Gene Location [1]

PTEN Mutation is present in 5.46% of AACR GENIE cases, with uterine corpus neoplasm, malignant glioma, breast carcinoma, colorectal adenocarcinoma, and non-small cell lung carcinoma having the greatest prevalence [4].

Top Disease Cases with PTEN Mutation

Significance of PTEN Mutation in Diseases

Malignant Solid Tumor +

Breast Carcinoma +

Prostate Adenocarcinoma +

Prostate Carcinoma +

Non-Small Cell Lung Carcinoma +

Ovarian Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Colorectal Carcinoma +

Endometrial Carcinoma +

Non-Hodgkin Lymphoma +

Glioblastoma +

Squamous Cell Lung Carcinoma +

Small Cell Lung Carcinoma +

Melanoma +

Pancreatic Adenocarcinoma +

Fallopian Tube Carcinoma +

Gastric Adenocarcinoma +

Leiomyosarcoma +

Cholangiocarcinoma +

Cancer +

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 +

Gastric Carcinoma +

Urothelial Carcinoma +

Angiosarcoma +

Lymphoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Mesothelioma +

Soft Tissue Sarcoma +

Hepatocellular Carcinoma +

Peritoneal Mesothelioma +

Thymic Carcinoma +

Undifferentiated Pleomorphic Sarcoma +

Histiocytic And Dendritic Cell Neoplasm +

Uveal Melanoma +

Pancreatic Carcinoma +

Osteosarcoma +

Bannayan Syndrome +

Breast Lobular Carcinoma In Situ +

Cowden Syndrome +

Extraskeletal Osteosarcoma +

Hereditary Breast And Ovarian Cancer Syndrome +

Peritoneal Carcinoma +

Pleomorphic Rhabdomyosarcoma +

Proteus Syndrome +


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. Liu X, Wu C, Li C, and Boerwinkle E. dbNSFP v3.0: A one-stop database of functional predictions and annotations for human nonsynonymous and splice site SNVs. Human Mutation. 2015;37:235-241.

Liu X, Jian X, and Boerwinkle E. dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions. Human Mutation. 2011;32:894-899.

4. 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.

5. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.