Associated Genetic Biomarkers
Associated Diseases
Associated Pathways

Overview

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

TP53 Mutation is present in 32.56% of AACR GENIE cases, with lung adenocarcinoma, colon adenocarcinoma, breast invasive ductal carcinoma, pancreatic adenocarcinoma, and high grade ovarian serous adenocarcinoma 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 +

Hodgkin Lymphoma +

Non-Hodgkin Lymphoma +

Chronic Myelomonocytic Leukemia +

Chronic Lymphocytic Leukemia +

Multiple Myeloma +

Acute Biphenotypic Leukemia +

Malignant Solid Tumor +

Mantle Cell Lymphoma +

Non-Small Cell Lung Carcinoma +

Burkitt Lymphoma +

Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma +

Lymphoma +

Secondary Acute Myeloid Leukemia +

Acute Leukemia +

Anaplastic Large Cell Lymphoma +

Myelodysplastic/Myeloproliferative Neoplasm +

Myeloproliferative Neoplasm +

Juvenile Myelomonocytic Leukemia +

Ovarian Carcinoma +

Follicular Lymphoma +

Myelofibrosis +

Marginal Zone Lymphoma +

Small Lymphocytic Lymphoma +

Breast Carcinoma +

Prolymphocytic Leukemia +

Diffuse Large B-Cell Lymphoma +

Refractory Anemia With Excess Blasts +

Prostate Carcinoma +

Acute Myeloid Leukemia Arising From Previous Myelodysplastic Syndrome +

Double-Hit Lymphoma +

Endometrial Serous Adenocarcinoma +

Fallopian Tube Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Primary Peritoneal Carcinoma +

Bladder Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Therapy-Related Acute Myeloid Leukemia +

Therapy-Related Myelodysplastic Syndrome +

Glioblastoma +

Myelodysplastic Syndrome With Excess Blasts-2 +

B-Cell Non-Hodgkin Lymphoma +

Mixed Phenotype Acute Leukemia +

Lymphoplasmacytic Lymphoma +

T-Cell Lymphoblastic Leukemia/Lymphoma +

Lymphoblastic Lymphoma +

Plasma Cell Leukemia +

T-Cell Acute Lymphoblastic Leukemia +

High Grade Ovarian Serous Adenocarcinoma +

High Grade Fallopian Tube Serous Adenocarcinoma +

Small Cell Lung Carcinoma +

Squamous Cell Lung Carcinoma +

Anaplastic Astrocytoma +

Colorectal Adenocarcinoma +

Primary Peritoneal Serous Adenocarcinoma +

Urothelial Carcinoma +

Acute Undifferentiated Leukemia +

Melanoma +

Leukemia +

Mature T-Cell And NK-Cell Neoplasm +

B-Cell Acute Lymphoblastic Leukemia +

Burkitt Leukemia +

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

Natural Killer Cell Lymphoblastic Leukemia/Lymphoma +

Peripheral T-Cell Lymphoma +

Refractory Anemia +

Esophageal Squamous Cell Carcinoma +

Uterine Carcinosarcoma +

Esophageal Carcinoma +

Anaplastic Oligoastrocytoma +

Ovarian Serous Tumor +

Colorectal Carcinoma +

Malignant Intestinal Neoplasm +

Malignant Esophagogastric Neoplasm +

Pancreatic Carcinoma +

Pancreatic Adenocarcinoma +

Gliosarcoma +

Ampulla Of Vater Carcinoma +

Gastric Carcinoma +

Malignant Gastric Neoplasm +

Gastric Adenocarcinoma +

WHO Grade III Glioma +

Malignant Small Intestinal Neoplasm +

Transitional Cell Carcinoma +

Lung Adenocarcinoma +

Endometrial Carcinoma +

Secondary Myelodysplastic Syndrome +

Cancer +

Head And Neck Carcinoma +

Adult T-Cell Leukemia/Lymphoma +

Breast Lobular Carcinoma In Situ +

Acute Megakaryoblastic Leukemia +

T-Cell Prolymphocytic Leukemia +

Acute Myeloid Leukemia With Myelodysplasia-Related Changes +

Cholangiocarcinoma +

Prostate Adenocarcinoma +

Mediastinal Large B-Cell Lymphoma +

Ovarian Endometrioid Adenocarcinoma +

Sarcoma +

Acute Leukemia Of Ambiguous Lineage +

Malignant Testicular Neoplasm +

Ewing Sarcoma +

Myeloid Neoplasm +

Rhabdomyosarcoma +

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

T-Cell Non-Hodgkin Lymphoma +

Myelodysplastic/Myeloproliferative Neoplasm, Unclassifiable +

Kidney Carcinoma +

Plasma Cell Neoplasm +

Clear Cell Renal Cell Carcinoma +

Chronic Myelomonocytic Leukemia-2 +

Adenoid Cystic Carcinoma +

Indolent Non-Hodgkin Lymphoma +

Chronic Myelomonocytic Leukemia-1 +

Gastrointestinal Stromal Tumor +

Chronic Myelomonocytic Leukemia-0 +

Primary Myelofibrosis +

Polycythemia Vera +

Neuroblastoma +

Desmoplastic Small Round Cell Tumor +

Histiocytic And Dendritic Cell Neoplasm +

Acute Bilineal Leukemia +

Acute Erythroid Leukemia +

Acute Promyelocytic Leukemia +

Adult Acute Lymphoblastic Leukemia +

Aplastic Anemia +

B-Cell Prolymphocytic Leukemia +

Fallopian Tube Endometrioid Adenocarcinoma +

Hereditary Breast And Ovarian Cancer Syndrome +

Mature B-Cell Lymphoma/Leukemia +

Myeloid Sarcoma +

Primary Peritoneal Endometrioid Adenocarcinoma +

Small Lymphocytic Leukemia +

Therapy-Related Chronic Myelomonocytic Leukemia +

Waldenstrom Macroglobulinemia +

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.