TP53, tumor protein p53, 7157

N. diseases: 84; N. variants: 390
Disease: Li-Fraumeni Syndrome ×
Source: CLINVAR ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587782596
rs587782596
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		A 0.800 CausalMutation CLINVAR Genomic analysis of inherited breast cancer among Palestinian women: Genetic heterogeneity and a founder mutation in TP53. 28486781 2017
dbSNP: rs587782596
rs587782596
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		A 0.800 CausalMutation CLINVAR Recurrent TP53 missense mutation in cancer patients of Arab descent. 27866339 2017
dbSNP: rs587782596
rs587782596
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		A 0.800 CausalMutation CLINVAR Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: 11 year follow-up of a prospective observational study. 27501770 2016
dbSNP: rs587782596
rs587782596
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		A 0.800 CausalMutation CLINVAR Increased oxidative metabolism in the Li-Fraumeni syndrome. 23484829 2013
dbSNP: rs587782596
rs587782596
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		A 0.800 CausalMutation CLINVAR Prevalence of germline TP53 mutations in a prospective series of unselected patients with adrenocortical carcinoma. 23175693 2013
dbSNP: rs587782596
rs587782596
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		A 0.800 CausalMutation CLINVAR Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes. 21343334 2011
dbSNP: rs587782596
rs587782596
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		A 0.800 CausalMutation CLINVAR Radio-induced malignancies after breast cancer postoperative radiotherapy in patients with Li-Fraumeni syndrome. 21059199 2010
dbSNP: rs587782596
rs587782596
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		A 0.800 CausalMutation CLINVAR Analysis of the DNA-binding activity of p53 mutants using functional protein microarrays and its relationship to transcriptional activation. 20128691 2010
dbSNP: rs587782596
rs587782596
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		A 0.800 CausalMutation CLINVAR DNA binding cooperativity of p53 modulates the decision between cell-cycle arrest and apoptosis. 20471942 2010
dbSNP: rs587782596
rs587782596
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		A 0.800 CausalMutation CLINVAR Transcriptional functionality of germ line p53 mutants influences cancer phenotype. 17606709 2007
dbSNP: rs587782596
rs587782596
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		A 0.800 CausalMutation CLINVAR Characterization of the p53 mutants ability to inhibit p73 beta transactivation using a yeast-based functional assay. 12917626 2003
dbSNP: rs587782596
rs587782596
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		A 0.800 CausalMutation CLINVAR Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis. 12826609 2003
dbSNP: rs587782596
rs587782596
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		A 0.800 CausalMutation CLINVAR Tumour p53 mutations exhibit promoter selective dominance over wild type p53. 11896595 2002
dbSNP: rs587782596
rs587782596
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		A 0.800 CausalMutation CLINVAR p53 mutants can often transactivate promoters containing a p21 but not Bax or PIG3 responsive elements. 11429705 2001
dbSNP: rs587782596
rs587782596
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		A 0.800 CausalMutation CLINVAR Screening for germ line TP53 mutations in breast cancer patients. 1591732 1992
dbSNP: rs587782596
rs587782596
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		A 0.800 CausalMutation CLINVAR Inherited p53 gene mutations in breast cancer. 1581912 1992