A nonsense mutation (Arg-196-Term) in exon 6 of the human TP53 gene identified in small cell lung carcinoma.
In a search for mutations of the TP53 tumour suppressor gene in lung cancer samples from gold miners in the Witwatersrand, South Africa, using heteroduplex and single strand conformation polymorphism (SSCP) analysis, a nonsense mutation was found in exon 6, consisting of a C to T transition and resulting in chain termination of the TP53 gene. The mutation occurred in a small cell lung cancer sample and is the first reported codon 196 TP53 mutation in both radon-associated and small cell lung cancer (SCLC) material.
Hayes
V M
VM
Department of Human Genetics, University of Stellenbosch, Faculty of Medicine, Tygerberg, South Africa.
Oosthuizen
C J
CJ
Kotze
M J
MJ
Marx
M P
MP
Buys
C H
CH
D000368:Aged; D018288:Carcinoma, Small Cell / Q000235:genetics*; D004247:DNA; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics*; D016158:Genes, p53 / Q000235:genetics*; D006046:Gold; D006801:Humans; D008168:Lung; D008175:Lung Neoplasms / Q000235:genetics*; D008906:Mining; D009692:Nucleic Acid Heteroduplexes; D017354:Point Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods; D018807:Polymorphism, Single-Stranded Conformational; D013019:South Africa
D009692:Nucleic Acid Heteroduplexes; D006046:Gold; D004247:DNA