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 frameshifts 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.
journal_name
Int J Cancerjournal_title
International journal of cancerauthors
Gamieldien W,Victor TC,Mugwanya D,Stepien A,Gelderblom WC,Marasas WF,Geiger DH,van Helden PDdoi
10.1002/(sici)1097-0215(19981123)78:5<544::aid-ijcsubject
Has Abstractpub_date
1998-11-23 00:00:00pages
544-9issue
5eissn
0020-7136issn
1097-0215pii
10.1002/(SICI)1097-0215(19981123)78:5<544::AID-IJCjournal_volume
78pub_type
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