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Updated: Aug 8, 2026

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
A nonsense mutation (Arg-196-Term) in exon 6 of the human TP53 gene identified in small cell lung carcinoma
V M Hayes1, C J Oosthuizen, M J Kotze
1Department of Human Genetics, University of Stellenbosch, Faculty of Medicine, Tygerberg, South Africa.
Abstract:
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.
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