Overview

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

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 3.43% of all cancers with non-small cell lung carcinoma, colorectal adenocarcinoma, melanoma, breast carcinoma, and uterine corpus neoplasm 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 Loss (0.03%) [3].

POLE GENIE Cases - Top Alterations

Significance of POLE in Diseases

Malignant Solid Tumor +

Endometrial Carcinoma +

Urothelial Carcinoma +

Colorectal Adenocarcinoma +

Multiple Myeloma +

Basal Cell Carcinoma +

Endometrial Undifferentiated Carcinoma +

Endometrial Adenocarcinoma +

Malignant Salivary Gland Neoplasm +

Squamous Cell Carcinoma Of The Penis +

Colon Adenocarcinoma +

Bladder Carcinoma +

Head And Neck Carcinoma +

Gastric Carcinoma +

Non-Hodgkin Lymphoma +

Non-Clear Cell Renal Cell Carcinoma +

Endometrial Serous Adenocarcinoma +

Diffuse Large B-Cell Lymphoma +

Lymphoma +

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

Uterine Corpus Carcinosarcoma +

Adnexal Carcinoma +

B-Cell Non-Hodgkin Lymphoma +

Mantle Cell Lymphoma +

References

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. 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.

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