Associated Genetic Biomarkers
Associated Diseases
Associated Pathways


Gene Location [1]
Variant Type

PTEN Loss is present in 1.72% of AACR GENIE cases, with prostate adenocarcinoma, conventional glioblastoma multiforme, breast invasive ductal carcinoma, colon adenocarcinoma, and glioblastoma having the greatest prevalence [4].

Top Disease Cases with PTEN Loss

Significance of PTEN Loss in Diseases

Malignant Solid Tumor +

Breast Carcinoma +

Prostate Carcinoma +

Ovarian Carcinoma +

Non-Small Cell Lung Carcinoma +

Prostate Adenocarcinoma +

Medulloblastoma +

Endometrial Carcinoma +

Small Cell Lung Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Melanoma +

Colorectal Carcinoma +

Primary Peritoneal Carcinoma +

Squamous Cell Lung Carcinoma +

Fallopian Tube Carcinoma +

Non-Hodgkin Lymphoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Gastric Carcinoma +

Urothelial Carcinoma +

Pancreatic Adenocarcinoma +

Medulloblastoma, Non-WNT/Non-SHH +

Glioblastoma +

Osteosarcoma +

Soft Tissue Sarcoma +

Gastric Adenocarcinoma +

Leiomyosarcoma +

Malignant Glioma +

Undifferentiated Pleomorphic Sarcoma +

Chondrosarcoma +

Cancer +

Hepatocellular Carcinoma +

Ewing Sarcoma +

Head And Neck Carcinoma +

Central Nervous System Embryonal Neoplasm +

Esophageal Carcinoma +

Gastrointestinal Stromal Tumor +

Clear Cell Renal Cell Carcinoma +

Renal Cell Carcinoma +

Pancreatic Carcinoma +

Myeloid Neoplasm +

Central Nervous System Ganglioneuroblastoma +

Central Nervous System Neuroblastoma +

Desmoplastic/Nodular Medulloblastoma +

Large Cell/Anaplastic Medulloblastoma +

Medulloblastoma With Extensive Nodularity +

Medulloblastoma, SHH-Activated +

Medulloblastoma, WNT-Activated +

Medulloepithelioma +

Pleomorphic Rhabdomyosarcoma +

Pancreatic Ductal Adenocarcinoma +

Diffuse Glioma +

Glioma +

Malignant Central Nervous System Neoplasm +

High-Grade Glioma, NOS +

Pleomorphic Liposarcoma +

Malignant Peripheral Nerve Sheath Tumor +

Rhabdomyosarcoma +

Oropharyngeal Squamous Cell Carcinoma +

Thymic Carcinoma +

Breast Adenocarcinoma +

Cervical Carcinoma +

B-Cell Non-Hodgkin Lymphoma +

Malignant Intestinal Neoplasm +

Colorectal Adenocarcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Malignant Ovarian Epithelial Tumor +

Malignant Mesothelioma +

Anaplastic Astrocytoma +

Malignant Small Intestinal Neoplasm +

Follicular Lymphoma +

Hematologic And Lymphocytic Disorder +

Malignant Gastric Neoplasm +

Esophageal Adenocarcinoma +

Malignant Esophagogastric Neoplasm +

Liposarcoma +

Ampulla Of Vater Carcinoma +

Biliary Tract Carcinoma +

Hematopoietic And Lymphoid Malignancy +

Neuroblastoma +

Hematopoietic And Lymphoid System Neoplasm +

Bile Duct Adenocarcinoma +

Cholangiocarcinoma +

Thyroid Gland Carcinoma +

Acute Myeloid Leukemia +

Aggressive Systemic Mastocytosis +

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 +

Classical Hodgkin Lymphoma +

Cowden Syndrome +

Desmoid-Type Fibromatosis +

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 +

Extraskeletal Osteosarcoma +

Hereditary Breast And Ovarian Cancer Syndrome +

Histiocytic And Dendritic Cell Neoplasm +

Intracranial Primitive Neuroectodermal Neoplasm +

Low Grade Ovarian Serous Adenocarcinoma +

Mast Cell Leukemia +

Multiple Myeloma +

Myelodysplastic Syndrome With Excess Blasts-2 +

Myelodysplastic Syndromes +

Myxofibrosarcoma +

Myxoid Liposarcoma +

Ovarian Clear Cell Adenocarcinoma +

Pecoma +

Peritoneal Mesothelioma +

Pineoblastoma +

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.