Biomarkers /
PTEN
Overview
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].
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].
Clinical Trials
Significance of PTEN in Diseases
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.