Analysis of p53 gene polymorphisms in Romanian patients with squamous cell oesophageal carcinoma

The mutations of the p53 tumor suppressor gene are a major step in carcinogenesis and the most common genetic defects known to occur in diverse human carcinomas. The frequency of p53 gene mutations in human esophageal carcinoma is variable (ranging from 38% to 69%). In this study we evaluated the alterations of the p53 gene by DNA sequencing analysis and immunofluorescence. Exons 5 to 8 of the p53 gene were amplified by PCR using specific primers and were analyzed by direct sequencing. We have revealed multiple nucleotide polymorphisms both in the tumoral tissue and in the blood samples. By matching genetic data with the clinical data, the development of changes in p53 gene could be correlated with the early stages (I-IIa) of squamous cell oesophageal carcinoma. The more advanced stages of cancer could be correlated with shifts in the polarity of the corresponding protein which could lead to conformational changes and alterations of its response capacity.