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

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 Cancer

authors

Gamieldien W,Victor TC,Mugwanya D,Stepien A,Gelderblom WC,Marasas WF,Geiger DH,van Helden PD

doi

10.1002/(sici)1097-0215(19981123)78:5<544::aid-ijc

subject

Has Abstract

pub_date

1998-11-23 00:00:00

pages

544-9

issue

5

eissn

0020-7136

issn

1097-0215

pii

10.1002/(SICI)1097-0215(19981123)78:5<544::AID-IJC

journal_volume

78

pub_type

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