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Inherited variability in a master regulator polymorphism (rs4846126) associates with survival in 5-FU treated colorectal cancer patients
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SYSNO ASEP 0431922 Document Type J - Journal Article R&D Document Type Journal Article Subsidiary J Článek ve WOS Title Inherited variability in a master regulator polymorphism (rs4846126) associates with survival in 5-FU treated colorectal cancer patients Author(s) Pardini, Barbara (UEM-P)
Bermejo, J. L. (DE)
Naccarati, Alessio (UEM-P)
Di Gaetano, C. (IT)
Rosa, F. (IT)
Legrand, C. (DE)
Novotný, J. (CZ)
Vodička, Pavel (UEM-P) RID
Kumar, R. (DE)Number of authors 9 Source Title Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis. - : Elsevier - ISSN 0027-5107
766-767, AUG-SEP (2014), s. 7-13Number of pages 7 s. Language eng - English Country NL - Netherlands Keywords colorectal cancer ; genome-wide association studies (GWAS) ; EQTL studies Subject RIV EB - Genetics ; Molecular Biology R&D Projects GAP304/10/1286 GA ČR - Czech Science Foundation (CSF) GAP304/12/1585 GA ČR - Czech Science Foundation (CSF) Institutional support UEM-P - RVO:68378041 UT WOS 000340321200002 EID SCOPUS 84902504926 DOI 10.1016/j.mrfmmm.2014.05.007 Annotation Treatment with 5-fluorouracil (5-FU) improves survival in many cancers including colorectal cancer. Response to the treatment, overall survival and recurrence show inter-individual variation. In this study we employed a strategy to search eQTL variants influencing the expression of alarge number of genes. We identified four single nucleotide polymorphisms, defined as master regulators of transcription, and genotyped them in a set of 218 colorectal cancer patients undergoing adjuvant 5-FU based therapy. The minor allele variant of the rs4846126 polymorphism was associated with poor overall and progression-free survival. Patients that were homozygous for the variant allele showed two fold increased risk of death (HR 2.20 95%CI 1.05–4.60) and progression (HR 2.88, 95%1.47–5.63). The integration of external information from publicly available gene expression repositories suggested that the rs4846126 polymorphism deserves further investigation. This variant potentially regulates the gene expression of 273 genes with some of them possibly associated to the patient’s responseto 5-FU treatment or colorectal cancer. Present results show that mining of public data repositories in combination with own data can be a fruitful approach to identify markers that affect therapy outcome. In particular, a genetic screen of master regulators may help to search for the polymorphisms involved in treatment responsein cancer patients. Workplace Institute of Experimental Medicine Contact Lenka Koželská, lenka.kozelska@iem.cas.cz, Tel.: 241 062 218, 296 442 218 Year of Publishing 2015
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