Polymorphisms in TDG and MGMT Genes - Epidemiological and Functional Study in Lung Cancer Patients from Poland
作者： M. Krzesniak , D. Butkiewicz , A. Samojedny , M. Chorzy , M. Rusin
DOI: 10.1046/J.1529-8817.2004.00079.X
关键词:
摘要: Summary Functional genetic polymorphisms of DNA repair genes are good candidates for cancer susceptibility markers. We studied two coding proteins removing small adducts by direct (MGMT), or mispaired bases base excision (TDG). The non-silent MGMT (84:Phe, 143:Val, 178:Arg) and TDG (199:Ser, 367:Met), the functional enhancer polymorphism, did not show any statistically significant association with lung risk in our case-control analysis, but due to relatively number individuals, strong conclusions on lack thereof cannot be made. Sequencing cDNA has revealed novel find an alternatively spliced mRNA missing exon 2. Our search within promoter-enhancer region three sequence variants. significance previously published polymorphism (1099C->T) was assessed. less frequent variant associated a modest (16–64%), significant, increase activity cell lines. This work points importance studying expression-regulating elements genes, as they may contain potential modulating various diseases, including cancer.
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