1. LKB1 mutations and their correlation with LKB1 and Rheb expression in bladder cancer
- Author
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Murat Tunc, Oner Sanli, Turgut Ulutin, Serife Basaran, Nur Buyru, Hatice Tigli, and Didem Seven
- Subjects
congenital, hereditary, and neonatal diseases and abnormalities ,Cancer Research ,Genotype ,Protein Serine-Threonine Kinases ,medicine.disease_cause ,Exon ,AMP-Activated Protein Kinase Kinases ,medicine ,Humans ,Missense mutation ,RNA, Messenger ,Codon ,skin and connective tissue diseases ,Molecular Biology ,Gene ,PI3K/AKT/mTOR pathway ,Monomeric GTP-Binding Proteins ,Mutation ,Bladder cancer ,Base Sequence ,biology ,Neuropeptides ,Exons ,medicine.disease ,Introns ,Stop codon ,Gene Expression Regulation, Neoplastic ,Urinary Bladder Neoplasms ,Disease Progression ,biology.protein ,Cancer research ,Ras Homolog Enriched in Brain Protein ,RHEB - Abstract
Although there are extensive studies on the genetics of bladder cancer, several questions remain unanswered. One of the pathways which are altered in bladder cancer is the mTOR signaling pathway. In the present study, we analyzed the expression of Rheb gene and genetic alterations in the LKB1 gene which are the key components of mTOR pathway. Nine exons of the LKB1 gene were analyzed by direct sequencing in 51 bladder cancer patients. To investigate the expression of Rheb and LKB1, real-time quantitative RT-PCR was performed in bladder tumor and normal bladder tissue samples. We did not observed a statistically significant difference in Rheb or LKB1 expression between the tumor and normal tissue samples. We detected a novel missense mutation creating stop codon in a high percent of the tumor samples. Five different single nucleotide substitutions were also observed in the introns. Our results indicate that LKB1 gene may play a role in the progression of bladder cancer. © 2012 Wiley Periodicals, Inc.
- Published
- 2012
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