rs28934571, TP53

N. diseases: 31
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hepatitis B
CUI: C0019163
Disease: Hepatitis B
0.100 GeneticVariation BEFREE p53-R249S (p53-RS) is frequently detected in human hepatocellular carcinoma (HCC) that is highly associated with hepatitis B infection and aflatoxin B1 exposure. 31747859 2020
Hepatitis B
CUI: C0019163
Disease: Hepatitis B
0.100 GeneticVariation BEFREE Yet, less is known about another hotspot p53 mutant, R249S (p53-R249S). p53-R249S is the sole hotspot mutation in hepatocellular carcinoma (HCC) that is highly associated with chronic hepatitis B virus (HBV) infection and dietary exposure to aflatoxin B1 (AFB1). 30608603 2019
Hepatitis B
CUI: C0019163
Disease: Hepatitis B
0.100 GeneticVariation BEFREE Here we report a unique mechanism underlying the GOF of p53-R249S (p53-RS), a p53 mutant frequently detected in human hepatocellular carcinoma (HCC) that is highly related to hepatitis B infection and aflatoxin B1. 29225033 2017
Hepatitis B
CUI: C0019163
Disease: Hepatitis B
0.100 GeneticVariation BEFREE Hepatitis B virus genetic variation and TP53 R249S mutation in patients with hepatocellular carcinoma in Thailand. 23886144 2013
Hepatitis B
CUI: C0019163
Disease: Hepatitis B
0.100 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
Hepatitis B
CUI: C0019163
Disease: Hepatitis B
0.100 GeneticVariation BEFREE In regions with high prevalence of chronic hepatitis B virus (HBV) infection and dietary aflatoxin B(1) (AFB(1)) exposure, hepatocellular carcinomas (HCCs) often contain TP53 mutation at codon 249 (R249S). 22759751 2012
Hepatitis B
CUI: C0019163
Disease: Hepatitis B
0.100 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
Hepatitis B
CUI: C0019163
Disease: Hepatitis B
0.100 GeneticVariation BEFREE Seasonal variation in TP53 R249S-mutated serum DNA with aflatoxin exposure and hepatitis B virus infection. 21768053 2011
Hepatitis B
CUI: C0019163
Disease: Hepatitis B
0.100 GeneticVariation BEFREE In contrast, in a cell line that constitutively expresses both p.R249S and the hepatitis B virus antigen HBx (PLC/PRF/5), silencing of either p.R249S or HBx by RNA interference slowed down proliferation, with no additive effects when both factors were silenced. 20538734 2010
Hepatitis B
CUI: C0019163
Disease: Hepatitis B
0.100 GeneticVariation BEFREE It includes integration of hepatitis B virus (HBV) DNA, R249S TP53 (tumor protein p53) mutation in aflatoxin B1-exposed patients, KRAS mutations related to vinyl chloride exposure, hepatocyte nuclear factor 1alpha (HNF1alpha) mutations associated to hepatocellular adenomas and adenomatosis polyposis coli (APC) germline mutations predisposing to hepatoblastomas. 16799619 2006
Hepatitis B
CUI: C0019163
Disease: Hepatitis B
0.100 GeneticVariation BEFREE A mutation in the tumor suppressor p53 gene resulting in an Arg-->Ser substitution in position 249 is found frequently in human hepatocellular carcinomas associated with hepatitis B infection and with aflatoxin exposure. 7605578 1995