Overview

Location [1]
8q11.21
Protein [2]
DNA-dependent protein kinase catalytic subunit
Synonyms [1]
XRCC7, DNA-PKC, DNAPKc, DNPK1, HYRC, HYRC1, p350, DNA-PKcs, IMD26, DNAPK

Protein kinase, DNA-activated, catalytic polypeptide (PRKDC) is a gene that encodes a protein that functions as the catalytic subunit of the DNA-dependent protein kinase. The protein also plays important roles in DNA double strand break repair and recombination. 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.

PRKDC is altered in 6.77% of all cancers with lung adenocarcinoma, colon adenocarcinoma, breast invasive ductal carcinoma, bladder urothelial carcinoma, and endometrial endometrioid adenocarcinoma having the greatest prevalence of alterations [3].

PRKDC GENIE Cases - Top Diseases

The most common alterations in PRKDC are PRKDC Mutation (3.37%), PRKDC Amplification (0.18%), PRKDC R1985H (0.04%), PRKDC N3604Tfs*48 (0.03%), and PRKDC N3604Kfs*3 (0.02%) [3].

PRKDC GENIE Cases - Top Alterations

Significance of PRKDC in Diseases

Malignant Solid Tumor +

Melanoma +

Cholangiocarcinoma +

Diffuse Large B-Cell Lymphoma +

Clear Cell Renal Cell Carcinoma +

Mesothelioma +

Mantle Cell Lymphoma +

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

Uveal Melanoma +

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.