Associated Genetic Biomarkers
Associated Diseases
Associated Pathways

Overview

Location [1]
17p13.1
Pathway
Cell cycle control
Protein [2]
Cellular tumor antigen p53
Synonyms [1]
P53, BMFS5, BCC7, TRP53, LFS1

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 39.52% of all cancers with lung adenocarcinoma, colon adenocarcinoma, breast invasive ductal carcinoma, pancreatic adenocarcinoma, and high grade ovarian serous adenocarcinoma having the greatest prevalence of alterations [3].

TP53 GENIE Cases - Top Diseases

The most common alterations in TP53 are TP53 Mutation (32.56%), TP53 Missense (26.61%), TP53 c.217-c.1178 Missense (26.50%), TP53 Exon 5 Mutation (9.30%), and TP53 Exon 8 Mutation (8.49%) [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 +

Medulloblastoma +

Burkitt Lymphoma +

Lymphoma +

Ovarian Carcinoma +

Secondary Acute Myeloid Leukemia +

Breast Carcinoma +

Acute Leukemia +

Follicular Lymphoma +

Anaplastic Large Cell Lymphoma +

Myelodysplastic/Myeloproliferative Neoplasm +

Myeloproliferative Neoplasm +

Juvenile Myelomonocytic Leukemia +

Myelofibrosis +

Marginal Zone Lymphoma +

Small Lymphocytic Lymphoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Colorectal Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Prolymphocytic Leukemia +

Prostate Carcinoma +

Diffuse Large B-Cell Lymphoma +

Refractory Anemia With Excess Blasts +

High Grade Ovarian Serous Adenocarcinoma +

Glioblastoma +

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 +

Fallopian Tube Carcinoma +

Small Cell Lung Carcinoma +

Squamous Cell Lung Carcinoma +

Anaplastic Astrocytoma +

Gastric Adenocarcinoma +

Primary Peritoneal Carcinoma +

Bladder Carcinoma +

Urothelial Carcinoma +

Therapy-Related Acute Myeloid Leukemia +

Therapy-Related Myelodysplastic Syndrome +

Myelodysplastic Syndrome With Excess Blasts-2 +

B-Cell Non-Hodgkin Lymphoma +

Mixed Phenotype Acute Leukemia +

Lymphoplasmacytic Lymphoma +

T-Cell Lymphoblastic Leukemia/Lymphoma +

Lymphoblastic Lymphoma +

Medulloblastoma, WNT-Activated +

T-Cell Acute Lymphoblastic Leukemia +

High Grade Fallopian Tube Serous Adenocarcinoma +

Colorectal Adenocarcinoma +

Pancreatic Carcinoma +

Medulloepithelioma +

Primary Peritoneal Serous Adenocarcinoma +

Large Cell/Anaplastic Medulloblastoma +

Acute Undifferentiated Leukemia +

Melanoma +

Leukemia +

Central Nervous System Embryonal Neoplasm +

Mature T-Cell And NK-Cell Neoplasm +

Desmoplastic/Nodular Medulloblastoma +

B-Cell Acute Lymphoblastic Leukemia +

Burkitt Leukemia +

Central Nervous System Ganglioneuroblastoma +

Central Nervous System Neuroblastoma +

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

Medulloblastoma With Extensive Nodularity +

Medulloblastoma, SHH-Activated +

Natural Killer Cell Lymphoblastic Leukemia/Lymphoma +

Peripheral T-Cell Lymphoma +

Refractory Anemia +

Uterine Carcinosarcoma +

Esophageal Carcinoma +

Esophageal Adenocarcinoma +

Anaplastic Oligoastrocytoma +

Ovarian Serous Tumor +

Malignant Intestinal Neoplasm +

Malignant Esophagogastric Neoplasm +

Pancreatic Adenocarcinoma +

Gliosarcoma +

Pancreatic Ductal Adenocarcinoma +

Ampulla Of Vater Carcinoma +

Gastric Carcinoma +

Malignant Gastric Neoplasm +

WHO Grade III Glioma +

Malignant Small Intestinal Neoplasm +

Transitional Cell Carcinoma +

Diffuse Midline Glioma, H3 K27M-Mutant +

Lung Adenocarcinoma +

Vaginal Carcinoma +

Malignant Glioma +

Endometrial Carcinoma +

Diffuse Glioma +

Secondary Myelodysplastic Syndrome +

Cancer +

High-Grade Glioma, NOS +

Head And Neck Carcinoma +

Adult T-Cell Leukemia/Lymphoma +

Breast Lobular Carcinoma In Situ +

Penile Carcinoma +

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 +

Cervical Carcinoma +

Acute Leukemia Of Ambiguous Lineage +

Soft Tissue Sarcoma +

Malignant Testicular Neoplasm +

Ewing Sarcoma +

Anaplastic Oligodendroglioma +

Myeloid Neoplasm +

Rhabdomyosarcoma +

Anal Carcinoma +

Anaplastic Ependymoma +

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

T-Cell Non-Hodgkin Lymphoma +

Anaplastic Pleomorphic Xanthoastrocytoma +

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 +

Ependymoma +

Histiocytic And Dendritic Cell Neoplasm +

Acute Bilineal Leukemia +

Acute Erythroid Leukemia +

Acute Promyelocytic Leukemia +

Adult Acute Lymphoblastic Leukemia +

Anaplastic Astrocytoma, IDH-Mutant +

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

Aplastic Anemia +

Atypical Teratoid/Rhabdoid Tumor +

B-Cell Prolymphocytic Leukemia +

Embryonal Tumor With Multilayered Rosettes, C19MC-Altered +

Embryonal Tumor With Multilayered Rosettes, Not Otherwise Specified +

Ependymoma, RELA Fusion-Positive +

Fallopian Tube Endometrioid Adenocarcinoma +

Gastric Squamous Cell Carcinoma +

Hereditary Breast And Ovarian Cancer Syndrome +

Intracranial Primitive Neuroectodermal Neoplasm +

Mature B-Cell Lymphoma/Leukemia +

Myeloid Sarcoma +

Pineoblastoma +

Primary Peritoneal Endometrioid Adenocarcinoma +

Small Lymphocytic Leukemia +

Smoldering Plasma Cell Myeloma +

Therapy-Related Chronic Myelomonocytic Leukemia +

Vulvar Carcinoma +

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 8. 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.