TP53

Primary Author(s)*

Beth Pitel, MS, ASCP(CG)CM

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

Universal tumor suppressor associated with many cancer types.

Gene Overview

The TP53 gene is well-known tumor suppressor gene that has been implicated in many cancer types [1]. The TP53 protein product is involved in regulating the cell cycle pathway and can prevent replication if cell damage has occurred [2]. Deletions, LOH, and loss of function (LOF) mutations have been associated with TP53. These alterations often confer a poor prognosis and chemoresistance.

Most common types of alterations observed in TP53

Put your text here and/or fill in the table

Copy Number Loss	Copy Number Gain	LOH	Loss of function mutation	Activating mutation	Translocation/Fusion
X		X	X

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. 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.

Notes

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