Journal of Applied Genetics 48(2), 2007, pp. 177-183
P53 mutations in urinary bladder cancer patients from Central Poland
Edyta Borkowska, Aleksandra Binka-Kowalska, Maria Constantinou, Agnieszka Nawrocka, Jozef Matych, Bogdan Kaluzewski
Abstract: The present study aimed at detection of P53 gene mutations in cells of urinary bladder neoplasms, as the mutations may be regarded as an independent prognostic factor for progression and recurrence of tumours. In the study, 82 patients with clinically diagnosed urinary bladder tumour were included. The control was composed of DNA samples from urine and blood of 202 healthy patients. Exons 5-8 of the P53 gene were screened for mutations by using multitemperature single-strand conformational polymorphism (MSSCP) analysis. Samples with abnormal MSSCP patterns were subjected to direct sequencing. The frequency of mutations in exons 5-8 of the P53 gene in patients with bladder cancer was lower (3.3% in grade G1, 24% in G2, and 39% in G3) than the data reported in the literature. We found a higher percentage of polymorphism at codon 213 of the P53 gene in bladder cancer patients (6%), compared with the values in the reference group (2.5%). These results were matched with those of the loss of heterozygosity (LOH) analysis. In conclusion, mutations were found mainly in more advanced histopathological and clinical stages of the disease and at the CIS stage (carcinoma in situ). It cannot be excluded that the observed polymorphism at codon 213 may be a predisposing factor for urinary bladder carcinoma development.
Key words: bladder cancer, LOH, MSSCP, P53 mutations, polymorphism.
Correspondence: E. Borkowska, Department of Medical Genetics, Medical University of Lodz, Sterlinga 3, 91-425 Lodz; e-mail: email@example.com
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