rs11540652, TP53

N. diseases: 57
Disease: Colorectal Carcinoma ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.710 GeneticVariation BEFREE We show that the most common mutp53 allele R248Q (p53<sup>Q</sup>) exerts gain of function (GOF) and creates tumor dependence in mouse CRC models. mutp53 protein binds Stat3 and enhances activating Stat3 phosphorylation by displacing the phosphatase SHP2. 30107178 2018
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.710 CausalMutation CLINVAR