Overview

Gene Location [1]
17p13.1
Pathway
Cell cycle control
Variant Type
Loss
Gene
TP53

TP53 Loss is present in 0.42% of AACR GENIE cases, with breast invasive ductal carcinoma, prostate adenocarcinoma, undifferentiated pleomorphic sarcoma, leiomyosarcoma, and uterine corpus leiomyosarcoma having the greatest prevalence [4].

Top Disease Cases with TP53 Loss

Significance of TP53 Loss in Diseases

Acute Myeloid Leukemia +

Myelodysplastic Syndromes +

Multiple Myeloma +

Acute Lymphoblastic Leukemia +

Chronic Myelomonocytic Leukemia +

Malignant Solid Tumor +

Non-Small Cell Lung Carcinoma +

Colorectal Carcinoma +

Chronic Lymphocytic Leukemia +

Prostate Carcinoma +

Breast Carcinoma +

Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma +

Chronic Myeloid Leukemia +

Diffuse Large B-Cell Lymphoma +

Head And Neck Squamous Cell Carcinoma +

Lymphoma +

Non-Hodgkin Lymphoma +

Ovarian Carcinoma +

Pancreatic Carcinoma +

Secondary Acute Myeloid Leukemia +

T-Cell Acute Lymphoblastic Leukemia +

Therapy-Related Acute Myeloid Leukemia +

Sarcoma +

Glioblastoma +

Cancer +

Urothelial Carcinoma +

Melanoma +

Colorectal Adenocarcinoma +

Acute Bilineal Leukemia +

Acute Biphenotypic Leukemia +

Acute Myeloid Leukemia With Myelodysplasia-Related Changes +

Anaplastic Astrocytoma +

B-Cell Acute Lymphoblastic Leukemia +

B-Cell Non-Hodgkin Lymphoma +

Bladder Carcinoma +

Breast Lobular Carcinoma In Situ +

Double-Hit Lymphoma +

Esophageal Squamous Cell Carcinoma +

Head And Neck Carcinoma +

Hereditary Breast And Ovarian Cancer Syndrome +

High Grade Ovarian Serous Adenocarcinoma +

Histiocytic And Dendritic Cell Neoplasm +

Hodgkin Lymphoma +

Mantle Cell Lymphoma +

Mature T-Cell And NK-Cell Neoplasm +

Mixed Phenotype Acute Leukemia +

Myelodysplastic/Myeloproliferative Neoplasm, Unclassifiable +

Myeloma +

Myeloproliferative Neoplasm +

Peripheral T-Cell Lymphoma +

Primary Myelofibrosis +

Prolymphocytic Leukemia +

Refractory Anemia With Excess Blasts-2 +

Small Lymphocytic Lymphoma +

Smoldering Plasma Cell Myeloma +

Squamous Cell Lung Carcinoma +

T-Cell Non-Hodgkin Lymphoma +

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 6. 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.