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. (Wang, et al. 2018) The TP53 protein product is involved in regulating the cell cycle pathway and can prevent replication if cell damage has occurred. (Hampp, et al. 2016) Deletions, LOH, and loss of function (LOF) mutations have been associated with TP53. These alterations often confer a poor prognosis [CITE] and chemoresistance [CITE].

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

Cited Refereces

1. Hampp S, et al. DNA damage tolerance pathway involving DNA polymerase ι and the tumor suppressor p53 regulates DNA replication fork progression. PNAS 2016 Jul 26; 113(30): E4311-9. doi: 10.1073/pnas.1605828113.

2. Wang M, et al. Characterizing genomic differences of human cancer stratified by the TP53 mutation status. Mol Genet Genomics. 2018 Jan 12. doi: 10.1007/s00438-018-1416-7. [Epub ahead of print]

Notes

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