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Symbol TP53 contributors: mct/ - updated : 22-11-2019
HGNC name tumor protein p53
HGNC id 11998
corresponding disease(s) LFS1 , DEL17P131 , DKC8
related resource p53 Mutation Database Analysis & Search
IARC TP53 Mutation Database: Human somatic and germline TP53 mutations compiled from the literature
p53 Mutation in Human Cancer
Database of Germline p53 Mutations
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral somatic mutation      
in pancreas and endometrial carcinomas, in Barrett's adenocarcinoma (and esophageal squamous cell carcinoma), in hepatocellular carcinoma with poor prognosis and in Merckel cell carcinoma
tumoral   LOH    
in both APC and TP53 in colorectal tumors and TP53 only in hepatocellular carcinoma
tumoral       loss of function
in breast, adrenal, brain tumors
tumoral somatic mutation      
in basal cell carcinoma (BCC) of the skin
tumoral       loss of function
biallelic inactivation of derived from two distinct events, the germinative Arg337His mutation and the acquired loss of the entire chromosome 17, in adrenocortical tumor
tumoral fusion      
TP53/FXR2 fusion protein lacks the ability of wild-type TP53 to function as a transcription factor; TP53/FXR2 gene is the first reported TP53 fusion gene in acute megakaryoblastic leukemia cell
tumoral       loss of function
leading to depletion of mtDNA in breast cancer
tumoral     --over  
of KIT, TP53, and MKI67 reflects tumor grade and predicts survival in neuroendocrine carcinomas, but fail as prognostic markers in the subset of small cell lung cancer patients
tumoral germinal mutation     loss of function
in patients with primary ovarian, fallopian tube, or peritoneal cancers
  • to pancreatic cancer
  • to cancer
  • Variant & Polymorphism SNP
  • rs78378222 in the 3 prime untranslated region of TP53, that changes the AATAAA polyadenylation signal to AATACA associated to cutaneous basal cell carcinoma, prostate and colorectal adenoma
  • Candidate gene embryo implantation failure in human
    Therapy target
    PRIMA-1 (TP53-reactivation and induction of massive apoptosis) treatment could represent an interesting tool to reduce the level of mutant TP53 and kill cancer cells
    management of a therapeutic approach based on the reversal of epigenetic silencing of the crucial genes involved in regulatory pathways of the tumor suppressor TP53
  • essential role in regulating embryo implantation in mice through LIF transcription regulation
  • in Wdr74-deficient mouse embryos blocking Trp53 function rescues blastocyst formation and lineage differentiation