rs28934571, TP53

N. diseases: 31
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.050 GeneticVariation BEFREE In addition, an arginine to serine mutation at codon 249 of the p53 tumor suppressor gene is produced, abrogating the function of the tumor suppressor gene, and contributing to hepatocarcinogenesis. 24078988 2013
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.050 GeneticVariation BEFREE Hepatocellular carcinoma (HCC) is associated with hepatitis B virus (HBV) chronicity and dietary exposure to aflatoxin, a mutagen targeting codon 249 of tumor suppressor TP53 (R249S mutation). 23200676 2013
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.050 GeneticVariation BEFREE Most HCC are associated with chronic infection by Hepatitis B Virus while a G → T mutation at codon 249 of the TP53 gene, R249S, specific for exposure to aflatoxin, is detected in tumors for up to 30% of cases. 22675488 2012
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.050 GeneticVariation BEFREE Interestingly, 9 out of 14 (64.3%) tumors carrying p53 mutations displayed substitution of serine by arginine at codon 249, a characteristic change believed to be induced by aflatoxin-B1. 18358501 2008
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.050 GeneticVariation BEFREE Our data revealed a relationship between chromosome 16q homozygous deletions and R249S</span> p53 mutations in tumors where the patient had been exposed to aflatoxin B1 (P=0.002). 11526514 2001