Associated Genetic Biomarkers
Associated Diseases
Associated Pathways

Overview

Location [1]
17p13.1
Pathway
Cell cycle control
Protein [2]
Cellular tumor antigen p53
Synonyms [1]
LFS1, BCC7, P53, 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 39.49% of all cancers with non-small cell lung carcinoma, colorectal adenocarcinoma, breast carcinoma, ovarian neoplasm, and pancreatic exocrine neoplasm having the greatest prevalence of alterations [3].

TP53 GENIE Cases - Top Diseases

The most common alterations in TP53 are TP53 Mutation (51.27%), TP53 Missense (37.33%), TP53 c.1-c.137 Missense (37.33%), TP53 c.142-c.212 Missense (37.33%), and TP53 c.217-c.1178 Missense (37.33%) [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 +

Multiple Myeloma +

Non-Hodgkin Lymphoma +

Hodgkin Lymphoma +

Chronic Myelomonocytic Leukemia +

Mantle Cell Lymphoma +

Burkitt Lymphoma +

Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma +

Acute Biphenotypic Leukemia +

Malignant Solid Tumor +

Follicular Lymphoma +

Lymphoma +

Acute Leukemia +

Marginal Zone Lymphoma +

Anaplastic Large Cell Lymphoma +

Myeloproliferative Neoplasm +

Myelodysplastic/Myeloproliferative Neoplasm +

Prolymphocytic Leukemia +

Ovarian Carcinoma +

Non-Small Cell Lung Carcinoma +

Juvenile Myelomonocytic Leukemia +

Small Lymphocytic Lymphoma +

Myelofibrosis +

Lymphoplasmacytic Lymphoma +

Head And Neck Squamous Cell Carcinoma +

Diffuse Large B-Cell Lymphoma +

Plasma Cell Leukemia +

Breast Carcinoma +

Double-Hit Lymphoma +

Lymphoblastic Lymphoma +

Refractory Anemia With Excess Blasts +

Colorectal Carcinoma +

B-Cell Non-Hodgkin Lymphoma +

T-Cell Non-Hodgkin Lymphoma +

Fallopian Tube Carcinoma +

Primary Peritoneal Carcinoma +

T-Cell Lymphoblastic Leukemia/Lymphoma +

Small Cell Lung Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Pancreatic Carcinoma +

Gastric Adenocarcinoma +

Glioblastoma +

Prostate Carcinoma +

Peripheral T-Cell Lymphoma +

Hematopoietic And Lymphoid Malignancy +

Acute Leukemia Of Ambiguous Lineage +

Burkitt Leukemia +

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

Mature T-Cell And NK-Cell Neoplasm +

Myeloid Sarcoma +

Myeloma +

Natural Killer Cell Lymphoblastic Leukemia/Lymphoma +

Primary Myelofibrosis +

Refractory Anemia With Excess Blasts-2 +

Breast Lobular Carcinoma In Situ +

High Grade Ovarian Serous Adenocarcinoma +

Esophageal Squamous Cell Carcinoma +

Vaginal Carcinoma +

Colorectal Adenocarcinoma +

Anaplastic Astrocytoma +

Bladder Carcinoma +

Bladder Urothelial Carcinoma +

Urothelial Carcinoma +

Infiltrating Renal Pelvis And Ureter Urothelial Carcinoma +

Penile Carcinoma +

Head And Neck Carcinoma +

Cancer +

Cholangiocarcinoma +

Sarcoma +

Melanoma +

Aggressive Non-Hodgkin Lymphoma +

Soft Tissue Sarcoma +

Cervical Carcinoma +

Ewing Sarcoma +

Rhabdomyosarcoma +

Leukemia +

Anal Carcinoma +

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

Neuroblastoma +

Acute Erythroid Leukemia +

Acute Megakaryoblastic Leukemia +

Acute Myeloid Leukemia With Myelodysplasia-Related Changes +

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 +

Ovarian Serous Tumor +

Plasma Cell Neoplasm +

Polycythemia Vera +

Refractory Anemia +

Renal Pelvis Urothelial Carcinoma +

Secondary Acute Myeloid Leukemia +

Secondary Myelodysplastic Syndrome +

Small Lymphocytic Leukemia +

Smoldering Plasma Cell Myeloma +

T-Cell Prolymphocytic Leukemia +

T-Cell And NK-Cell Neoplasm +

Therapy-Related Acute Myeloid Leukemia +

Ureter Urothelial Carcinoma +

Vulvar 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. 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.

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