rs28934575, TP53

N. diseases: 37
Disease: Neoplasms ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.740 GeneticVariation BEFREE TP53 G245C and R273H point mutations are two of the most frequent mutations in tumors and have been verified in several different cancers. 30126368 2018
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.740 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.740 GeneticVariation BEFREE In contrast, G245S/- mice were similar to null mice in tumor latency and survival. 23538418 2013
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.740 GeneticVariation BEFREE The patient harbored a germline TP53 G245C mutation, and the primary tumor showed loss of heterozygosity with retention of the mutated TP53 allele. 23406775 2013
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.740 GeneticVariation BEFREE Mutations in ATRX (α-thalassaemia/mental retardation syndrome X-linked) and DAXX (death-domain associated protein), encoding two subunits of a chromatin remodelling complex required for H3.3 incorporation at pericentric heterochromatin and telomeres, were identified in 31% of samples overall, and in 100% of tumours harbouring a G34R or G34V H3.3 mutation. 22286061 2012
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.740 GeneticVariation CLINVAR Structural basis for understanding oncogenic p53 mutations and designing rescue drugs. 17015838 2006