p53 and p16/CDKN2 gene mutations in esophageal tumors from a high- incidence area in South Africa

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dc.contributor.authorGamieldien W.
dc.contributor.authorVictor T.C.
dc.contributor.authorMugwanya D.
dc.contributor.authorStepien A.
dc.contributor.authorGelderblom W.C.A.
dc.contributor.authorMarasas W.F.O.
dc.contributor.authorGeiger D.H.
dc.contributor.authorVan Helden P.D.
dc.date.accessioned2011-05-15T16:16:39Z
dc.date.available2011-05-15T16:16:39Z
dc.date.issued1998
dc.description.abstractSquamous 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.
dc.description.versionArticle
dc.identifier.citationInternational Journal of Cancer
dc.identifier.citation78
dc.identifier.citation5
dc.identifier.issn00207136
dc.identifier.other10.1002/(SICI)1097-0215(19981123)78:5<544::AID-IJC3>3.0.CO;2-T
dc.identifier.urihttp://hdl.handle.net/10019.1/13877
dc.subjectprotein p53
dc.subjectadult
dc.subjectaged
dc.subjectarticle
dc.subjectdna sequence
dc.subjectesophagus cancer
dc.subjectesophagus carcinoma
dc.subjectesophagus tumor
dc.subjectfemale
dc.subjectgene deletion
dc.subjectgene mutation
dc.subjecthuman
dc.subjecthuman tissue
dc.subjectmale
dc.subjectpriority journal
dc.subjectsouth africa
dc.subjectAdult
dc.subjectAged
dc.subjectAged, 80 and over
dc.subjectCarcinoma, Squamous Cell
dc.subjectEsophageal Neoplasms
dc.subjectFemale
dc.subjectGene Deletion
dc.subjectGenes, p16
dc.subjectGenes, p53
dc.subjectHumans
dc.subjectMale
dc.subjectMiddle Aged
dc.subjectMutation
dc.titlep53 and p16/CDKN2 gene mutations in esophageal tumors from a high- incidence area in South Africa
dc.typeArticle
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