Associated Genetic Biomarkers
CDKN2A P48L is present in 0.04% of AACR GENIE cases, with cutaneous melanoma, skin squamous cell carcinoma, melanoma, pancreatic adenocarcinoma, and sarcoma, NOS having the greatest prevalence .
CDKN2A P48L serves as an inclusion eligibility criterion in 3 clinical trials, of which 2 are open and 1 is closed. Of the trials that contain CDKN2A P48L as an inclusion criterion, 3 are phase 2 (2 open).
Trials with CDKN2A P48L in the inclusion eligibility criteria most commonly target glioblastoma, head and neck squamous cell carcinoma, and malignant solid tumor .
Abemaciclib, pembrolizumab, ribociclib, and siremadlin are the most frequent therapies in trials with CDKN2A P48L as an inclusion criteria .
Significance of CDKN2A P48L in Diseases
Head And Neck Squamous Cell Carcinoma +
CDKN2A is altered in 23.69% of head and neck squamous cell carcinoma patients with CDKN2A P48L present in 0.08% of all head and neck squamous cell carcinoma patients .
CDKN2A P48L is an inclusion criterion in 1 clinical trial for head and neck squamous cell carcinoma, of which 1 is open and 0 are closed. Of the trial that contains CDKN2A P48L and head and neck squamous cell carcinoma as inclusion criteria, 1 is phase 2 (1 open) .
Malignant Solid Tumor +
CDKN2A is altered in 11.23% of malignant solid tumor patients with CDKN2A P48L present in 0.03% of all malignant solid tumor patients .
CDKN2A P48L is an inclusion criterion in 1 clinical trial for malignant solid tumor, of which 1 is open and 0 are closed. Of the trial that contains CDKN2A P48L and malignant solid tumor as inclusion criteria, 1 is phase 2 (1 open) .
2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.
3. Liu X, Wu C, Li C, and Boerwinkle E. dbNSFP v3.0: A one-stop database of functional predictions and annotations for human nonsynonymous and splice site SNVs. Human Mutation. 2015;37:235-241.
Liu X, Jian X, and Boerwinkle E. dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions. Human Mutation. 2011;32:894-899.
4. 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.