Overview

Gene Location [1]
12q24.33
Gene
POLE

POLE Mutation is present in 3.37% of AACR GENIE cases, with lung adenocarcinoma, colon adenocarcinoma, endometrial endometrioid adenocarcinoma, cutaneous melanoma, and bladder urothelial carcinoma having the greatest prevalence [4].

Top Disease Cases with POLE Mutation

Significance of POLE Mutation in Diseases

Malignant Solid Tumor +

Prostate Adenocarcinoma +

Endometrial Carcinoma +

Prostate Carcinoma +

Breast Carcinoma +

Ovarian Carcinoma +

Colorectal Carcinoma +

Non-Small Cell Lung Carcinoma +

Cervical Carcinoma +

Primary Peritoneal Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Non-Hodgkin Lymphoma +

Urothelial Carcinoma +

Colorectal Adenocarcinoma +

Bladder Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Central Nervous System Neoplasm +

Head And Neck Carcinoma +

Cholangiocarcinoma +

Gastric Carcinoma +

Fallopian Tube Carcinoma +

Pancreatic Carcinoma +

Soft Tissue Sarcoma +

High Grade Ovarian Serous Adenocarcinoma +

Endometrial Undifferentiated Carcinoma +

Basal Cell Carcinoma +

Endometrial Adenocarcinoma +

Melanoma +

Malignant Small Intestinal Neoplasm +

Malignant Uterine Neoplasm +

Bladder Urothelial Carcinoma +

Penile Carcinoma +

Squamous Cell Carcinoma Of The Penis +

Malignant Intestinal Neoplasm +

Small Cell Lung Carcinoma +

Lung Carcinoma +

Ovarian Endometrioid Adenocarcinoma +

Anal Carcinoma +

Cancer +

Multiple Myeloma +

Esophageal Carcinoma +

Malignant Esophagogastric Neoplasm +

Uveal Melanoma +

Bile Duct Carcinoma +

Gastric Adenocarcinoma +

Malignant Gastric Neoplasm +

Diffuse Large B-Cell Lymphoma +

Uterine Corpus Carcinosarcoma +

Ampulla Of Vater Carcinoma +

High Grade Fallopian Tube Serous Adenocarcinoma +

Gallbladder Carcinoma +

B-Cell Non-Hodgkin Lymphoma +

Mature T-Cell And NK-Cell Non-Hodgkin Lymphoma +

Lymphoma +

Non-Clear Cell Renal Cell Carcinoma +

Malignant Ovarian Epithelial Tumor +

Pancreatic Adenocarcinoma +

Clear Cell Renal Cell Carcinoma +

Endometrial Serous Adenocarcinoma +

Esophageal Squamous Cell Carcinoma +

Histiocytic And Dendritic Cell Neoplasm +

Malignant Salivary Gland Neoplasm +

Gastrointestinal Stromal Tumor +

Mesothelioma +

Adnexal Carcinoma +

Bronchogenic Carcinoma +

Constitutional Mismatch Repair Deficiency Syndrome +

Fallopian Tube Clear Cell Adenocarcinoma +

Fallopian Tube Endometrioid Adenocarcinoma +

Lynch Syndrome +

Mantle Cell Lymphoma +

Ovarian Clear Cell Adenocarcinoma +

Primary Peritoneal Clear Cell Carcinoma +

Primary Peritoneal Endometrioid Adenocarcinoma +

Primary Peritoneal High Grade Serous Adenocarcinoma +

Vaginal Carcinoma +

Vulvar Carcinoma +

Xeroderma Pigmentosum +

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 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.