Overview

Location [1]
12q24.33
Protein [2]
DNA polymerase epsilon catalytic subunit A
Synonyms [1]
FILS, CRCS12, POLE1

Polymerase (DNA directed), epsilon, catalytic subunit (POLE) is a gene that encodes a protein that is a catalytic component of DNA polymerase epsilon. The enzymatic protein functions in DNA repair and chromosomal DNA replication. Missense mutations, nonsense mutations, silent mutations, frameshift deletions and insertions, and in-frame deletions are observed in cancers such as endometrial cancer, intestinal cancer, and stomach cancer.

POLE is altered in 2.76% of all cancers with lung adenocarcinoma, colon adenocarcinoma, breast invasive ductal carcinoma, cutaneous melanoma, and endometrial endometrioid adenocarcinoma having the greatest prevalence of alterations [3].

POLE GENIE Cases - Top Diseases

The most common alterations in POLE are POLE Mutation (2.36%), POLE P286R (0.05%), POLE V411L (0.04%), POLE Amplification (0.03%), and POLE c.268-c.471 Mutation (0.03%) [3].

POLE GENIE Cases - Top Alterations

Significance of POLE in Diseases

Malignant Solid Tumor +

Prostate Adenocarcinoma +

Prostate Carcinoma +

Endometrial Carcinoma +

Ovarian Carcinoma +

Breast Carcinoma +

Cervical Carcinoma +

Non-Small Cell Lung Carcinoma +

Primary Peritoneal Carcinoma +

Urothelial Carcinoma +

Colorectal Carcinoma +

Non-Hodgkin Lymphoma +

Fallopian Tube Carcinoma +

Bladder Carcinoma +

Colorectal Adenocarcinoma +

Cholangiocarcinoma +

Gastric Carcinoma +

Esophageal Carcinoma +

Pancreatic Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Head And Neck Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Basal Cell Carcinoma +

Malignant Small Intestinal Neoplasm +

Melanoma +

Endometrial Adenocarcinoma +

Bladder Urothelial Carcinoma +

Colon Adenocarcinoma +

Malignant Intestinal Neoplasm +

Malignant Uterine Neoplasm +

Small Cell Lung Carcinoma +

Lung Carcinoma +

Central Nervous System Neoplasm +

Malignant Esophagogastric Neoplasm +

Bile Duct Carcinoma +

Gastric Adenocarcinoma +

Malignant Gastric Neoplasm +

Non-Clear Cell Renal Cell Carcinoma +

Lymphoma +

Malignant Ovarian Epithelial Tumor +

Soft Tissue Sarcoma +

High Grade Ovarian Serous Adenocarcinoma +

Kidney Carcinoma +

Pancreatic Adenocarcinoma +

Adnexal Carcinoma +

Ampulla Of Vater Carcinoma +

Anal Carcinoma +

B-Cell Non-Hodgkin Lymphoma +

Bronchogenic Carcinoma +

Clear Cell Renal Cell Carcinoma +

Constitutional Mismatch Repair Deficiency Syndrome +

Diffuse Large B-Cell Lymphoma +

Endometrial Serous Adenocarcinoma +

Endometrial Undifferentiated Carcinoma +

Esophageal Squamous Cell Carcinoma +

Gallbladder Carcinoma +

Gastrointestinal Stromal Tumor +

Hepatocellular Carcinoma +

Histiocytic And Dendritic Cell Neoplasm +

Lynch Syndrome +

Malignant Salivary Gland Neoplasm +

Mantle Cell Lymphoma +

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

Mesothelioma +

Multiple Myeloma +

Penile Carcinoma +

Squamous Cell Carcinoma Of The Penis +

Uterine Corpus Carcinosarcoma +

Uveal Melanoma +

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. 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.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.