Gene: TP53 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7157
Gene Symbol: TP53
TP53 		1.000 GeneticVariation disease BEFREE No constitutional p53 mutations were detected in any of these patients, implying that outside the clinical spectrum of LFS, constitutional p53 mutations are rare in patients with lymphomas. 10539880 1999
Entrez Id: 7157
Gene Symbol: TP53
TP53 		1.000 Biomarker disease MGD
Entrez Id: 7157
Gene Symbol: TP53
TP53 		1.000 GeneticVariation disease BEFREE This is, to our knowledge, the largest single report of diagnostic testing for germline p53 mutations, yielding practical mutation prevalence tables and suggesting clinical utility of classic LFS and Chompret criteria for identifying a subset of cancer-prone families with p53 germline mutations, with important implications for diagnosis and management. 19204208 2009
Entrez Id: 7157
Gene Symbol: TP53
TP53 		1.000 GeneticVariation disease CLINVAR Anaplastic Wilms' tumour, a subtype displaying poor prognosis, harbours p53 gene mutations. 8075648 1994
Entrez Id: 7157
Gene Symbol: TP53
TP53 		1.000 GeneticVariation disease CLINVAR EGFR-mutant lung adenocarcinoma in a patient with Li-Fraumeni syndrome. 17540308 2007
Entrez Id: 7157
Gene Symbol: TP53
TP53 		1.000 GeneticVariation disease BEFREE Five immortal cell lines derived from a Li-Fraumeni syndrome patient (MDAH 087) with a germline mutant p53 allele were characterized with respect to telomere length and genomic instability. 12771041 2003
Entrez Id: 7157
Gene Symbol: TP53
TP53 		1.000 CausalMutation disease CLINVAR Tumour p53 mutations exhibit promoter selective dominance over wild type p53. 11896595 2002
Entrez Id: 7157
Gene Symbol: TP53
TP53 		1.000 CausalMutation disease CLINVAR Heterogeneity in Li-Fraumeni families: p53 mutation analysis and immunohistochemical staining. 7783166 1995
Entrez Id: 7157
Gene Symbol: TP53
TP53 		1.000 GeneticVariation disease CLINVAR Alteration of p53 gene in ovarian carcinoma: clinicopathological correlation and prognostic significance. 7981076 1994
Entrez Id: 7157
Gene Symbol: TP53
TP53 		1.000 CausalMutation disease CLINVAR Germ-line mutations of TP53 in Li-Fraumeni families: an extended study of 39 families. 9242456 1997
Entrez Id: 7157
Gene Symbol: TP53
TP53 		1.000 GeneticVariation disease CLINVAR Mapping the p53 transcriptome universe using p53 natural polymorphs. 24076587 2014
Entrez Id: 7157
Gene Symbol: TP53
TP53 		1.000 AlteredExpression disease BEFREE To test our hypothesis that changes in gene expression beyond p53 per se are contributing to the development of tumors, we compared gene expression in non-cancerous skin fibroblasts of LFS-affected (p53 heterozygous) vs. non-affected (p53 wild-type homozygous) family members. 23114650 2013
Entrez Id: 7157
Gene Symbol: TP53
TP53 		1.000 CausalMutation disease CLINVAR Rapid profiling of disease alleles using a tunable reporter of protein misfolding. 22923379 2012
Entrez Id: 7157
Gene Symbol: TP53
TP53 		1.000 GeneticVariation disease BEFREE In contrast to the accepted concept that p53 homozygous mutant mice do not accumulate mutant p53 in normal cells, our study on a mutant p53 mouse model of Li-Fraumeni syndrome harbouring the hot-spot p53R172H mutation described an elevated level of mutant p53 in non-cancerous mouse tissues. 27869164 2017
Entrez Id: 7157
Gene Symbol: TP53
TP53 		1.000 CausalMutation disease CLINVAR Crystal structure of a p53 tumor suppressor-DNA complex: understanding tumorigenic mutations. 8023157 1994
Entrez Id: 7157
Gene Symbol: TP53
TP53 		1.000 CausalMutation disease CLINVAR Number of rare germline CNVs and TP53 mutation types. 23259501 2012
Entrez Id: 7157
Gene Symbol: TP53
TP53 		1.000 GeneticVariation disease CLINVAR A de novo p53 germline mutation affecting codon 151 in a six year old child with multiple tumors. 7881428 1994
Entrez Id: 7157
Gene Symbol: TP53
TP53 		1.000 GeneticVariation disease CLINVAR p53 mutants can often transactivate promoters containing a p21 but not Bax or PIG3 responsive elements. 11429705 2001
Entrez Id: 7157
Gene Symbol: TP53
TP53 		1.000 CausalMutation disease CLINVAR Novel p53 mutants selected in BRCA-associated tumours which dissociate transformation suppression from other wild-type p53 functions. 10229196 1999
Entrez Id: 7157
Gene Symbol: TP53
TP53 		1.000 GeneticVariation disease BEFREE A germline 2.35 kb deletion of p53 genomic DNA creating a specific loss of the oligomerization domain inherited in a Li-Fraumeni syndrome family. 7936651 1994
Entrez Id: 7157
Gene Symbol: TP53
TP53 		1.000 CausalMutation disease CLINVAR Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families. 8118819 1994
Entrez Id: 7157
Gene Symbol: TP53
TP53 		1.000 CausalMutation disease CLINVAR Quantitative analysis of residual folding and DNA binding in mutant p53 core domain: definition of mutant states for rescue in cancer therapy. 10713666 2000
Entrez Id: 7157
Gene Symbol: TP53
TP53 		1.000 CausalMutation disease CLINVAR A Japanese patient with Li-Fraumeni syndrome who had nine primary malignancies associated with a germline mutation of the p53 tumor-suppressor gene. 18307025 2008
Entrez Id: 7157
Gene Symbol: TP53
TP53 		1.000 GeneticVariation disease CLINVAR Identification of a tumor-derived p53 mutant with novel transactivating selectivity. 10871862 2000
Entrez Id: 7157
Gene Symbol: TP53
TP53 		1.000 CausalMutation disease CLINVAR The Clinical Utility of Next Generation Sequencing Results in a Community-Based Hereditary Cancer Risk Program. 27276934 2017