IL 57 - Sporadic colorectal cancer: From genetic make-up to complex phenotypic measurement, from risk determination to prognostic markers

0475638 - ÚEM 2017 RIV CZ eng C - Conference Paper (international conference)
Vodička, Pavel - Slyšková, Jana - Pardini, B. - Naccarati, A. - Souček, P. - Vodičková, Ludmila - Vymetálková, Veronika - Svoboda, Miroslav - Foersti, A. - Hemminki, K.
IL 57 - Sporadic colorectal cancer: From genetic make-up to complex phenotypic measurement, from risk determination to prognostic markers.
44th Annual Meeting EEMGS 2015. Final Programme and Abstract Book. 2015, s. 96-96.
[Annual Meeting European Environmental Mutagenesis and Genomics Society /44./. Prague (CZ), 23.08.2015-26.08.2015]
R&D Projects: GA MZd(CZ) NT14329; GA MZd(CZ) NT14056; GA MŠMT(CZ) LH13061; GA ČR(CZ) GAP304/12/1585; GA MZd(CZ) NT13424
Institutional support: RVO:68378041
Keywords : colorectal cancer * cancer risk determination * prognostic markers
Subject RIV: EB - Genetics ; Molecular Biology

Colorectal carcinogenesis (CRC), is a complex process, resulting in both genomic and chromosomal instabilities. The valid theories of carcinogenesis accent either the role of somatic mutation or the surrounding microenvironment, however neither of them explains all features of cancer. Uncontrolled proliferation and genomic instability point to the DNA damage response and repair as to the key players. In the present study, we will overview several biomarkers in mapping heterogeneous complex CRC disease and providing prognostic information.
Variants in genes involved in important pathways, such as DNA repair, cell cycle control, folate metabolism and methylation, insulin resistance and obesity, ABC transporters, selenoprotein genes, genes involved in inflammatory/immune response have shown various degree of association with CRC risk. We present also the data on mutations in high risk genes involved in colorectal carcinogenesis. Gene expression levels were determined in relevant pathways and complemented with other important parameters (epigenetic regulators of transcription by methylation). Additionally, the role of post-transcriptional regulation via miRNA or lncRNA was investigated in relation to the risk of CRC and the efficacy of chemotherapy. We have discovered several genetic and epigenetic markers affecting independently the prognosis of CRC. Functional DNA repair tests (complex phenotype) have been implemented as markers of individual susceptibility to sporadic CRC and its prognosis.
An application of the whole set of various biomarkers is inevitable to define the phenotypic landscape of the disease and to delineate the individual response to the therapy.

Permanent Link: http://hdl.handle.net/11104/0272305