Overview

Gene Location [1]
9p21.3
Pathway
Cell cycle control
Variant Type
Overexpression

Significance of CDKN2A Overexpression in Diseases

Oropharyngeal Squamous Cell Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Cervical Carcinoma +

Malignant Solid Tumor +

Oropharyngeal Carcinoma +

Anal Carcinoma +

Penile Carcinoma +

Vaginal Carcinoma +

Vulvar Carcinoma +

Head And Neck Squamous Cell Carcinoma Of Unknown Primary +

Hypopharyngeal Squamous Cell Carcinoma +

Cervical Squamous Cell Carcinoma +

High Grade Cervical Intraepithelial Neoplasia +

Laryngeal Squamous Cell Carcinoma +

Oral Cavity Squamous Cell Carcinoma +

Non-Small Cell Lung Carcinoma +

Nasopharyngeal Squamous Cell Carcinoma +

Anal Squamous Cell Carcinoma +

Melanoma +

Tonsillar Squamous Cell Carcinoma +

Cervical Intraepithelial Neoplasia +

Colorectal Carcinoma +

Lung Carcinoma +

Nasopharyngeal Carcinoma +

Non-Hodgkin Lymphoma +

Squamous Cell Carcinoma Of Unknown Primary +

Anal Intraepithelial Neoplasia +

Bladder Carcinoma +

Breast Carcinoma +

Cervical Adenocarcinoma +

Cervical Adenosquamous Carcinoma +

Esophageal Carcinoma +

Head And Neck Carcinoma +

Oral Cavity Carcinoma +

Oropharyngeal Undifferentiated Carcinoma +

Ovarian Carcinoma +

Prostate Carcinoma +

Rectal Squamous Cell Carcinoma +

Urothelial Carcinoma +

Vulvar Squamous Cell Carcinoma +

Vulvar/Vaginal Squamous Cell Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Adenoid Cystic Carcinoma +

Anal Canal Squamous Cell Carcinoma +

Anaplastic Astrocytoma +

Appendix Carcinoma +

Breast Adenocarcinoma +

Cancer +

Cervical Neuroendocrine Carcinoma +

Clear Cell Renal Cell Carcinoma +

Esophageal Squamous Cell Carcinoma +

Gastric Carcinoma +

Glioblastoma +

High Grade Ovarian Serous Adenocarcinoma +

Hodgkin Lymphoma +

Lung Papilloma +

Lymphoma +

Malignant Pleural Mesothelioma +

Malignant Uterine Neoplasm +

Merkel Cell Carcinoma +

Nasal Cavity Squamous Cell Carcinoma +

Pancreatic Carcinoma +

Paranasal Sinus Squamous Cell Carcinoma +

Sarcoma +

Small Intestinal Carcinoma +

Soft Tissue Sarcoma +

Squamous Cell Carcinoma Of The Penis +

Supraglottic Squamous Cell Carcinoma +

Tongue Squamous Cell Carcinoma +

Transitional Cell Carcinoma +

Vaginal Squamous Cell Carcinoma +

Vulvar High Grade Squamous Intraepithelial Lesion +

Vulvar Neoplasm +

Vulvar Squamous Intraepithelial Lesion +

Well-Differentiated Thyroid Gland Carcinoma +

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. 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.