BACKGOUND Renal epithelioid angiomyolipoma (EAML) is a rare variant of AML (angiomyolipoma) and is often associated with aggressive behaviors. The pathogenesis of EAML has been poorly understood. We analyzed the expression of p53 and Ki-67 by immunohistochemistry (IHC) and investigated p53 mutation analysis in 11 cases of EAML in comparison to classical AML. METHODS P53 and Ki-67 expression s...

This is the first investigation performed to detect the presence of the p53 mutation in Malay patients with gliomas. The p53 gene was amplified using polymerase chain reaction (PCR) from 33 fresh-frozen tumour tissues from patients histologically confirmed as glioma. Four hot spot areas that lie between exon 5 to 8 were screened for mutation by mean of non-isotopic "cold" single strand conforma...

Suppression of p53 activity is essential for proliferation and survival of tumor cells. A direct p53-activating compound, nutlin-3, was used in this study, together with p53mutation analysis, to characterize p53 pathway defects in a set of 34 human neuroblastoma cell lines. We identified 9 cell lines (26%) with a p53 loss-offunction mutation, including 6 missense mutations, 1 nonsense mutation,...

Inactivation of the tumor suppressor p53 by missense mutations is the most frequent genetic alteration in human cancers. The common missense mutations in the TP53 gene disrupt the ability of p53 to bind to DNA and consequently to transactivate downstream genes. However, it is still not fully understood how a large number of the remaining mutations affect p53 structure and function. Here, we use...

BACKGROUND A selective mutation, an arginine-to-serine substitution in codon 249, of the p53 gene has been identified as a "hotspot" mutation in hepatocellular carcinoma (HCC). This mutation occurs in populations that are exposed to aflatoxins and have a high prevalence of hepatitis B virus carriers. We evaluated whether this mutation could be detected in cell-free DNA isolated from the plasma ...

Abstract. The p53 gene— “the guardian of the genome”—is responsible for maintaining integrity genome, along with cell cycle regulation, apoptosis, and differentiation. New analytical devices are needed to recognize main alterations this gene could suffer, since it is one most frequent in human cancer. For reason, we developed an electrochemical DNA biosensor high sensitivity specificity monitor...

BACKGROUND The tumor suppressor gene p53 is involved in the control of cell proliferation, particularly in stressed cells. p 53 gene mutations are the most frequent genetic event found in human cancers. Fanconi Anemia (FA) is the most common representative of inherited bone marrow failure syndromes (IBMFS) with a leukemic propensity. P 53 DNA alteration has not been studied before in Egyptian c...

We showed previously that p53 mutations play a role in cigarette smoke-related carcinogenesis not only in humans but also in A/J mice. In fact, (UL53-3 x A/J)F(1) mice, carrying a dominant-negative germ-line p53 mutation, responded to exposure to environmental cigarette smoke more efficiently than their wild-type (wt) littermate controls in terms of molecular alterations, cytogenetic damage, an...

Many studies have been focused on cytogenetic and molecular genetic defects in brain tumors; therefore the role of ATM as a tumor suppressor gene in these tumors is poorly considered. In this study mutation analysis of exon 19 and 39 of ATM gene and P53 accumulation were investigated by PCR-SSCP, sequencing, and flow cytometry . Four polymorphisms including D1853N, IVS 38-8 T?C, F858L, P872T we...

The incidence of hepatocellular carcinomas (HCC) varies widely worldwide, with some of the highest incidence rates found in China. Chronic infection with the hepatitis B virus (HBV) and exposure to aflatoxins in foodstuffs are the main risk factors. A G to T transversion at codon 249 of the p53 gene (249(ser)) is commonly found in HCCs from patients in regions with dietary aflatoxin exposure. B...