Biomarkers /
CDKN2A
Overview
The Cyclin-dependent kinase inhibitor 2A (CDKN2A) gene encodes several protein isoforms that function as inhibitors of CDK4 and ARF. Missense mutations, nonsense mutations, silent mutations, in-frame deletions, frameshift deletions and insertions, and whole gene deletions are observed in cancer such as cancers of the genital tract, mesothelioma, ovarian cancer, skin cancer, and multiple other cancer types.
CDKN2A is altered in 10.19% of all cancers with lung adenocarcinoma, pancreatic adenocarcinoma, conventional glioblastoma multiforme, cutaneous melanoma, and bladder urothelial carcinoma having the greatest prevalence of alterations [3].
The most common alterations in CDKN2A are CDKN2A Loss (8.05%), CDKN2A Mutation (3.10%), CDKN2A Nonsense (1.31%), CDKN2A R80* (0.43%), and CDKN2A R58* (0.31%) [3].
Clinical Trials
Significance of CDKN2A 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.