Gene Location [1]
Cell cycle control

CDKN2A Mutation is present in 3.10% of AACR GENIE cases, with lung adenocarcinoma, pancreatic adenocarcinoma, cutaneous melanoma, melanoma, and squamous cell lung carcinoma having the greatest prevalence [4].

Top Disease Cases with CDKN2A Mutation

Significance of CDKN2A Mutation in Diseases

Malignant Solid Tumor +

Breast Carcinoma +

Melanoma +

Colorectal Carcinoma +

Pancreatic Carcinoma +

Head And Neck Carcinoma +

Non-Small Cell Lung Carcinoma +

Bladder Carcinoma +

Lymphoma +

Non-Hodgkin Lymphoma +

Ovarian Carcinoma +

Head And Neck Squamous Cell Carcinoma Of Unknown Primary +

Oral Cavity Squamous Cell Carcinoma +

Hypopharyngeal Squamous Cell Carcinoma +

Esophageal Carcinoma +

Esophageal Squamous Cell Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Gallbladder Carcinoma +

Oropharyngeal Squamous Cell Carcinoma +

Lung Carcinoma +

Gastric Carcinoma +

Gastric Adenocarcinoma +

Cancer +

Bile Duct Carcinoma +

Cholangiocarcinoma +

Small Cell Lung Carcinoma +

Cervical Carcinoma +

Glioblastoma +

Anaplastic Astrocytoma +

B-Cell Non-Hodgkin Lymphoma +

Malignant Uterine Neoplasm +

Sarcoma +

Soft Tissue Sarcoma +

Mucosal Melanoma +

Histiocytic And Dendritic Cell Neoplasm +

Germ Cell Tumor +

Bronchogenic Carcinoma +

Laryngeal Small Cell Carcinoma +

Multiple Myeloma +


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. 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.

5. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.