Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/86070
Type: Artigo de periódico
Title: Effect Of Mlh1 −93g>a On Gene Expression In Patients With Colorectal Cancer
Author: Funck A.
Santos J.C.
Silva-Fernandes I.J.L.
Rabenhorst S.H.B.
Martinez C.A.R.
Ribeiro M.L.
Abstract: The DNA repair machinery plays a key role in maintaining genomic stability by preventing the emergence of mutations. Furthermore, the −93G>A polymorphism in the MLH1 gene has been associated with an increased risk of developing colorectal cancer. Therefore, the aim of this study was to examine the expression pattern and effect of this polymorphism in normal and tumour samples from patients with colorectal cancer. The MLH1 −93G>A (rs1800734) polymorphism was detected by PCR–RFLP in 49 cases of colorectal cancer. MLH1 expression was investigated using real-time quantitative PCR. The results indicate a significant decrease in MLH1 expression in tumour samples compared to their normal counterparts. The MLH1 gene was also significantly repressed in samples from patients who had some degree of tumour invasion into other organs. Similarly, those patients who were in a more advanced tumour stage (TNM III and IV) exhibited a significant reduction in MLH1 gene expression. Finally, the mutant genotype AA of MLH1 was associated with a significant decrease in the expression of this gene. This finding suggests that this polymorphism could increase the risk of developing colorectal cancer by a defective mismatch repair system, particularly through the loss of MLH1 expression in an allele-specific manner.
Editor: Humana Press Inc.
Rights: fechado
Identifier DOI: 10.1007/s12032-014-0160-z
Address: http://www.scopus.com/inward/record.url?eid=2-s2.0-84919902654&partnerID=40&md5=2a95fc609e3d9a8423f1168028b03c65
Date Issue: 2014
Appears in Collections:Unicamp - Artigos e Outros Documentos

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