Associated Genetic Biomarkers

Overview

Gene Location [1]
10q23.31
Pathway
PI3K/AKT1/MTOR
Variant Type
Loss
Gene
PTEN

PTEN Loss is present in 1.16% 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 +

Prostate Adenocarcinoma +

Non-Small Cell Lung Carcinoma +

Endometrial Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Melanoma +

Colorectal Carcinoma +

Medulloblastoma +

Primary Peritoneal Carcinoma +

Squamous Cell Lung Carcinoma +

Fallopian Tube Carcinoma +

Glioblastoma +

Non-Hodgkin Lymphoma +

Urothelial Carcinoma +

Medulloblastoma, Non-WNT/Non-SHH +

Pancreatic Adenocarcinoma +

Small Cell Lung Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Clear Cell Renal Cell Carcinoma +

Gastric Adenocarcinoma +

Osteosarcoma +

Leiomyosarcoma +

Malignant Glioma +

Undifferentiated Pleomorphic Sarcoma +

Soft Tissue Sarcoma +

Hepatocellular Carcinoma +

Cancer +

Central Nervous System Embryonal Neoplasm +

Central Nervous System Ganglioneuroblastoma +

Central Nervous System Neuroblastoma +

Cholangiocarcinoma +

Chondrosarcoma +

Desmoplastic/Nodular Medulloblastoma +

Ewing Sarcoma +

Gastric Carcinoma +

Gastrointestinal Stromal Tumor +

Large Cell/Anaplastic Medulloblastoma +

Medulloblastoma With Extensive Nodularity +

Medulloblastoma, SHH-Activated +

Medulloblastoma, WNT-Activated +

Medulloepithelioma +

Multiple Myeloma +

Pancreatic Carcinoma +

Renal Cell Carcinoma +

Diffuse Glioma +

High Grade Ovarian Serous Adenocarcinoma +

Malignant Ovarian Epithelial Tumor +

Lymphoma +

Malignant Intestinal Neoplasm +

Colorectal Adenocarcinoma +

Biliary Tract Carcinoma +

Malignant Esophagogastric Neoplasm +

Aggressive Systemic Mastocytosis +

Ampulla Of Vater Carcinoma +

Anaplastic Astrocytoma +

Anaplastic Astrocytoma, IDH-Mutant +

Anaplastic Ependymoma +

Anaplastic Oligodendroglioma +

Anaplastic Oligodendroglioma, IDH-Mutant And 1p/19q-Codeleted +

Anaplastic Pleomorphic Xanthoastrocytoma +

Angiosarcoma +

Atypical Teratoid/Rhabdoid Tumor +

B-Cell Non-Hodgkin Lymphoma +

Bannayan Syndrome +

Bile Duct Adenocarcinoma +

Breast Lobular Carcinoma In Situ +

Cervical Carcinoma +

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 +

Esophageal Adenocarcinoma +

Esophageal Carcinoma +

Extraskeletal Osteosarcoma +

Head And Neck Carcinoma +

Hematologic And Lymphocytic Disorder +

Hematopoietic And Lymphoid Malignancy +

Hematopoietic And Lymphoid System Neoplasm +

Hereditary Breast And Ovarian Cancer Syndrome +

High-Grade Glioma, NOS +

Histiocytic And Dendritic Cell Neoplasm +

Intracranial Primitive Neuroectodermal Neoplasm +

Liposarcoma +

Low Grade Ovarian Serous Adenocarcinoma +

Malignant Gastric Neoplasm +

Malignant Mesothelioma +

Malignant Peripheral Nerve Sheath Tumor +

Malignant Small Intestinal Neoplasm +

Mast Cell Leukemia +

Mesothelioma +

Myelodysplastic Syndromes +

Myeloid Neoplasm +

Myxofibrosarcoma +

Myxoid Liposarcoma +

Neuroblastoma +

Oropharyngeal Squamous Cell Carcinoma +

Ovarian Clear Cell Adenocarcinoma +

Pecoma +

Pancreatic Ductal Adenocarcinoma +

Peritoneal Mesothelioma +

Pineoblastoma +

Pleomorphic Liposarcoma +

Pleomorphic Rhabdomyosarcoma +

Proteus Syndrome +

Rhabdomyosarcoma +

Systemic Mastocytosis With An Associated Hematological Neoplasm (SM-AHN) +

Thyroid Gland Carcinoma +

Uveal Melanoma +

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. 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 6. 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.