TP53

Primary Author(s)*

Beth Pitel, MS, ASCP(CG)CM Jennelle C, Hodge, PhD

Synonyms

Tumor protein p53, LFS1, p53, BCC7, TRP53

Genomic Location

Cytoband: 17p13.1

Genomic Coordinates:

chr17:7,571,720-7,590,868 [hg19]

chr17:7,668,402-7,687,538 [hg38]

Cancer Category/Type

Nearly universal involvement in diverse cancer types.

Gene Overview

The TP53 protein product is involved in regulating the cell cycle pathway and can prevent replication if cell damage has occurred [1, 2]. TP53 has been implicated in many cancer types, and is classically considered the prototypic tumor suppressor gene [3, 4]. Inactivating mutations resulting in loss of p53 function, including deletions, LOH, and loss of function (LOF) alterations often confer a poor prognosis and chemoresistance. Alternatively, gain-of-function mutations promoting the expression and stability of the p53 protein in the nucleus can also lead to oncogenic effects, including genomic instability and excessive cell proliferation [5].

Common Alteration Types

Copy Number Loss	Copy Number Gain	LOH	Loss-of-Function Mutation	Activating Mutation	Translocation/Fusion
X		X	X	X

Internal Pages

Germline Cancer Predisposition Genes

External Links

TP53 by Atlas of Genetics and Cytogenetics in Oncology and Haematology - detailed gene information

TP53 by COSMIC - sequence information, expression, catalogue of mutations

TP53 by CIViC - general knowledge and evidence-based variant specific information

TP53 by IARC - TP53 database with reference sequences and mutational landscape

TP53 by St. Jude ProteinPaint mutational landscape and matched expression data.

TP53 by Precision Medicine Knowledgebase (Weill Cornell) - manually vetted interpretations of variants and CNVs

TP53 by Cancer Index - gene, pathway, publication information matched to cancer type

TP53 by OncoKB - mutational landscape, mutation effect, variant classification

TP53 by My Cancer Genome - brief gene overview

TP53 by UniProt - protein and molecular structure and function

TP53 by Pfam - gene and protein structure and function information

TP53 by GeneCards - general gene information and summaries

GeneReviews - information on Li Fraumeni Syndrome

References

1. Hampp S, et al., (2016). DNA damage tolerance pathway involving DNA polymerase ι and the tumor suppressor p53 regulates DNA replication fork progression. PNAS 113(30): E4311-4319, PMID 27407148.

2. Levine AJ. (1997). p53, the cellular gatekeeper for growth and division. Cell 88(3):323-231, PMID 9039259.

3. Wang M, et al., (2018). Characterizing genomic differences of human cancer stratified by the TP53 mutation status. Mol Genet Genomics doi: 10.1007/s00438-018-1416-7 [Epub ahead of print], PMID 29330617.

4. Kato S, et al., (2003). Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis. Proc Natl Acad Sci U S A 100(14):8424-8429, PMID 12826609.

5. Olivier M, et al., (2009). Recent advances in p53 research: an interdisciplinary perspective. Cancer Gene Ther 16(1):1-12, PMID 18802452.

Notes

*Primary authors will typically be those that initially create and complete the content of a page. If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the CCGA coordinators (contact information provided on the homepage). Additional global feedback or concerns are also welcome.