Associated Genetic Biomarkers
Associated Diseases
Associated Pathways


Gene Location [1]

PTEN Mutation is present in 5.50% of AACR GENIE cases, with endometrial endometrioid adenocarcinoma, conventional glioblastoma multiforme, breast invasive ductal carcinoma, colon adenocarcinoma, and glioblastoma having the greatest prevalence [4].

Top Disease Cases with PTEN Mutation

Significance of PTEN Mutation in Diseases

Malignant Solid Tumor +

Breast Carcinoma +

Prostate Carcinoma +

Ovarian Carcinoma +

Non-Small Cell Lung Carcinoma +

Prostate Adenocarcinoma +

Small Cell Lung Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Endometrial Carcinoma +

Primary Peritoneal Carcinoma +

Colorectal Carcinoma +

Squamous Cell Lung Carcinoma +

Melanoma +

Fallopian Tube Carcinoma +

Urothelial Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Non-Hodgkin Lymphoma +

Pancreatic Adenocarcinoma +

Gastric Adenocarcinoma +

Gastric Carcinoma +

Soft Tissue Sarcoma +

Osteosarcoma +

Glioblastoma +

Renal Cell Carcinoma +

Clear Cell Renal Cell Carcinoma +

Head And Neck Carcinoma +

Leiomyosarcoma +

Gastrointestinal Stromal Tumor +

Undifferentiated Pleomorphic Sarcoma +

Esophageal Carcinoma +

Hepatocellular Carcinoma +

Pancreatic Carcinoma +

Ewing Sarcoma +

Myeloid Neoplasm +

Multiple Myeloma +

Malignant Glioma +

Glioma +

Malignant Central Nervous System Neoplasm +

Breast Lobular Carcinoma In Situ +

Oropharyngeal Squamous Cell Carcinoma +

Cervical Carcinoma +

Cancer +

Breast Adenocarcinoma +

Colorectal Adenocarcinoma +

Malignant Intestinal Neoplasm +

Pleomorphic Liposarcoma +

Myxofibrosarcoma +

Malignant Small Intestinal Neoplasm +

Thyroid Gland Carcinoma +

Medulloblastoma +

Malignant Ovarian Epithelial Tumor +

Liposarcoma +

Malignant Gastric Neoplasm +

Pancreatic Ductal Adenocarcinoma +

Angiosarcoma +

Rhabdomyosarcoma +

Malignant Mesothelioma +

Malignant Esophagogastric Neoplasm +

Malignant Peripheral Nerve Sheath Tumor +

Biliary Tract Carcinoma +

Esophageal Adenocarcinoma +

Ampulla Of Vater Carcinoma +

Bile Duct Adenocarcinoma +

Cholangiocarcinoma +

B-Cell Non-Hodgkin Lymphoma +

High Grade Ovarian Serous Adenocarcinoma +

Lymphoma +

Chondrosarcoma +

Peritoneal Mesothelioma +

Hematologic And Lymphocytic Disorder +

Thymic Carcinoma +

Histiocytic And Dendritic Cell Neoplasm +

Hematopoietic And Lymphoid System Neoplasm +

Hematopoietic And Lymphoid Malignancy +

Acute Myeloid Leukemia +

Myelodysplastic Syndromes +

Aggressive Systemic Mastocytosis +

Bannayan Syndrome +

Classical Hodgkin Lymphoma +

Cowden Syndrome +

Desmoid-Type Fibromatosis +

Extraskeletal Osteosarcoma +

Hereditary Breast And Ovarian Cancer Syndrome +

Low Grade Ovarian Serous Adenocarcinoma +

Mast Cell Leukemia +

Myelodysplastic Syndrome With Excess Blasts-2 +

Neuroblastoma +

Ovarian Clear Cell Adenocarcinoma +

Pecoma +

Pleomorphic Rhabdomyosarcoma +

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. 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 8. 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.