Glutathione S-transferase M1 and T1, CYP1A2-2467T/delT polymorphisms and non small-cell lung cancer risk in Tunisian sample

The present study investigated the impact of metabolic gene polymorphisms in modulating lung cancer risk susceptibility. Gene polymorphisms encoding Cytochrome 1A2 (CYP1A2) and Glutathione-S-transferases (GSTT1 and GSTM1) are involved in the bioactivation and detoxification of tobacco carcinogens and may therefore affect lung cancer risk. In order to assess association between lung cancer and GSTT1, GSTM1 and CYP1A2-2467T/delT, variant allele (CYP1A2*1D) polymorphisms, a case–control study of healthy and smoking lung cancer patients in Tunisian population was conducted. Polymorphisms of GSTs were assayed by multiplex PCR. Genotype polymorphism of CYP1A2*1D was determined by PCR-RFLP assay. Odds Ratio was used for analysing results. There was no association with any increase of lung cancer risk in GSTT1 null genotype [OR: 0.83 (0.47–1.45)] as well as in GSTM1 null genotype [OR: 0.78 (0.37–1.62)]. However, a significant association between lung cancer and the homozygous mutate variant of the CYP1A2 [(OR =4.7 (1.55–29.78)] was observed.Keywords: GSTT1; GSTTM1; CYP1A2; Polymorphisms; Lung cance

Thiopurine S-methyltransferase genetic polymorphism in the Tunisian population

Background: Determine the incidence of four thiopurine S-methyltransferase (TPMT) mutant alleles, TPMT*2, *3A, *3B and *3C in the Tunisian population involved in adverse drug reactions. Genomic DNAs were isolated from peripheral blood leucocytes of 119 healthy Tunisian volunteers. The frequencies of four allelic variants of the TPMT gene, TPMT*2, *3A, *3B, *3C were determined using allele specific polymerase chain reaction (PCR) or PCR-restriction fragment length polymorphism technique.Results: Of the 119 Tunisian subjects participating in this study, 117 subjects (98.3%) were homozygous for TPMT*1 and only two subjects (1.68%) were heterozygous for TPMT*1/*3A. The frequency of TPMT*3A mutant allele was 0.009.Conclusions: Our study provides the first data on the frequency of common TPMT variants in the Tunisian population. TPMT*3A, which causes the largest decrease in enzyme activity, seemed to be a unique variant allele found in this our population.Keywords: Thiopurine S-methyltransferase (TPMT); Pharmacogenetics; Tunisians; PC

Chromophobe renal cell carcinoma in an 18-year-old female

Renal cell carcinoma (RCC) in young adults is uncommon. Whether they have different clinicopathologic characteristics and outcomes from those in older patients is still a conflicting matter. In this article we present an uncommon subtype of RCC which is chromophobe RCC (chRCC) in a female aged less than 20 years

Interaction between CYP1A2-T2467DELT polymorphism and smoking in adenocarcinoma and squamous cell carcinoma of the lung

Abstract This study aimed to identify new genetic characteristics contributing to individual susceptibility to smoke-induced lung cancer. Despite functional evidence of a possible role of cytochrome P450 1A2 (CYP1A2) in lung cancer susceptibility, no studies have evaluated the influence of CYP1A2 genotypes on lung cancer risk. We investigated the interaction between CYP1A2-T2467delT (allele*1D) polymorphism and smoking in Tunisian lung cancer cases (n=101 male smokers) separately for the histological types squamous cell carcinoma (SCC) (n=60) and adenocarcinoma (n=41), and in controls (n=98 male smokers) using a case-only study design. A significant interaction between CYP1A2-T/delT or delT/delT genotypes and tobacco consumption (pack-years) adjusted for age was evident (OR (95% CI) 7.78 (1.52-42.8)) in the SCC cases who smoked relatively less (< or =33 pack-years, I quartile value), but not in adenocarcinoma and controls. Our results suggest that CYP1A2-T2467delT polymorphism has an important role in lung carcinogenesis, especially SCC, among smokers