Mutation at codon 249 of p53 gene in a human hepatoblastoma.
G-to-T transversion at codon 249 of the p53 gene has been shown to be specifically associated with human hepatocellular carcinomas, particularly that subset associated with exposure to the chemical hepatocarcinogen aflatoxin B1. We surveyed 47 North American adult hepatocellular carcinomas and three childhood liver tumors for codon 249 mutation. We report here a case of childhood hepatoblastoma in a patient, without known exposure to aflatoxin B1 or hepatitis B or C virus, whose tumor had a mutation at codon 249 involving G-to-T transversion.
Pittsburgh Transplant Institute, Pennsylvania.
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D000293:Adolescent; D000328:Adult; D006528:Carcinoma, Hepatocellular / Q000235:genetics* / Q000473:pathology; D002648:Child; D003062:Codon / Q000235:genetics*; D004279:DNA, Viral / Q000032:analysis; D016158:Genes, p53; D006147:Guanine; D006801:Humans; D007223:Infant; D008113:Liver Neoplasms / Q000235:genetics* / Q000473:pathology; D008875:Middle Aged; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D015183:Restriction Mapping; D013941:Thymine
D003062:Codon; D004279:DNA, Viral; D006147:Guanine; D013941:Thymine