Gene Location [1]
Cell cycle control
Variant Type

CDKN2A Loss is present in 8.05% of AACR GENIE cases, with conventional glioblastoma multiforme, lung adenocarcinoma, pancreatic adenocarcinoma, glioblastoma, and bladder urothelial carcinoma having the greatest prevalence [4].

Top Disease Cases with CDKN2A Loss

Significance of CDKN2A Loss in Diseases

Malignant Solid Tumor +

Melanoma +

Glioblastoma +

Head And Neck Squamous Cell Carcinoma +

Non-Small Cell Lung Carcinoma +

Breast Carcinoma +

Malignant Glioma +

Lymphoma +

Colorectal Carcinoma +

Bladder Carcinoma +

Soft Tissue Sarcoma +

Pancreatic Carcinoma +

Non-Hodgkin Lymphoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Head And Neck Carcinoma +

Gastric Adenocarcinoma +

Ovarian Carcinoma +

Esophageal Squamous Cell Carcinoma +

Chordoma +

Hypopharyngeal Squamous Cell Carcinoma +

Dedifferentiated Chondrosarcoma +

Anaplastic Astrocytoma +

Acral Lentiginous Melanoma +

Pancreatic Ductal Adenocarcinoma +

Osteosarcoma +

Mucosal Melanoma +

Gallbladder Carcinoma +

Head And Neck Squamous Cell Carcinoma Of Unknown Primary +

Sarcoma +

Chondrosarcoma +

Esophageal Carcinoma +

Bile Duct Carcinoma +

Cholangiocarcinoma +

B-Cell Non-Hodgkin Lymphoma +

Lung Carcinoma +

Cancer +

Meningioma +

Oral Cavity Squamous Cell Carcinoma +

Oropharyngeal Squamous Cell Carcinoma +

Gastric Carcinoma +

Histiocytic And Dendritic Cell Neoplasm +

Malignant Uterine Neoplasm +

Prostate Carcinoma +

Cervical Carcinoma +

Germ Cell Tumor +

Multiple Myeloma +

Bronchogenic Carcinoma +

Laryngeal Small Cell Carcinoma +


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.