TP53, tumor protein p53, 7157

N. diseases: 2494; N. variants: 527
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.800 GeneticVariation disease CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.800 GeneticVariation disease BEFREE Here, we review ∼15 years of research into an unusual germline TP53 mutation (p.R337H) that began with its detection in children with adrenocortical carcinoma (ACC), a remarkably rare childhood cancer that is associated with poor prognosis. 27663983 2016
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.800 Biomarker disease BEFREE The adrenocortical carcinoma showed positive staining for both p53 and cyclin D1 and a high Ki-67 index of 60%. 28095038 2017
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.800 GeneticVariation disease BEFREE The low rate of cure of adrenocortical carcinomas (ACC) in children and adults is related to germ line TP53 mutation, late diagnosis, incomplete surgical resection, and lack of an efficient adjunctive therapy. 29372993 2017
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.800 GeneticVariation disease BEFREE A Novel TP53 Mutation Associated with TWIST1 and SIP1 Expression in an Aggressive Adrenocortical Carcinoma. 28421464 2017