Associated Genetic Biomarkers
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 7.82% of all cancers with lung adenocarcinoma, colon adenocarcinoma, breast invasive ductal carcinoma, melanoma, and endometrial endometrioid adenocarcinoma having the greatest prevalence of alterations .
The most common alterations in PRKDC are PRKDC Mutation (7.17%), PRKDC Amplification (0.48%), PRKDC N3604fs (0.15%), PRKDC R1985H (0.12%), and PRKDC Fusion (0.10%) .
PRKDC status serves as an inclusion eligibility criteria in 2 clinical trials, of which 2 are open and 0 are closed. Of the trials that contain PRKDC status as an inclusion criterion, 1 is phase 1 (1 open) and 1 is phase 2 (1 open).
Trials with PRKDC status in the inclusion eligibility criteria most commonly target diffuse large B-cell lymphoma, malignant solid tumor, mantle cell lymphoma, mature T-cell and NK-cell non-hodgkin lymphoma, and melanoma .
The most frequent alterations to serve as inclusion eligibility criteria are PRKDC Loss and PRKDC Mutation .
Nivolumab, talazoparib, and veliparib are the most frequent therapies in trials with PRKDC as an inclusion criteria .
Significance of PRKDC in Diseases
Malignant Solid Tumor +
Mantle Cell Lymphoma +
Mature T-Cell And NK-Cell Non-Hodgkin Lymphoma +
PRKDC is altered in 5.13% of mature T-cell and NK-cell non-hodgkin lymphoma patients .
PRKDC is an inclusion criterion in 1 clinical trial for mature T-cell and NK-cell non-hodgkin lymphoma, of which 1 is open and 0 are closed. Of the trial that contains PRKDC status and mature T-cell and NK-cell non-hodgkin lymphoma as inclusion criteria, 1 is phase 1 (1 open) .
Diffuse Large B-Cell Lymphoma +
PRKDC is altered in 4.23% of diffuse large B-cell lymphoma patients .
PRKDC is an inclusion criterion in 1 clinical trial for diffuse large B-cell lymphoma, of which 1 is open and 0 are closed. Of the trial that contains PRKDC status and diffuse large B-cell lymphoma as inclusion criteria, 1 is phase 1 (1 open) .
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.