Overview

Location [1]
19q13.33
Protein [2]
DNA polymerase delta catalytic subunit
Synonyms [1]
CRCS10, POLD, MDPL, CDC2

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 1.94% of all cancers with colon adenocarcinoma, lung adenocarcinoma, breast invasive ductal carcinoma, endometrial endometrioid adenocarcinoma, and melanoma having the greatest prevalence of alterations [3].

POLD1 GENIE Cases - Top Diseases

The most common alterations in POLD1 are POLD1 Mutation (1.41%), POLD1 Amplification (0.09%), POLD1 Loss (0.05%), POLD1 P116Hfs*53 (0.03%), and POLD1 R119C (0.01%) [3].

POLD1 GENIE Cases - Top Alterations

Significance of POLD1 in Diseases

Malignant Solid Tumor +

Bladder Carcinoma +

Central Nervous System Neoplasm +

Melanoma +

Gastric Adenocarcinoma +

Gastric Carcinoma +

Urothelial Carcinoma +

Malignant Uterine Neoplasm +

Colorectal Carcinoma +

Esophageal Carcinoma +

Cancer +

Non-Small Cell Lung Carcinoma +

Lung Carcinoma +

Clear Cell Renal Cell Carcinoma +

Ovarian Carcinoma +

Bile Duct Carcinoma +

Breast Carcinoma +

Cholangiocarcinoma +

Pancreatic Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

B-Cell Non-Hodgkin Lymphoma +

Bronchogenic Carcinoma +

Cervical Carcinoma +

Constitutional Mismatch Repair Deficiency Syndrome +

Diffuse Large B-Cell Lymphoma +

Esophageal Squamous Cell Carcinoma +

Gallbladder Carcinoma +

Head And Neck Carcinoma +

Lymphoma +

Lynch Syndrome +

Mantle Cell Lymphoma +

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

Mesothelioma +

Multiple Myeloma +

Uveal Melanoma +

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.