Biomarkers /
POLD1
Overview
Polymerase (DNA directed), delta 1, catalytic subunit (POLD1) is a gene that encodes a subunit of DNA polymerase delta, a protein complex that plays a critical role in DNA replication and repair. Missense mutations, synonymous mutations, frameshift deletions, and nonsense mutations are observed in cancers such as colon cancer, skin cancer, and stomach cancer.
POLD1 is altered in 2.48% of all cancers with colon adenocarcinoma, lung adenocarcinoma, breast invasive ductal carcinoma, endometrial endometrioid adenocarcinoma, and cutaneous melanoma having the greatest prevalence of alterations [3].
The most common alterations in POLD1 are POLD1 Mutation (2.02%), POLD1 Amplification (0.15%), POLD1 X987_splice (0.12%), POLD1 Loss (0.11%), and POLD1 E57del (0.05%) [3].
Clinical Trials
Significance of POLD1 in Diseases
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 8. 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.