dendritic Cell Neoplasm +

Hematopoietic And Lymphoid System Neoplasm +

Hematopoietic And Lymphoid Malignancy +

Neuroblastoma +

Acute Myeloid Leukemia +

Myelodysplastic Syndromes +

Aggressive Systemic Mastocytosis +

Anaplastic Astrocytoma, IDH-Mutant +

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

Anaplastic Pleomorphic Xanthoastrocytoma +

Atypical Teratoid/Rhabdoid Tumor +

Bannayan Syndrome +

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 +

Hereditary Breast And Ovarian Cancer Syndrome +

Intracranial Primitive Neuroectodermal Neoplasm +

Low Grade Ovarian Serous Adenocarcinoma +

Mast Cell Leukemia +

Myelodysplastic Syndrome With Excess Blasts-2 +

Ovarian Clear Cell Adenocarcinoma +

Pecoma +

Pineoblastoma +

Proteus Syndrome +

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


1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015.

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.