p53 and p16/CDKN2 gene mutations in esophageal tumors from a high- incidence area in South Africa
Date
1998
Authors
Gamieldien W.
Victor T.C.
Mugwanya D.
Stepien A.
Gelderblom W.C.A.
Marasas W.F.O.
Geiger D.H.
Van Helden P.D.
Journal Title
Journal ISSN
Volume Title
Publisher
Abstract
Squamous cell carcinoma of the esophagus has an uneven geographic distribution, with a high incidence in the Transkei region of Eastern Cape Province, South Africa. The precise molecular events associated with tumorigenesis of esophageal cancer in this region have not been characterized. DNA from human esophageal squamous cell carcinomas (n = 76), as well as adjacent tissue samples (n = 9) and blood (n = 50) from the same patients from the Transkei region were screened for somatic mutations. Exons 5-8 of the p53 gene and exons 1-2 of the p16/CDKN2 gene were examined for mutations using PCR-SSCP procedures and DNA sequence analysis. Results show that 17% of the tumors contained small deletions, insertions and point mutations, resulting in frame-shifts or amino acid changes in the p53 gene. Among the mutations in the structural p16/CDKN2 gene, 9 were point mutations, 4 were deletions and 3 were insertions. A novel C to T mutation, 25 bp upstream from the ATG start site of p16/CDKN2, which sometimes occurs together with other structural gene variations, was found. The mutations described here are somatic in origin since none of the DNA samples from the adjacent control tissues or blood samples from the same patients had them.
Description
Keywords
protein p53, adult, aged, article, dna sequence, esophagus cancer, esophagus carcinoma, esophagus tumor, female, gene deletion, gene mutation, human, human tissue, male, priority journal, south africa, Adult, Aged, Aged, 80 and over, Carcinoma, Squamous Cell, Esophageal Neoplasms, Female, Gene Deletion, Genes, p16, Genes, p53, Humans, Male, Middle Aged, Mutation
Citation
International Journal of Cancer
78
5
78
5