Overview

Gene Location [1]
17p13.1
Pathway
Cell cycle control
Variant Type
Deletion - In frame
Gene
TP53

TP53 Deletion is present in 0.80% of AACR GENIE cases, with breast carcinoma, colorectal adenocarcinoma, non-small cell lung carcinoma, pancreatic exocrine neoplasm, and malignant glioma having the greatest prevalence [4].

Top Disease Cases with TP53 Deletion

Significance of TP53 Deletion in Diseases

Malignant Solid Tumor +

Breast Carcinoma +

Non-Small Cell Lung Carcinoma +

Glioblastoma +

Myelodysplastic Syndromes +

Chronic Myelomonocytic Leukemia +

Multiple Myeloma +

Anaplastic Astrocytoma +

Small Cell Lung Carcinoma +

Pancreatic Carcinoma +

Colorectal Adenocarcinoma +

Colorectal Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Sarcoma +

Bladder Urothelial Carcinoma +

Bladder Carcinoma +

Infiltrating Renal Pelvis And Ureter Urothelial Carcinoma +

Lymphoma +

Melanoma +

Head And Neck Carcinoma +

Acute Myeloid Leukemia +

Chronic Lymphocytic Leukemia +

Diffuse Large B-Cell Lymphoma +

Follicular Lymphoma +

Hodgkin Lymphoma +

Mantle Cell Lymphoma +

Myelodysplastic/Myeloproliferative Neoplasm +

Myeloma +

Non-Hodgkin Lymphoma +

Ovarian Carcinoma +

Renal Pelvis Urothelial Carcinoma +

T-Cell Non-Hodgkin Lymphoma +

Ureter Urothelial Carcinoma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20170629. 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 4. 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.