Overview

Location [1]
3q13.33
Protein [2]
DNA polymerase theta
Synonyms [1]
PRO0327

POLQ is altered in 4.81% of all cancers with lung adenocarcinoma, colon adenocarcinoma, melanoma, breast invasive ductal carcinoma, and endometrial endometrioid adenocarcinoma having the greatest prevalence of alterations [3].

POLQ GENIE Cases - Top Diseases

The most common alterations in POLQ are POLQ Mutation (0.91%), POLQ L1430Ffs*5 (0.01%), POLQ I1373F (0.01%), POLQ M307V (0.01%), and POLQ N2248S (0.01%) [3].

POLQ GENIE Cases - Top Alterations

Significance of POLQ in Diseases

Urothelial Carcinoma +

Malignant Solid Tumor +

Diffuse Large B-Cell Lymphoma +

Mantle Cell Lymphoma +

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

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.