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]
DEC, PTEN1, GLM2, BZS, MHAM, TEP1, 10q23del, 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 7.17% of all cancers with uterine corpus neoplasm, malignant glioma, breast carcinoma, colorectal adenocarcinoma, and prostate cancer 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 Adenocarcinoma +

Non-Small Cell Lung Carcinoma +

Prostate Carcinoma +

Ovarian Carcinoma +

Endometrial Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Colorectal Carcinoma +

Melanoma +

Non-Hodgkin Lymphoma +

Glioblastoma +

Squamous Cell Lung Carcinoma +

Small Cell Lung Carcinoma +

Pancreatic Adenocarcinoma +

Cancer +

Fallopian Tube Carcinoma +

Leiomyosarcoma +

Gastric Adenocarcinoma +

Cholangiocarcinoma +

Multiple Myeloma +

Primary Peritoneal Carcinoma +

Malignant Glioma +

Myxofibrosarcoma +

B-Cell Non-Hodgkin Lymphoma +

Clear Cell Renal Cell Carcinoma +

Renal Cell Carcinoma +

Pancreatic Ductal Adenocarcinoma +

Pleomorphic Liposarcoma +

Thyroid Gland Carcinoma +

Malignant Peripheral Nerve Sheath Tumor +

Undifferentiated Pleomorphic Sarcoma +

Gastric Carcinoma +

Urothelial Carcinoma +

Angiosarcoma +

Soft Tissue Sarcoma +

Lymphoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Mesothelioma +

Hepatocellular Carcinoma +

Peritoneal Mesothelioma +

Osteosarcoma +

Thymic Carcinoma +

Histiocytic And Dendritic Cell Neoplasm +

Uveal Melanoma +

Pancreatic Carcinoma +

Bannayan Syndrome +

Breast Lobular Carcinoma In Situ +

Cowden Syndrome +

Extraskeletal Osteosarcoma +

Hereditary Breast And Ovarian Cancer Syndrome +

Peritoneal Carcinoma +

Pleomorphic Rhabdomyosarcoma +

Proteus Syndrome +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20170629. 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 4. 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.