Gene Location [1]
Variant Type

PTEN Loss is present in 1.30% of AACR GENIE cases, with prostate cancer, breast carcinoma, malignant glioma, sarcoma, and colorectal adenocarcinoma having the greatest prevalence [4].

Top Disease Cases with PTEN Loss

Significance of PTEN Loss in Diseases

Malignant Solid Tumor +

Breast Carcinoma +

Prostate Adenocarcinoma +

Prostate Carcinoma +

Non-Small Cell Lung Carcinoma +

Ovarian Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Endometrial Carcinoma +

Non-Hodgkin Lymphoma +

Melanoma +

Colorectal Carcinoma +

Glioblastoma +

Squamous Cell Lung Carcinoma +

Pancreatic Adenocarcinoma +

Cancer +

Fallopian Tube Carcinoma +

Leiomyosarcoma +

Gastric Adenocarcinoma +

Cholangiocarcinoma +

Multiple Myeloma +

Primary Peritoneal Carcinoma +

Pancreatic Ductal Adenocarcinoma +

Pleomorphic Liposarcoma +

Malignant Glioma +

Undifferentiated Pleomorphic Sarcoma +

Small Cell Lung Carcinoma +

Soft Tissue Sarcoma +

Malignant Peripheral Nerve Sheath Tumor +

Hepatocellular Carcinoma +

B-Cell Non-Hodgkin Lymphoma +

Osteosarcoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Lymphoma +

Uveal Melanoma +

Clear Cell Renal Cell Carcinoma +

Urothelial Carcinoma +

Renal Cell Carcinoma +

Gastric Carcinoma +

Pancreatic Carcinoma +

Angiosarcoma +

Bannayan Syndrome +

Breast Lobular Carcinoma In Situ +

Cowden Syndrome +

Extraskeletal Osteosarcoma +

Hereditary Breast And Ovarian Cancer Syndrome +

Histiocytic And Dendritic Cell Neoplasm +

Mesothelioma +

Myxofibrosarcoma +

Peritoneal Carcinoma +

Peritoneal Mesothelioma +

Pleomorphic Rhabdomyosarcoma +

Proteus Syndrome +

Thyroid Gland Carcinoma +


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.