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P53 gene snp investigation in squamous cell oesophageal carcinom

Author(s): Catalina Luca | Laura Buburuzan | Dragos Romanescu | Codrut Stanescu | Simona Dima | Irinel Popescu | Vladimir Botnarius | Marieta Costache

Journal: Analele Ştiinţifice Ale Universităţii Alexandru Ioan Cuza din Iași,Sectiunea II A : Genetica si Biologie Moleculara
ISSN 1582-3571

Volume: 11;
Issue: 2-3;
Date: 2010;
Original page

Squamous cell cancer (ESCC) and adenocarcinoma (EADC) are the two main subtypes of oesophageal cancer. Genetic alterations associated with the development of oesophageal cancer are often observed. The aim of this study was to identify p53 gene polymorphisms in several patients with oesophageal squamous cell carcinoma. Genomic DNA was isolated from normal-, tumor- and blood-samples from patients with ESCC. PCR amplification of two p53 gene fragments was performed using two sets of primers DNA samples were sequenced and then analyzed with BLAST program Exons 5, 7 and 8 did not present mutations for the studied patients, but exon 6 featured one modification in two different patients. The mutations of p53 gene can determine the modification of its proteine function and the loss of its antioncogene role, which reflects the abnormal proliferation of the cells implicated in this type of cancer.
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