Associated Genetic Biomarkers
Associated Diseases
Associated Pathways

Overview

Location [1]
9p21.3
Pathway
Cell cycle control
Protein [2]
Cyclin-dependent kinase inhibitor 2A
Synonyms [1]
CDK4I, P16INK4A, CMM2, INK4A, TP16, MLM, INK4, P14ARF, CDKN2, MTS-1, P16, P19, ARF, P16-INK4A, P19ARF, MTS1, P14, P16INK4

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 9.27% of all cancers with lung adenocarcinoma, conventional glioblastoma multiforme, pancreatic adenocarcinoma, cutaneous melanoma, and bladder urothelial carcinoma having the greatest prevalence of alterations [3].

CDKN2A GENIE Cases - Top Diseases

The most common alterations in CDKN2A are CDKN2A Loss (8.04%), CDKN2A Mutation (6.10%), CDKN2A I145L (0.68%), CDKN2A R80* (0.55%), and CDKN2A R58* (0.39%) [3].

CDKN2A GENIE Cases - Top Alterations

Significance of CDKN2A in Diseases

Oropharyngeal Squamous Cell Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Malignant Solid Tumor +

Cervical Carcinoma +

Oropharyngeal Carcinoma +

Anal Carcinoma +

Penile Carcinoma +

Vaginal Carcinoma +

Vulvar Carcinoma +

High Grade Cervical Intraepithelial Neoplasia +

Non-Small Cell Lung Carcinoma +

Head And Neck Squamous Cell Carcinoma Of Unknown Primary +

Hypopharyngeal Squamous Cell Carcinoma +

Laryngeal Squamous Cell Carcinoma +

Oral Cavity Squamous Cell Carcinoma +

Melanoma +

Breast Carcinoma +

Cervical Squamous Cell Carcinoma +

Bladder Carcinoma +

Colorectal Carcinoma +

Glioblastoma +

Nasopharyngeal Carcinoma +

Non-Hodgkin Lymphoma +

Ovarian Carcinoma +

Anal Squamous Cell Carcinoma +

Head And Neck Carcinoma +

Nasopharyngeal Squamous Cell Carcinoma +

Tonsillar Squamous Cell Carcinoma +

Malignant Glioma +

Pancreatic Carcinoma +

Esophageal Carcinoma +

Lymphoma +

Lung Carcinoma +

Prostate Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Cervical Intraepithelial Neoplasia +

Squamous Cell Carcinoma Of Unknown Primary +

Vulvar/Vaginal Squamous Cell Carcinoma +

Urothelial Carcinoma +

Esophageal Squamous Cell Carcinoma +

Soft Tissue Sarcoma +

Cancer +

Gastric Carcinoma +

Gastric Adenocarcinoma +

Malignant Uterine Neoplasm +

Anal Intraepithelial Neoplasia +

Oral Cavity Carcinoma +

Rectal Squamous Cell Carcinoma +

Vulvar Squamous Cell Carcinoma +

Pancreatic Ductal Adenocarcinoma +

Chordoma +

Malignant Pleural Mesothelioma +

Acral Lentiginous Melanoma +

Malignant Mesothelioma +

Anaplastic Astrocytoma +

Gallbladder Carcinoma +

Osteosarcoma +

B-Cell Non-Hodgkin Lymphoma +

Sarcoma +

Bile Duct Carcinoma +

Cholangiocarcinoma +

Anal Neoplasm +

Chondrosarcoma +

Merkel Cell Carcinoma +

Meningioma +

Small Cell Lung Carcinoma +

Well-Differentiated Thyroid Gland Carcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Appendix Carcinoma +

Bronchogenic Carcinoma +

Cervical Adenocarcinoma +

Cervical Adenosquamous Carcinoma +

Cervical Neuroendocrine Carcinoma +

Dedifferentiated Chondrosarcoma +

Fallopian Tube Carcinoma +

Germ Cell Tumor +

Histiocytic And Dendritic Cell Neoplasm +

Hodgkin Lymphoma +

Lung Papilloma +

Multiple Myeloma +

Nasal Cavity Squamous Cell Carcinoma +

Oropharyngeal Undifferentiated Carcinoma +

Paranasal Sinus Squamous Cell Carcinoma +

Primary Peritoneal Carcinoma +

Squamous Cell Carcinoma Of The Penis +

Supraglottic Squamous Cell Carcinoma +

Tongue Squamous Cell Carcinoma +

Vaginal Squamous Cell Carcinoma +

Vulvar High Grade Squamous Intraepithelial Lesion +

Vulvar Neoplasm +

Vulvar Squamous Intraepithelial Lesion +

Vulvar Squamous Neoplasm +

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.