Overview

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

TP53 Mutation is present in 36.74% of AACR GENIE cases, with non-small cell lung carcinoma, colorectal adenocarcinoma, breast carcinoma, ovarian neoplasm, and pancreatic exocrine neoplasm having the greatest prevalence [4].

Top Disease Cases with TP53 Mutation

Significance of TP53 Mutation in Diseases

Acute Myeloid Leukemia +

Myelodysplastic Syndromes +

Acute Lymphoblastic Leukemia +

Chronic Myeloid Leukemia +

Non-Hodgkin Lymphoma +

Hodgkin Lymphoma +

Multiple Myeloma +

Chronic Lymphocytic Leukemia +

Chronic Myelomonocytic Leukemia +

Burkitt Lymphoma +

Acute Biphenotypic Leukemia +

Mantle Cell Lymphoma +

Lymphoma +

Acute Leukemia +

Follicular Lymphoma +

Marginal Zone Lymphoma +

Malignant Solid Tumor +

Anaplastic Large Cell Lymphoma +

Myeloproliferative Neoplasm +

Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma +

Prolymphocytic Leukemia +

Myelodysplastic/Myeloproliferative Neoplasm +

Juvenile Myelomonocytic Leukemia +

Small Lymphocytic Lymphoma +

Myelofibrosis +

Lymphoplasmacytic Lymphoma +

Non-Small Cell Lung Carcinoma +

Ovarian Carcinoma +

Diffuse Large B-Cell Lymphoma +

Double-Hit Lymphoma +

Lymphoblastic Lymphoma +

Plasma Cell Leukemia +

Refractory Anemia With Excess Blasts +

Breast Carcinoma +

B-Cell Non-Hodgkin Lymphoma +

T-Cell Lymphoblastic Leukemia/Lymphoma +

Small Cell Lung Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Glioblastoma +

Peripheral T-Cell Lymphoma +

Hematopoietic And Lymphoid Malignancy +

T-Cell Non-Hodgkin Lymphoma +

Acute Leukemia Of Ambiguous Lineage +

Burkitt Leukemia +

Fallopian Tube Carcinoma +

Mature T-Cell And NK-Cell Lymphoma/Leukemia +

Mature T-Cell And NK-Cell Neoplasm +

Myeloid Sarcoma +

Natural Killer Cell Lymphoblastic Leukemia/Lymphoma +

Primary Myelofibrosis +

Primary Peritoneal Carcinoma +

Breast Lobular Carcinoma In Situ +

Adenocarcinoma Of The Gastroesophageal Junction +

Pancreatic Carcinoma +

Colorectal Carcinoma +

Anaplastic Astrocytoma +

Gastric Adenocarcinoma +

Bladder Carcinoma +

Bladder Urothelial Carcinoma +

Infiltrating Renal Pelvis And Ureter Urothelial Carcinoma +

Head And Neck Carcinoma +

Prostate Carcinoma +

Cancer +

Cholangiocarcinoma +

Sarcoma +

Melanoma +

Aggressive Non-Hodgkin Lymphoma +

Ewing Sarcoma +

Rhabdomyosarcoma +

Leukemia +

Mature T-Cell And NK-Cell Non-Hodgkin Lymphoma +

Neuroblastoma +

Acute Erythroid Leukemia +

Acute Megakaryoblastic Leukemia +

Acute Promyelocytic Leukemia +

Acute Undifferentiated Leukemia +

Adult Acute Lymphoblastic Leukemia +

Adult T-Cell Leukemia/Lymphoma +

B-Cell Prolymphocytic Leukemia +

Blastic Plasmacytoid Dendritic Cell Neoplasm +

Desmoplastic Small Round Cell Tumor +

Hereditary Breast And Ovarian Cancer Syndrome +

Mature B-Cell Lymphoma/Leukemia +

Mediastinal Large B-Cell Lymphoma +

Mixed Phenotype Acute Leukemia +

Myelodysplastic/Myeloproliferative Neoplasm, Unclassifiable +

Myeloma +

Ovarian Serous Tumor +

Plasma Cell Neoplasm +

Polycythemia Vera +

Refractory Anemia +

Refractory Anemia With Excess Blasts-2 +

Renal Pelvis Urothelial Carcinoma +

Secondary Acute Myeloid Leukemia +

Secondary Myelodysplastic Syndrome +

Small Lymphocytic Leukemia +

T-Cell Prolymphocytic Leukemia +

T-Cell And NK-Cell Neoplasm +

Therapy-Related Acute Myeloid Leukemia +

Ureter Urothelial Carcinoma +

Waldenstrom Macroglobulinemia +

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.