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]
BZS, GLM2, MMAC1, DEC, CWS1, PTENbeta, TEP1, 10q23del, MHAM, PTEN1

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 Mutation (germline) (7.62%), PTEN Mutation (somatic) (7.62%), PTEN Nonsense (2.23%), and PTEN Frameshift (2.22%) [3].

PTEN GENIE Cases - Top Alterations

Significance of PTEN in Diseases

Malignant Solid Tumor +

Breast Carcinoma +

Prostate Carcinoma +

Ovarian Carcinoma +

Prostate Adenocarcinoma +

Non-Small Cell Lung Carcinoma +

Endometrial Carcinoma +

Colorectal Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Primary Peritoneal Carcinoma +

Squamous Cell Lung Carcinoma +

Melanoma +

Fallopian Tube Carcinoma +

Medulloblastoma +

Glioblastoma +

Small Cell Lung Carcinoma +

Non-Hodgkin Lymphoma +

Pancreatic Adenocarcinoma +

Cancer +

Gastric Adenocarcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Medulloblastoma, Non-WNT/Non-SHH +

Malignant Glioma +

Oropharyngeal Squamous Cell Carcinoma +

Clear Cell Renal Cell Carcinoma +

Leiomyosarcoma +

Gastric Carcinoma +

Urothelial Carcinoma +

Soft Tissue Sarcoma +

Gastrointestinal Stromal Tumor +

Cholangiocarcinoma +

Pancreatic Carcinoma +

Central Nervous System Embryonal Neoplasm +

Central Nervous System Ganglioneuroblastoma +

Central Nervous System Neuroblastoma +

Medulloblastoma, SHH-Activated +

Medulloepithelioma +

Multiple Myeloma +

Osteosarcoma +

Diffuse Glioma +

Anaplastic Astrocytoma +

Cervical Carcinoma +

Renal Cell 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 +

Undifferentiated Pleomorphic Sarcoma +

Malignant Esophagogastric Neoplasm +

B-Cell Non-Hodgkin Lymphoma +

Mesothelioma +

Biliary Tract Carcinoma +

Esophageal Carcinoma +

Bile Duct Adenocarcinoma +

Esophageal Adenocarcinoma +

Lymphoma +

Hepatocellular Carcinoma +

High Grade Ovarian Serous Adenocarcinoma +

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 +

Cowden Syndrome +

Desmoplastic/Nodular Medulloblastoma +

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 +

Ewing Sarcoma +

Extraskeletal Osteosarcoma +

Head And Neck Carcinoma +

Hematopoietic And Lymphoid Malignancy +

Hereditary Breast And Ovarian Cancer Syndrome +

High-Grade Glioma, NOS +

Histiocytic And Dendritic Cell Neoplasm +

Hypopharyngeal Squamous Cell Carcinoma +

Intracranial Primitive Neuroectodermal Neoplasm +

Large Cell/Anaplastic Medulloblastoma +

Laryngeal Squamous Cell Carcinoma +

Low Grade Ovarian Serous Adenocarcinoma +

Malignant Peripheral Nerve Sheath Tumor +

Medulloblastoma With Extensive Nodularity +

Medulloblastoma, WNT-Activated +

Myxofibrosarcoma +

Neuroblastoma +

Oral Cavity Carcinoma +

Ovarian Clear Cell Adenocarcinoma +

Pancreatic Ductal Adenocarcinoma +

Peritoneal Mesothelioma +

Pineoblastoma +

Pleomorphic Liposarcoma +

Pleomorphic Rhabdomyosarcoma +

Proteus Syndrome +

Rhabdomyosarcoma +

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.