Associated Genetic Biomarkers
Associated Diseases
Associated Pathways

Overview

Location [1]
17p13.1
Pathway
Cell cycle control
Protein [2]
Cellular tumor antigen p53
Synonyms [1]
BCC7, P53, LFS1, TRP53

Tumor protein p53 (TP53) is a gene that codes for a tumor suppressor protein, cellular tumor antigen p53. The protein regulates expression of genes involved in cell cycle arrest, apoptosis, senescence, DNA repair, and changes in metabolism (Gene 2014). In cancer, TP53's normal roles are not fulfilled, leading to cell survival, DNA damage, and cell proliferation. TP53 is the most frequently mutated gene in cancer; it is mutated in about half of all cancers (Genetics Home Reference 2014). TP53 is most frequently mutated in ovarian, colon, and esophageal cancers, although it is significantly mutated in many other cancer types (COSMIC).

TP53 is altered in 33.24% of all cancers with lung adenocarcinoma, breast invasive ductal carcinoma, colon adenocarcinoma, pancreatic adenocarcinoma, and colorectal adenocarcinoma having the greatest prevalence of alterations [3].

TP53 GENIE Cases - Top Diseases

The most common alterations in TP53 are TP53 Mutation (51.26%), TP53 Missense (37.33%), TP53 c.217-c.1178 Missense (37.17%), TP53 Nonsense (7.92%), and TP53 Frameshift (6.36%) [3].

TP53 GENIE Cases - Top Alterations

Biomarker-Directed Therapies

Significance of TP53 in Diseases

Chronic Lymphocytic Leukemia +

Acute Myeloid Leukemia +

Myelodysplastic Syndromes +

Acute Lymphoblastic Leukemia +

Chronic Myeloid Leukemia +

Hodgkin Lymphoma +

Multiple Myeloma +

Non-Hodgkin Lymphoma +

Chronic Myelomonocytic Leukemia +

Malignant Solid Tumor +

Acute Biphenotypic Leukemia +

Mantle Cell Lymphoma +

Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma +

Non-Small Cell Lung Carcinoma +

Lymphoma +

Burkitt Lymphoma +

Ovarian Carcinoma +

Breast Carcinoma +

Follicular Lymphoma +

Medulloblastoma +

Myeloproliferative Neoplasm +

Anaplastic Large Cell Lymphoma +

Juvenile Myelomonocytic Leukemia +

Acute Leukemia +

Myelofibrosis +

Marginal Zone Lymphoma +

Myelodysplastic/Myeloproliferative Neoplasm +

Secondary Acute Myeloid Leukemia +

Small Lymphocytic Lymphoma +

Colorectal Carcinoma +

Diffuse Large B-Cell Lymphoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Head And Neck Squamous Cell Carcinoma +

