TP53, tumor protein p53, 7157

N. diseases: 2494; N. variants: 527
Disease: Li-Fraumeni Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587782144
rs587782144
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		T 0.810 CausalMutation CLINVAR Prevalence and functional consequence of TP53 mutations in pediatric adrenocortical carcinoma: a children's oncology group study. 25584008 2015
dbSNP: rs587782144
rs587782144
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		A 0.810 CausalMutation CLINVAR Are there low-penetrance TP53 Alleles? evidence from childhood adrenocortical tumors. 10486318 1999
dbSNP: rs587782144
rs587782144
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		T 0.810 GeneticVariation CLINVAR The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 28349240 2017
dbSNP: rs587782144
rs587782144
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		A 0.810 CausalMutation CLINVAR A global suppressor motif for p53 cancer mutants. 15037740 2004
dbSNP: rs587782144
rs587782144
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		A 0.810 CausalMutation CLINVAR Differentially expressed downstream genes in cells with normal or mutated p53. 12725534 2003
dbSNP: rs587782144
rs587782144
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		T 0.810 CausalMutation CLINVAR Lack of toxicity in a patient with germline TP53 mutation treated with radiotherapy. 24764719 2014
dbSNP: rs587782144
rs587782144
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		0.810 GeneticVariation UNIPROT A germ line mutation in exon 5 of the p53 gene in an extended cancer family. 1933902 1991
dbSNP: rs587782144
rs587782144
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		T 0.810 CausalMutation CLINVAR Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes. 21343334 2011
dbSNP: rs587782144
rs587782144
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		T 0.810 GeneticVariation CLINVAR Lack of toxicity in a patient with germline TP53 mutation treated with radiotherapy. 24764719 2014
dbSNP: rs587782144
rs587782144
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		T 0.810 CausalMutation CLINVAR Are there low-penetrance TP53 Alleles? evidence from childhood adrenocortical tumors. 10486318 1999
dbSNP: rs587782144
rs587782144
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		0.810 GeneticVariation UNIPROT An extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53. 8825920 1995
dbSNP: rs587782144
rs587782144
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		T 0.810 CausalMutation CLINVAR Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome. 18685109 2008
dbSNP: rs587782144
rs587782144
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		0.810 GeneticVariation UNIPROT American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. 24493721 2014
dbSNP: rs587782144
rs587782144
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		0.810 GeneticVariation UNIPROT Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. 1978757 1990
dbSNP: rs587782144
rs587782144
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		T 0.810 CausalMutation CLINVAR P53 germline mutations in childhood cancers and cancer risk for carrier individuals. 10864200 2000
dbSNP: rs587782144
rs587782144
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		T 0.810 CausalMutation CLINVAR TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes. 20522432 2010
dbSNP: rs587782144
rs587782144
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		T 0.810 CausalMutation CLINVAR Novel p53 mutants selected in BRCA-associated tumours which dissociate transformation suppression from other wild-type p53 functions. 10229196 1999
dbSNP: rs587782144
rs587782144
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		A 0.810 CausalMutation CLINVAR One index case with glioblastoma multiforme (GBM) diagnosed at age 54 and had a family history comprised of a paternal aunt with GBM at age 55, carried the p53 R158H mutation, which is predicted to be functional and has previously been implicated as a cause of Li-Fraumeni syndrome. 20455025 2010
dbSNP: rs587782144
rs587782144
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		T 0.810 CausalMutation CLINVAR Transcriptional functionality of germ line p53 mutants influences cancer phenotype. 17606709 2007
dbSNP: rs587782144
rs587782144
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		T 0.810 GeneticVariation CLINVAR Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes. 21343334 2011
dbSNP: rs587782144
rs587782144
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		T 0.810 GeneticVariation CLINVAR Prevalence and functional consequence of TP53 mutations in pediatric adrenocortical carcinoma: a children's oncology group study. 25584008 2015
dbSNP: rs587782144
rs587782144
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		A 0.810 CausalMutation CLINVAR Predicting positive p53 cancer rescue regions using Most Informative Positive (MIP) active learning. 19756158 2009
dbSNP: rs587782144
rs587782144
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		T 0.810 CausalMutation CLINVAR Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis. 12826609 2003
dbSNP: rs587782144
rs587782144
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		0.810 GeneticVariation UNIPROT Germline mutations of the p53 tumor-suppressor gene in children and young adults with second malignant neoplasms. 1565144 1992
dbSNP: rs587782144
rs587782144
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		T 0.810 CausalMutation CLINVAR Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers. 26014290 2015