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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