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
=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
*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.