Molecular genetics of renal cell carcinoma: polybromo 1 and set domain containing 2 genes
Abstract
Purpose: Renal cell carcinoma (RCC) is genetically characterized by the recurrent loss of the short arm of chromosome 3. Classically, Von Hippel Lindau (VHL) was the only frequently mutated gene in RCC. Recently, several novel frequent mutations of histone modifying and chromatin remodeling genes, including PBRM1 and SETD2, were identified. In the present study, we aimed to determine the possible relationship between PBRM1 and SETD2 genes, and renal cell carcinoma by molecular techniques.
Material and Methods: Screening possible mutation and determining mRNA expression level of PBRM1 and SETD2 genes in 20 pairs of tumor and normal samples of RCC patients were performed by nucleotide sequencer and reverse transcription- polymerase chain reaction (RT- PCR).
Results: The mRNA expression levels of both genes were significantly reduced in tumor samples when compared with the control samples. As a result of mutational analysis, a single insertion nucleotide polymorphism in exon 12 of SETD2 gene was detected in one patient. Conclusion: Reduced mRNA expression level of PBRM1 and SETD2 might be risk factor for RCC development. Further analysis is warranted to investigate responsible genes rather than PBRM1 and SETD2 in RCC.
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