Study of p53 gene codon 72 and codon 47 polymorphism and ATM gene in bladder cancer patients

Abstract

Tumor suppressor genes are essential for the recognition and repair of genetic damages. They prevent the occurence of mutations that may lead to a clone of malignant cells. When cell cycle can not be stopped, p53 induces apoptosis. However, polymorphisms at codon 72 and codon 47 of the gene impair p53 apoptotic ability. 72p53 polymorphism is associated with a series of human tumors but its role in bladder cancer is still controversial. Also, the role of the recently described polymorphism 47p53 in bladder tumorigenesis is totally unknown. ATM gene is a tumor suppressor gene too, with a main role in DNA signaling, cell cycle control and apoptosis induction. It may also be involved in mitogenic transduction, cromossomic condensation and telomer maintainence. ATM mutations produce great cromosomal instability, impair p53 expression and are associated with a series of human tumors. Two polymorphisms of ATM gene, D126E e D1853N, have a correlation to different cancers but have still not been studied in bladder tumors. The aim of the present study is to investigate the prevalence of 72p53, D126E and D1853N ATM polymorphisms in 100 bladder cancer patients compared to a comtrol paired population of 100 individuals in order to evaluate if these polymorphsism are related to bladder cancer incidence and prognosis. These polymorphisms will be correlated to other already well established factors of risk for bladder cancer, like ethnics, sex and tobacco use.