Abstract

Sequence alterations in the p53 gene have been detected in human tumors of the brain, breast, lung, and colon, and it has been proposed that p53 mutations spanning a major portion of the coding region inactivate the tumor suppressor function of this gene. To our knowledge, neither transforming mutations in oncogenes nor mutations in tumor suppressor genes have been reported in human esophageal tumors. We examined four human esophageal carcinoma cell lines and 14 human esophageal squamous cell carcinomas by polymerase chain reaction amplification and direct sequencing for the presence of p53 mutations in exons 5, 6, 7, 8, and 9. Two cell lines and five of the tumor specimens contained a mutated allele (one frameshift and six missense mutations). All missense mutations detected occurred at G.C base pairs in codons at or adjacent to mutations previously reported in other cancers. The identification of aberrant p53 gene alleles in one-third of the tumors we tested suggests that mutations at this locus are common genetic events in the pathogenesis of squamous cell carcinomas of the esophagus.

Keywords

Frameshift mutationMissense mutationBiologyGeneExonTumor suppressor geneCancer researchCoding regionMutationAlleleGeneticsCarcinogenesisEpidermoid carcinomaMolecular biologyCarcinoma

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Year
1990
Type
article
Volume
87
Issue
24
Pages
9958-9961
Citations
388
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Monica Hollstein, Robert A. Metcalf, Judith A. Welsh et al. (1990). Frequent mutation of the p53 gene in human esophageal cancer.. Proceedings of the National Academy of Sciences , 87 (24) , 9958-9961. https://doi.org/10.1073/pnas.87.24.9958

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DOI
10.1073/pnas.87.24.9958