Prolymphocytic Leukemia +

Refractory Anemia With Excess Blasts +

High Grade Ovarian Serous Adenocarcinoma +

Glioblastoma +

Prostate Carcinoma +

Acute Myeloid Leukemia Arising From Previous Myelodysplastic Syndrome +

Double-Hit Lymphoma +

Medulloblastoma, Non-WNT/Non-SHH +

Plasma Cell Leukemia +

Endometrial Serous Adenocarcinoma +

Esophageal Squamous Cell Carcinoma +

Small Cell Lung Carcinoma +

Anaplastic Astrocytoma +

Gastric Adenocarcinoma +

Bladder Carcinoma +

Urothelial Carcinoma +

B-Cell Non-Hodgkin Lymphoma +

Fallopian Tube Carcinoma +

Lymphoblastic Lymphoma +

Lymphoplasmacytic Lymphoma +

Mixed Phenotype Acute Leukemia +

Myelodysplastic Syndrome With Excess Blasts-2 +

Primary Peritoneal Carcinoma +

T-Cell Acute Lymphoblastic Leukemia +

T-Cell Lymphoblastic Leukemia/Lymphoma +

Therapy-Related Acute Myeloid Leukemia +

Therapy-Related Myelodysplastic Syndrome +

Squamous Cell Lung Carcinoma +

Colorectal Adenocarcinoma +

Pancreatic Carcinoma +

Melanoma +

Leukemia +

Central Nervous System Embryonal Neoplasm +

Peripheral T-Cell Lymphoma +

B-Cell Acute Lymphoblastic Leukemia +

Acute Undifferentiated Leukemia +

Burkitt Leukemia +

Central Nervous System Ganglioneuroblastoma +

Central Nervous System Neuroblastoma +

Desmoplastic/Nodular Medulloblastoma +

High Grade Fallopian Tube Serous Adenocarcinoma +

Large Cell/Anaplastic Medulloblastoma +

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

Mature T-Cell And NK-Cell Neoplasm +

Medulloblastoma With Extensive Nodularity +

Medulloblastoma, SHH-Activated +

Medulloblastoma, WNT-Activated +

Medulloepithelioma +

Natural Killer Cell Lymphoblastic Leukemia/Lymphoma +

Primary Peritoneal Serous Adenocarcinoma +

Refractory Anemia +

Anaplastic Oligoastrocytoma +

Esophageal Carcinoma +

Pancreatic Ductal Adenocarcinoma +

Esophageal Adenocarcinoma +

Uterine Carcinosarcoma +

Ovarian Serous Tumor +

Malignant Intestinal Neoplasm +

Malignant Esophagogastric Neoplasm +

Pancreatic Adenocarcinoma +

Gliosarcoma +

Gastric Carcinoma +

Malignant Gastric Neoplasm +

Malignant Small Intestinal Neoplasm +

Transitional Cell Carcinoma +

Cancer +

Malignant Glioma +

Penile Carcinoma +

Diffuse Glioma +

Endometrial Carcinoma +

Cholangiocarcinoma +

Prostate Adenocarcinoma +

Sarcoma +

Ovarian Endometrioid Adenocarcinoma +

Soft Tissue Sarcoma +

Cervical Carcinoma +

Myeloid Neoplasm +

Rhabdomyosarcoma +

Ewing Sarcoma +

Anaplastic Ependymoma +

Anal Carcinoma +

Malignant Testicular Neoplasm +

Anaplastic Oligodendroglioma +

Kidney Carcinoma +

T-Cell Non-Hodgkin Lymphoma +

Clear Cell Renal Cell Carcinoma +

Adenoid Cystic Carcinoma +

Gastrointestinal Stromal Tumor +

Acute Bilineal Leukemia +

Acute Erythroid Leukemia +

Acute Leukemia Of Ambiguous Lineage +

Acute Megakaryoblastic Leukemia +

Acute Myeloid Leukemia With Myelodysplasia-Related Changes +

Acute Promyelocytic Leukemia +

Adult Acute Lymphoblastic Leukemia +

Adult T-Cell Leukemia/Lymphoma +

Ampulla Of Vater Carcinoma +

Anaplastic Astrocytoma, IDH-Mutant +

Anaplastic Oligodendroglioma, IDH-Mutant And 1p/19q-Codeleted +

Anaplastic Pleomorphic Xanthoastrocytoma +

Aplastic Anemia +

Atypical Teratoid/Rhabdoid Tumor +

B-Cell Prolymphocytic Leukemia +

Breast Lobular Carcinoma In Situ +

Desmoplastic Small Round Cell Tumor +

Diffuse Midline Glioma, H3 K27M-Mutant +

Embryonal Tumor With Multilayered Rosettes, C19MC-Altered +

Embryonal Tumor With Multilayered Rosettes, Not Otherwise Specified +

Ependymoma +

Ependymoma, RELA Fusion-Positive +

Fallopian Tube Endometrioid Adenocarcinoma +

Gastric Squamous Cell Carcinoma +

Head And Neck Carcinoma +

Hereditary Breast And Ovarian Cancer Syndrome +

High-Grade Glioma, NOS +

Histiocytic And Dendritic Cell Neoplasm +

Indolent Non-Hodgkin Lymphoma +

Intracranial Primitive Neuroectodermal Neoplasm +

Mature B-Cell Lymphoma/Leukemia +

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

Mediastinal Large B-Cell Lymphoma +

Myelodysplastic/Myeloproliferative Neoplasm, Unclassifiable +

Myeloid Sarcoma +

Neuroblastoma +

Pineoblastoma +

Plasma Cell Neoplasm +

Polycythemia Vera +

Primary Myelofibrosis +

Primary Peritoneal Endometrioid Adenocarcinoma +

Secondary Myelodysplastic Syndrome +

Small Lymphocytic Leukemia +

Smoldering Plasma Cell Myeloma +

T-Cell Prolymphocytic Leukemia +

Therapy-Related Chronic Myelomonocytic Leukemia +

Vaginal Carcinoma +

Vulvar Carcinoma +

WHO Grade III Glioma +

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. 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.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.